The Pigment Parade (updated 2018)

by Lorraine Shelton, TICA Provisional Allbreed Judge and Genetics Instructor

Of all the genetics questions I get asked, no other genetic phenomenon seems to inspire curiosity quite like our cats that have white on them. Some are totally white, some have patches of white, some have cute little white mittens and boots, and some have no more than a few little hairs of white on their chests or tummies (lockets). Strangely enough, although all of these cats may be very different genetically, they exhibit the results of the same physiological phenomenon.

To understand this, we have to not only know some basics of genetics, but some concepts of embryology as well. Most of us are familiar with the terms "dominant" and "recessive". The common white spotting gene, responsible for our bicolor, van, and harlequin (a term used by some associations when the amount of white spotting is between that of a bicolor and a van) colored cats is dominant. If a cat has white spotting, you know that at least one parent had white on him. The same is true of the epistatic white gene. When we see a beautiful shimmering white Persian we know that at least one of his parents was white. The term "epistasis" refers to the fact that the cat's "whiteness" covers up whatever color he may be underneath. For all you know, that white Persian is genetically a shaded tortoiseshell, or a blue lynx point, or a dilute calico.

All of our genes are inherited in sets of two, one from each parent. Each gene may come in only one or in many varieties that are called "alleles". The KIT gene has multiple alleles, including W (epistatic white), caused by an ancient viral infection in a cat that lived many centuries ago. By convention, recessive alleles are given lower case letters and dominant alleles upper case letters. If one parent in a breeding is white, then a kitten could receive a white allele (W) from that parent. If the other parent is non-white, the kitten must receive a "non-white" allele (w) from the other parent. Since W is dominant over w, the kitten will be white. Such a kitten is called "heterozygous". "Hetero" means "different", and in this case the kitten would have the genotype Ww. Either a W or a w would be passed to each of that kitten's future offspring. If both of the parents were white, the kitten COULD (but not always) get a W allele from each parent. This creates what is referred to as a "homozygous" white cat. "Homo" means "same". This kitten would have the genotype WW and all future offspring from this kitten would be white, as every offspring would receive a W even if the other parent contributed a w. When a Ww cat is bred to a Ww cat, the odds are that 25% of the kittens will be WW, 50% will be Ww, and 25% will be ww (non-white). The WW cat will look just like a Ww cat; in this case, two cats with different genotypes (genetic make-up) will share an identical phenotype (appearance).

This is NOT the case with the white spotting gene, another variant of the KIT gene which gives the cat fancy its lovely bicolors, tricolors, and mitted cats. In this case, the dominant allele (Ws) is extremely variable in its expression. A cat with only one copy of the dominant allele (genotype Wsw) may only have a small amount of white or could have a large amount of white. Cats with two copies of the dominant allele (genotype WsWs) frequently have very large amounts of white and may be referred to as "vans". Carried to the extreme, a homozygous (WsWs) cat may even be completely white. This very rarely happens, however.

The extent to which the amount of white is expressed can be somewhat controlled by selective breeding. By breeding only the cats with a lot of white on them you can decrease your chances of getting cats with very little white. This is because for every major gene we know about, like KIT, there are many other genes ("polygenes") and other heritable factors ("epigenetics") that can influence what our cats look like. For instance, ear size, coat texture, and temperament are not controlled by identified major genes, but can be influenced by selective breeding and the accumulation of desired heritable factors. On a historic note, older articles on bicolor breeding in Persians warned against getting "too much white", as 1/3 white was considered optimal. With time, preferences changed and the majority of breeders now appear to believe that you can never have too much white!

The opposite direction is taken by Birman breeders. They have selectively bred their cats for many generations to influence the way that the KIT allele unique to their breed (wg) is expressed. Through careful selection of breeding stock, they can produce cats with white limited only to the four paws with a level of consistency that is quite amazing and indicative of being cause by an allele unique to this breed. The hybridization of Birmans with other breeds (both intentional and accidental) has demonstrated that the trait of white spotting is caused by a dominant mutation in this breed, although penetrance of the trait can be incomplete (not all cats with the wg allele will exhibit white spotting). However, this "gloving" allele has also been described as a recessive mutation, since the specific pattern of the show quality Birman requires the cats to be homozygous for this allele. The correct pattern can be lost very easily, reintroducing a whole spectrum of distribution of white, once a group of cats becomes heterozygous at this gene or if the allele is combined with the Ws allele. When Birmans were bred to a flame point Himalayan to introduce the red factor into some lines, the gloving was reinstated within a few generations by recreating cats homozygous for the gloving pattern mutation.

In Ragdoll cats, the presence of another mutation, possibly yet another KIT allele, has been hypothesized to explain the predictable heritability of the mitted and bicolor patterns in cats that cannot be explained by their genotypes for the currently identified KIT variants.

Another example in our spectrum of white is the case of "lockets" seen in some cats. These are genetically solid cats with no bicolored or white cats in their background that have a small patch of white hair somewhere on them. This does not appear to be influenced by any yet identified major genes, although a predisposition for lockets appears to "run in lines". Removing cats that throw locketed kittens from breeding programs can lower the incidence. Using bicolored or white cats in a breeding program will not cause lockets. However, keep in mind that if a cattery was having a problem with lockets in solid colored cats, shifting their focus to breeding white or bicolored cats would easily "cover up" the problem.

When these lockets occur, they are almost always seen on the underside of a cat. Spots at the groin or chest are the most common. Now picture the typical bicolored cat. These cats always have white chests and tummies. You never see a bicolor that is black on the bottom and white on top, do you? White kittens when they are born frequently have a patch of color on them. Where is it? On the topmost region of the cat: between its ears. Are you getting the picture? White on bottom, color on top.

When an egg is first fertilized, all the cells are the same. This is followed by a process known as differentiation, where individual cells start to take on their specific duties in the complete animal. In this process, some cells start to move from the part of the embryo called the neural crest (at the top of what will develop into the kitten), down over the sides of the embryo towards the bottom. These cells will later further differentiate into cells responsible for many functions, including the melanocyte cells that give color to a cat's skin and fur. If these cells contain the genotype ww and no alleles for white spotting, the population of cells will travel all the way to the bottom of the embryo. If they contain one or two copies of the white spotting gene, the cells will reproduce less effectively and the spread of the population will stop before they complete the full journey. If they have one or more copies of the epistatic white gene, this journey will be interfered with even more strongly, and the reproduction of these cells will stop very early in embryonic development. Not only will the cells never leave their point of origin at the tip of the neural crest, but the cells that do remain may not survive. This is why the "kitten cap" fades as the cat matures.

Other factors appear to influence this "pigment parade". Some bicolors have perfectly symmetrical markings, some have their white "askew". Some have one, well defined, unfragmented area of white, others have color that seems to scatter across an area. This could be due to other heritable factors or even possibly what is surrounding the embryo as it develops. In a study of the effects of ultrasound on developing human fetuses, no ill effects were found. However, they did find that more babies were lefthanded if they received ultrasound scanning prior to about 12 weeks. Science still has a lot to explore in the field of embryology and the effect of environment on developing cells.

Can there be bad effects from stopping the parade of pigment forming cells prematurely? Yes, and this is what causes deafness in some white cats and (very rarely) in bicolors as well. As I stated earlier, these marching neural crest cells have more than one function to perform. Another type of cell, located in the inner ear, is formed from these neural crest cells and is essential for sound hearing. That is why deafness is most common in blue eyed white cats and when it occurs in vans, only in those with VERY little color.

The pigment producing cells are responsible for giving our cats colored eyes as well as colored skin and fur. An eye without these cells is blue. If the cells have marched down from the neural crest far enough to give the eyes color, chances are they have progressed far enough to provide sound hearing as well. But remember how some bicolors are assymetrical? The same thing can happen in whites, causing odd eyed cats or deafness in only one ear. I have seen bicolored cats with eyes that are blue on the side towards the middle of the face and copper on the side towards the outside of the face. Now THAT is an odd-eyed cat! As breeding programs consistently produce bicolored and van cats with more and more white on them, blue and odd eyes have increased in frequency in these programs. However, any cat with white spotting, no matter how little, could have blue or odd eyes and could theoretically, although rarely, be deaf in one or both ears. Breeders have observed that if a white kitten has a "kitten cap" that the kitten is most likely sound of hearing. The kitten cap shows us how far the melanoblast cells have traveled. Most of these cats are not blue-eyed. When I initially started researching this subject, I was under the misunderstanding that all blue-eyed cats were homozygous and copper, gold, or green eyed cats were heterozygous for mutations of the KIT gene. This is not true. A kitten with only one white parent can still have blue eyes and/or be deaf, however the incidence is lower compared to cats that have the genotype WW or WWs. The expression of the white gene is highly variable, however the tendency towards blue eyes (and deafness) can run in certain lines. The more blue eyed cats in the pedigree, the greater your chances of experiencing blue eyed and/or deaf kittens. Homozygous whites (WW) or whites carrying the allele for white spotting (WWs) tend to have blue or odd eyes more frequently than heterozygous cats, indicating a possible "additive" effect influencing the migration of pigment cells.

In my opinion, kittens with blue eyes AND sound hearing cannot be selectively bred for with any degree of consistency. The epistatic white allele is pleiotropic, meaning that this one gene variant can cause multiple traits, including white coat color, blue eyes, and deafness. If you are selectively breeding for the pigment parade to stop as early as possible to get those lovely blue eyes, you cannot avoid running into deafness at some point. Breeding two "sound hearing" blue eyed cats (established through a neurological exam called a BAER test) to one another in an attempt to avoid deafness is a misguided approach, as it will create homozygous kittens (WW), a genotype which has been associated with a near 100% likelihood of at least partial hearing impairment. To obtain the lowest incidence of deafness, only copper, gold, amber, hazel, or green eyed white cats should be bred and they should be mated only to cats that are neither white nor white-spotted.

Do not fall into the trap of believing that there is a "deaf gene" or a "blue eyed" gene with a simple mode of inheritance. There is no such thing as a "blue-eye carrier", only a cat with a family history of blue eyes. Remember those Birmans? The pigment parade CAN be controlled, and in these cats to an amazing degree, but it would require many, many generations and very careful control of breeding stock, selecting only for degree of pigment progression. If you want to get an idea of how difficult this will be to do in a white program, visit a bicolor breeder and observe the diversity of pattern of white spotting in the kittens. The fun of working with bicolors is the incredible variety in expression of this gene. But it also shows how difficult it is for us to "paint" our cats with pigment just where we want it.

Blue eyes can be produced through another mechanism. Himalayan programs using white Persians or white Oriental Shorthair ("foreign white") programs can breed sound hearing, blue eyed white cats by incorporating pointed cats into their white breeding programs. If a physiologically non blue eyed white kitten is produced, where the pigment cells have migrated to the iris and inner ears, but the kitten possesses two copies of the recessive pointed gene (a form of albinism) a metabolic phenomenon can turn the kitten's eyes blue by suppressing pigment production in those pigment cells. However, keep in mind that the white gene is variable in its expression and a blue eyed deaf kitten can also be produced by the "traditional" effects of the white gene. My suggestion to avoid deafness in such a program? Use copper, gold, amber, hazel, or green eyed white cats for breeding that had large kitten caps when they were born. Some white cats even maintain a "kitten cap" in adulthood. These cats may have the least likelihood of producing deaf kittens.

For completeness, I would like to say that in some Himalayan and Siamese/Oriental lines there is an albinism gene that has travelled through the generations from early Siamese ancestors. This is the one case where a cat can be white without having one white parent. This variant of the tyrosinase gene (ca) is recessive to the much more common pointed allele (cs), which is a more mild form of albinism. I have only seen one albino Himalayan and one albino Siamese, both with very pale blue eyes with a distinct red cast from the lack of pigment in the retina. Most of these cats have vision problems, such as nystagmus (eye tremors) and photosensitivity. In the case of an albino, the pigment parade is not affected at all -- the pigment cells just don't do their job once they get to their destination.

So now that we know that there is no "blue eyed" gene and no "deafness" gene, what about those annoying lockets? This occurs when the pigment cells get "lazy" and stop just short of the completion of their normal journey. There may be yet unidentified variants of the KIT gene (or other genes) responsible for other forms of white spotting. Use a cat for breeding that had a "locketed" littermate and you may run into the problem again. Keeping good records of ALL kittens born to a breeding program can be a valuable aid in controlling the incidence of such undesirable traits such as lockets. In some cases, new forms of pigment parade disruption may be desirable, such as with blue-eyed cats with very little (or no) white spotting that have been seen in various breeds or have even been developed as new breeds. Be aware, however, that these mutations are effecting neurological tissue and mutations may have unwanted consequences. In the now extinct Ojos Azules breed, the mutation for blue eyes caused severe problems in homozygous form, similar to those seen in "double merle" dogs. Breeders working with new blue eyed or white spotting mutations need to proceed carefully.

I had stated that using bicolors or whites in a breeding program would not cause lockets. I would like to backstep a bit on that position. If a breeding program is selectively breeding for large amounts of white on their bicolors, they may also be selectively breeding for factors that can contribute to a slow migration and reduced reproduction of those marching melanoblast cells. This is also true of a program selectively breeding for blue eyed whites. This is purely speculation, and I would be interested in hearing from white breeders producing large percentages of blue eyed white kittens. Have you seen an increased incidence of locketed solids? Especially from lines that throw blue eyed whites bred to non-white cats? This may be the root of the "old wives tale" that using whites will improve the amount of white on a bicolor. Using blue eyed whites to increase the amount of white on a bicolor, however, would be far less effective than using a bicolor cat selectively bred for a lot of white. It is my feeling that any influence that a white cat could have on the markings of a bicolor would be very minor at best.

Taking advantage of the polygenes influencing other programs can also benefit someone wishing to increase the incidence of odd eyed whites in their lines. Some breeders have observed that adding bicolors to a white program will increase the incidence of odd eyes. In addition to the additive effect of the two KIT mutations, I think that increasing the incidence odd-eyes (over blue eyes) may be possible if ASSYMETRICAL bicolors are used. Bicoloreds with perfectly even V blazes may even DECREASE the odds of getting odd eyes over blue eyes, in my opinion, because these cats may reinforce the trait of symmetry.

Because the white spotting allele and the epistatic white allele are variants of the same gene, a white cat carrying white spotting bred to a non-white/non-white spotted cat will produce only white or white spotted kittens. The white cat's genotype would be WWs, the solid parent would be ww, and all the kittens would therefore be WWs (white carrying white spotting) or Wsw (white spotted). A ww kitten (non-white, non-bicolor) could not be produced. It also means that a white cat can never be masking "van", only bicolor. Luckily, commercial genetic testing is now available to determine a cat's genotype at the KIT locus for those wishing to control this factor.

I hope that this gives you some insight as to how our cats get white on them. Amount and placement of white on bicolors can be selectively bred for. Non blue vs. blue eyes on a white can also be selectively bred for, although keep in mind that deafness and blue eyes go hand in hand. The absence of lockets can be selectively bred for. I hope that by understanding the mechanism behind why our white and "with white" cats look like they do, you can make better decisions for your own breeding program.

I'd like to thank my usual references, Book of the Cat, Roy Robinson, and Dr. Pedersen's Feline Husbandry, as well as those embryology texts from college. I'd like to thank Laura Lewellen for answering my initial questions on this phenomenon. Thanks to Dr. Leslie Lyons and the other geneticists around the world working on identifying genetic variants in our cats. Please donate to Winn Feline Foundation to support continuing research into feline genetics.

References:

Bergsma D. R., Brown K. S., 1971. White fur, blue eyes, and deafness in the domestic cat. J. Hered. 62: 171-185

Victor A. David, Marilyn Menotti-Raymond, Andrea Coots Wallace, Melody Roelke, James Kehler, Robert Leighty, Eduardo Eizirik, Steven S. Hannah, George Nelson, Alejandro A. Schäffer, Catherine J. Connelly, Stephen J. O'Brien, David K. Ryugo. 2014. Endogenous Retrovirus Insertion in the KIT Oncogene Determines White and White spotting in Domestic Cats. G3 Aug 1;4(10):1881-91

Aoki H., Yamada Y., Hara A., Kunisada T., 2009. Two distinct types of mouse melanocyte: differential signaling requirement for the maintenance of non-cutaneous and dermal vs. epidermal melanocytes. Development 136: 2511-2521

Geigy C. A., Heid S., Steffen F., Danielson K., Jaggy A., et al. , 2006. Does a pleiotropic gene explain deafness and blue irises in white cats? Vet. J. 173: 548-553

Cable J., Jackson I. J., Steel K. P., 1995. Mutations at the W locus affect survival of neural crest-derived melanocytes in the mouse. Mech. Dev. 50: 139-150 Vella C. M., Shelton L. M., McGonagle J. J., Stanglein T. W., 1999. Robinson's Genetics for Cat Breeders and Veterinarians, Butterworth-Heinemann, Oxford, Boston

Ragdoll Fanciers Worldwide website, Mindy Ferreira, Ragdoll Fanciers Club International website, Isabelle Bellavance

Ryugo D. K., Cahill H. B., Rose L. S., Rosenbaum B. T., Schroeder M. E., et al. , 2003. Separate forms of pathology in the cochlea of congenitally deaf white cats. Hear. Res. 181: 73-84 Lyons L. A., 2010. Feline genetics: clinical applications and genetic testing. Top. Companion Anim. Med. 25: 203-212

Cooper MP1, Fretwell N, Bailey SJ, Lyons LA. White spotting in the domestic cat (Felis catus) maps near KIT on feline chromosome B1. Anim Genet. 2006 Apr;37(2):163-5.

Frischknecht M, Jagannathan V, Leeb T, Whole genome sequencing confirms KIT insertions in a white cat. Anim Genet. 2015 Feb;46(1):98.

David VA, Menotti-Raymond M, Wallace AC, Roelke M, Kehler J, Leighty R, Eizirik E, Hannah SS, Nelson G, Schäffer AA, Connelly CJ, O'Brien SJ, Ryugo DK. Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats. G3 (Bethesda). 2014 Aug 1;4(10):1881-91.


©Lorraine Shelton, 2018.
Reprinted with permission.

Genetics

[Translated to English from Swedish by Eva Gunnarsson, Nikopeja's Siberians, and Ulrika Olsson. Proofreading by Riëtte van Beek, Nidoba Maine Coons]

By Ulrika Olsson

  1. Introduction
  2. Basic genetics
  3. Different types of inheritence
  4. The color genetics of cats
  5. Cat genetics for coat, ears and tail
  6. The inheritence of some diseases and defects
  7. Breed to avoid genetic diseases
  8. How do we fight already existing health problems?
  9. Summary

Introduction

Why is one supposed to learn all this? After all, it is a hobby, not a profession!

In order to be able to breed in a good way one needs to know some genetics. And yes, cat breeding is "only a hobby", but that doesn't change the fact that genetic knowledge is needed, hobby or not. The breeds and with that the cats can be harmed, both in short and long term, if breeding is done in an inappropriate way. It is of course not ethically justifiable to harm cats just because of lack of knowledge. So if one doesn't have the time or interest in learning this, then one shouldn't breed cats. You can always show cats, and have fun with your cats in other ways!

Here you will get some basic knowledge on the subject. But we do recommend you to learn more on your own, by reading the recommended literature and other books related to the subject, or by going to lectures when an opportunity arises.

Basic Genetics

The cell

All organisms consist of cells. They live either as singular cells or as larger or smaller aggregations. Bacteria and microscopic creatures consist of one single cell, but higher plants and animals consist of many thousands, millions or billions of cells. In such complicated organisms the cells have different tasks and are gathered in organs with different functions. Examples of such organs are for instance brain, kidneys, and lungs or in plants leaves and pistils.

Form and size of a cell can vary very much. All of them can be seen though as a mixture of biological molecules inside a bag. The "wrapping" is called cell membrane and the "soup" within, the cytoplasm, contains a large amount of easily recognized structures, which all have a specific function. The largest structure is the cell core, called "nucleus", which contains the chromosomes.

The chromosomes are paired, so that if for example a gene for eye colour is on one chromosome in a pair then there is also a gene for eye colour on the same location, same "locus", on the other chromosome. It is not necessary the same predisposition for a certain eye color on both chromosomes, but it might be. Genes with similar functions are called homologous.

When a cell divides itself a doubling of the number of chromosomes takes place in that each and every of the chromosomes splits itself in half along the middle into a group of two. The pair is kept together in a certain place called the centromere. Since each cell has two copies of each chromosome to start with, this means that every cell, just before division, has 4 copies of each chromosome. The two original chromosomes of the pair are similar, but the two copies of each chromosome that are held together at the centromere, are identical! After this doubling, the centromeres line up in the center of the cell, where the centromeres split: the two chromosomes of the identical pair, now finally released from each other, moves to opposite sides of the cell. Since all chromosomes do this, the chromosomes are divided into two identical groups, each group moving to opposite sides of the cell to form the nucleus of the daughter cell. The cell wall is constructed between the two daughter cells and the process can start all over again. This type of cell division is called mitosis. Thus, during the mitosis the mother cell is divides into two identical daughter cells, which both have exactly the same set of chromosome as the mother cell.

Mitosis:

MitosisWeb

There is also another type of cell division: reduction division or meiosis. During meiosis the numbers of chromosomes are reduced so that the daughter cells only contain half as many chromosomes as the mother cell, one chromosome from each pair. These cells with a single set of chromosomes are said to be haploid (Greek: haploos=single). Cells which have sets of double chromosomes, that is all chromosomes in pairs, are called diploid (Greek: diploos=double). In higher organisms only gametes, reproductive cells like eggs and sperms, are haploid. If the gametes were not haploid the number of chromosomes would double itself in each generation.

Meiosis:

MeiosisWeb

 In several organisms, including mammals, there are two of the male chromosomes that do not form a homologous pair. They are called the x- and y-chromosomes. During the meiosis, two types of sperm are always formed, one with an x-chromosome and one with a y-chromosome. The female cells contain two x-chromosomes and each egg contains one of these. When an egg and sperms melt together during conception the chromosomes are mixed together and the diploid order is restored. One chromosome of each pair of chromosomes is hence from the mother and the other one from the father. The fertilized egg starts growing by mitosis. The sex of the new organism depends on whether the egg has been fertilized by a sperm with an x-chromosome, which gives a female, or a y-chromosome, which gives a male. Among certain species, birds for example, it is the other way around in that it is the egg cell that has two different gender deciding chromosomes.

Genes

The word gene, first introduced in 1910, was used as an abstract hereditary unit controlling a specific hereditary characteristic within a specific species. The existence of the genes was predicted in studying hereditary characteristic, like for instance the color of flowers, from known "parents" for many generations. The most famous studies were done by Mendel, an Austrian monk, on various characteristics of pea plants. The factor found deciding the color of flowers was present in different versions. In one case it gave white flowers, in another red. The same thing applied to the structure of the seed surface: some are wrinkled, others are smooth. These different varieties of one specific gene are called alleles. Each organism has two alleles for each characteristic, one from each parent. In every generation they are split up when the gametes are created during the reduction division (meiosis): each haploid germ cell has only one allele of the original pair. At conception a new combination is created. Both the alleles in the pair can be identical, and the individual is then said to be homozygotic (Greek: homos=same, zygon=pair) for that pair of alleles. If we call the alleles deciding the color of the pea flower for fr (red color) and fw (white color), an individual can have the following combinations: frfr = homozygote, fwfw = homozygote, frfw = heterozygote. The germ cell will have either the allele fr or fw.

The alleles for different hereditary characteristics is often transmitted to the gametes independently of each other, since the different genes often are placed on different chromosomes or far from each other on the same chromosome. A pea plant can for instance have the alleles frfw color of the flower and slsk for long respectively short stem. The gametes can then contain either of the following combinations: frsl, frss, fwsl or fwss. When the gametes are formed the alleles are transmitted for color, fr and fw, independently of the alleles for the length of the stem, sl and ss.

Crossover

Sometimes the genes for two different characteristics are placed on the same chromosome. If the gene for flower color and the gene for stem length would be on the same chromosome, one might not expect to get both red flowering and white flowering pea plants with both long and short stems. Instead, one would expect the allele for long stem to follow the allele for red flowers, so that one would only be able to get red flowering high plants or white flowering small plants. Well, now this is not the case, for during the reduction division the two paired homolog chromosomes cross over each other and exchange parts. This is called crossover or recombination. As a result, the chromosome that an individual gets from its mother contains parts of the chromosome from the mothers mother, and parts of the same chromosome of the mothers father. Though, still it is so that alleles placed on the same chromosome tend to follow each other. The closer they are the less is the likelihood that a crossover will take place in between them, and the greater the chance that the alleles will follow each other. The genes are said to be linked.

Mutations

A chromosome is a very, very long DNA molecule. Each genes consist of a little piece of such a DNA-molecule. Sometimes something goes wrong during the duplication of the chromosomes so that a part of the DNA-molecule, maybe part of a gene, is different from the original molecule. The cell with this incorrect DNA-molecule then divides, and the fault is spread further. Even gametes can have an altered DNA-molecule and then all cells in the offspring, or new organism, will have the same defect. This alteration is called a mutation. Some of such mutations don't affect the individual at all. Others may have such a drastic consequence that the individual will not be able to survive, but some mutations will give altered but healthy individuals. Example of such mutations could be the gene for non-agouti and dilution in cats. Some mutations even have a positive influence in the survival of the individual compared to other. Then this new predisposition will spread and animal and plant species have been improved through mutation. This is the basis of the theory of evolution. The natural selection will take care that only animals who are fit will survive, while unhealthy mutations will be weeded out.

Different types of inheritence

Dominant - recessive

Gregor Johann Mendel, the father of genetics, experimented with pea plants. As we mentioned before, one of the things he looked at (that he studied) was the colour of the flowers. He started with two pea species which in cultivating had shown to be stable with regards to the colour of the flower. One strain gave always red flowers and the other strain only white flowers. Mendel crossed these strains by transferring pollen from one kind to the pistil of the other. The result was plants which had only red flowers. These plants then were allowed to reproduce by themselves. This time the offspring was not homogenous. About three quarters had red flowers and one quarter of the plants had white flowers. One calls this a splitting between two different types with a splitting ratio of 3:1, which shows the number plants with red flowers and those with white flowers (see below). Mendel assumed that all plants, which resulted from that crossing between the two types, contained the predispositions for both read and white. He assumed also that the red color had a stronger influence than the white. He hence called the stronger influential predisposition for dominant. The weaker capacity he called recessive. He declared that the dominant gene for red flowers completely hid the recessive gene for white flowers in the heterozygotic plants.

Dominance

 

There can be two different types of gametes present in each of the parents:
Gametes from the male - fr and fw
Gametes from the female - fr and fw

splittingratio3red1white

 

Incomplete dominance

The dominance of one allele over an other is not always complete. Sometimes one can distinguish a homozygotic individual from a heterozygotic one. One clear example of this one can find in the Four O-Clock flower, Mirabilis. Here the red color is incomplete dominant over the white. Heterozygotic flowers get at color in between red and white - they become pink. This is called incomplete dominance.

If one crosses a red and a white Mirabilis all the offspring will have pink flowers. If one crosses two pink flowers we get the following breeding chart:

splittingratio1red2pink1white

Over-dominance

Sometimes the phenotype for the heterozygotic individual is more extreme than both the homozygotic varieties. That is, if pp gives a light pink flower and PP gives a dark pink flower, then Pp gives a dark red flower! And that feels a little unexpected. This phenomenon is called over-dominance and occurs among other things in the immune system: individuals that are heterozygotes for genes of the immune system, are often healthier and have a better chance of survival than individuals that are homozygotic (with whatever allele) for these genes.

Polygenes

Sometimes two or more genes can contribute to one specific characteristic. This has been studied for example on wheat. Wheat seed has as a rule a red hue, but even pure white seed exist. When crossing between a stable red seed variety and a white one, one only gets red seed. In the next generation the white seeds surface again. This depends on that wheat have two different genes for the color of the seeds, which are placed in one chromosome each (inherited hence independently of each other). The first crossing can be written as R1R1 R2R2 (red) x r1r1 r2r2 (white), which the gives R1r1 R2r2 (red). The dominance by R1 and R2 is incomplete, and due to this the effect of the genes can be added. This results in that the red colored wheat seeds can have different hues of red. Crossing between two of the genotype R1r1 R2r2 will give the following crossing table and colors:

polygenes1

We then get a scale of five different nuances while only having two pair of genes involved. When it comes to for example the size of a cat, length of fur or the amount of undercoat, there certainly are many more genes involved. The result will be a continuous scale between two extremes.

Sex-linked heredity

Color blindness in humans is an example of a predisposition that is a sex linked inheritance. The predisposition is recessive and placed on the x-chromosomes. To mark this we can call it Xf, and the dominant gene for normal color viewing we can call XF. It is commonly known that there are a significant amount of men who are color blind than there are color blind women. The reason for this is that a color blind woman needs to have the defect on both her x-chromosomes, otherwise the dominant gene for normal color vision would override so that she didn't show the defect. A man on the other hand only has one x-chromosome and if the gene for color blindness is situated on it then he is color blind. There is no gene for color vision on the y-chromosome that could correct the defect.

The consequence of this will then that for a woman to be color blind she must have inherited the defective gene from both her father and from her mother. The father is then color blind, since the gene cannot be hidden with men. The mother on the other hand doesn't have to be color blind; she can carry it as a hidden gene.

A color blind man must have inherited the disposition from his mother, since he has have inherited the y-chromosome from his father and hence the x-chromosome must come from his mother, and with the x-chromosome comes the defective gene.

For example: we make a mating scheme between a color blind man and a woman who carries a hidden predisposition:

sexlinkedheredity

Epistasis

Some alleles are not only dominant over other alleles belonging to the same locus but they also obscure the effects of other genes. Or maybe it is recessive towards another allele on the some locus, but still obscuring the effects of any allele in another locus. This is called epistasis. One example of this is the gene for white in cats, W. This gene is epistatic to all other genes for coat color - whether the cat carries genes for black, blue, red, agouti or spotted, it will only be the white color that is showing.

The color genetics of cats

When starting as a breeder one should learn how colors are inherited in cats. First of all one need to know what the different colors and patterns look like. At least one should know the colors of the breed one plans to breed. Different colors can be studied at shows - ask the cat owners if you are unsure what the color of a cat is, or to see if you had it right. Maybe your cat club can arrange a seminar in color classification?

When you have learned the different colors it is time to learn about color genetics.

The original domesticated cat is a shorthaired brown agouti cat. All other colors and varieties that exist have arisen later as mutations from this.

Red or black pigment

Cats as you know have many different colors, but there are only two different types of pigments: eumelanin, black, and phaeomelanin, red. A male cat can only have one type of pigment, while a female cat can have both (tortoiseshell and tortie). This is because the gene for pigment type is situated on the x-chromosome. The inheritance is thus sex-linked. A male has one x-chromosome and one y-chromosome, and hence, can only have EITHER the allele for black pigment or the allele for red pigment. Females on the other hand have two x-chromosomes and the can have BOTH an allele for black and an allele for red. None of the alleles dominates over the other so the cat will be both red and black - tortie. A female can of course have the allele for black on both x-chromosomes. She will then be black. She can also have the allele for red pigment on both chromosomes, and then she will be red.

Denomination: Xr = x-chromosome with an allele for phaeomelanin, red pigment
              Xb = x-chromosome with an allele for eumelanin, black pigment
              Y = y-chromosome, no gene for pigment
Alternatively: O = red (orange)
               o = black

Remember that a male always must inherit the y-chromosome from his father and thus his x-chromosome will come from his mother. A male cat's pigment will always come from his mother, while his father's pigment is not inherited. A female cat on the other hand gets her x-chromosome from her father. She inherits thus her father's pigment. And she also gets one of her mother's x-chromosomes. She thus inherits pigments from both her mother and her father. Notice that this is only true for genes on the x-chromosomes, so for the colors of the cat it is only true for red versus black. Silver, agouti/non-agouti, dilution and other is inherited regardless of sex.

For example: A tortie female is mated to a black male. The female can either give Xb or Xr to the kittens. The male can give Xb or Y.

redorblackpigment

 The chance of getting a black female is one to four, 25 %. The chance of getting a black male is also one to four, 25%, exactly as the chance in getting a tortie female and a red male.

Agouti or non-agouti

In an agouti cat some of the hairs are striped, while others are fully colored. In a brown agouti cat, for example, the hairs in the black part are black, while the brown areas are mostly black- and brownish striped hairs.

The non-agouti variety corresponding to brown agouti is black. The allele for non-agouti is recessive. Both parents must thus carry the non-agouti allele for an offspring to become non-agouti.

The non-agouti gene doesn't work that well on red cats. Non-agouti red cats show the same tabby markings that they would show if they did have the agouti-allele. One usually can decide whether a red cat is agouti or non-agouti by looking at the area between the nose and the mouth. An agouti cat is white or very light colored in that area, while a non-agouti cat has approximately the same color there as in the rest of the face. The same thing applies to cream colored cats. If the cat is red-white or cream-white and has a white spot over the nose it will of course be impossible to decide whether the cat is agouti or non-agouti by using this method. One can look at the rim of the ears - they are lighter on an agouti than on a non-agouti.

Denomination: A = agouti
              a = non-agouti

Patterns

Agouti cats can be blotched (or classic) tabby, mackerel tabby, spotted, or ticked (Abyssinian).

A mackerel tabby is, like the name suggests, a cat with vertical relatively small stripes on the body. A classic or blotched tabby has broader bands and the pattern is more marbled. Spotted means that the cat has dots and a ticked cat has a dark stripe along it's back continuing out on the tail tip while the rest of the cat is pure agouti without any markings. Abyssinians and Somali are example o breeds that have ticking, and this pattern is often called Abyssinian.

The three patterns blotched tabby, mackerel and ticked, are the result of three different alleles on the same locus. The gene for ticking is dominant over the other two, and the gene for mackerel is dominant over the gene for classic tabby.

Denominations: Ta = Aby pattern, ticked tabby
               T = mackerel tabby
               t (alt. tb ) = classic/blotched tabby

One doesn't know the exact genetics behind a cat becoming spotted. There might be one or more genes breaking up the bands on a tabby or the stripes of a mackerel into spots. It is generally considered that the spotted cats that have tabby as a foundation will have the sharpest dots. It is not unusual for cats to have both stripes and dots, so it might be hard to decide whether a cat is mackerel or spotted.

News! A new theory about the inheritence of the different tabby patterns has been suggested. Read about it here, in Dr. Lorimer's website!

The gene for dilution

The dilution gene causes a modification so that the color becomes lighter. This is because the pigment granules are forming clumps. To the eye the coat looks lighter, in the same way as a mixture of black and white grains of sand look grey. The allele for dilution is recessive. It makes a black cat blue and a red cat cream. A brown tabby cat becomes a blue tabby.

Denominations: D = non-dilution, black/red
               d = dilution, blue/cream

The genes for chocolate and cinnamon/sorrel

The allele for chocolate is causing the hairs to become lighter for other reasons than the allele for dilution. In chocolate cats the black pigment granules, which normally are round, are a bit flattened. This enables more light to be reflected - the coat looks paler. This allele is also recessive. A cat which otherwise would have been black becomes, as the name implies, chocolate colored. A blue cat becomes lilac. The chocolate allele doesn't work on the red pigment, so red stays red and cream will be cream. The chocolate allele first came from the Siamese and can therefore be seen in all breeds that have the Siamese pointed colors recognized. This is also present in the Oriental Shorthairs, which are very closely related to the Siamese.

The cinnamon/sorrel allele flattens the pigment granules even more than the gene for chocolate which makes the coats seem even lighter. This allele is recessive to both the allele for chocolate and the allele for normal pigmentation. An oriental with this color is said to be cinnamon colored and it describes the color perfectly. The sorrel color of the Abyssinian is genetically identical to the cinnamon of the Oriental, but since the Abyssinian is ticked while the Oriental is non-agouti they don't look that similar. Earlier the sorrel colored Abyssinians were called red, but the breeders back then realized rather quickly that they couldn't be genetically red since there were never born any tortoiseshell colored Abyssinians.

A diluted cat with cinnamon/ sorrel genes in homozygotic alleles is called fawn. This cat can be said to be more beige or ivory colored. This gene does not work on red and cream.

Denominations: B = normal pigment, black
               b = chocolate (brown)
               bl = cinnamon/sorrel (light brown)

The albino series
(Himalayan/Siamese coloring, Burmese coloring, albino)

The albino series consists of five alleles. The gene for normal color, for example black, is dominant and is represented by C. cb is the gene that gives the paler color of the Burmese, the black cat becomes brown. cs gives Siamese coloring, ca gives a white cat with blue eyes, a blue eyed albino. This cat is not to be mixed up with the more commonly dominant white cat, which also can have blue eyes. And at last there is a gene called c. It gives genuine albino cats, which are white cats with red eyes.

The cb allele is not fully dominant over the cs allele. A cat with the genotype cbcs has a coloring inbetween Burmese color and Siamese masking. The color of the eyes is turquoise. This coloring represents a special breed, not yet recognized in FIFe. It is called Tonkinese and cannot be pure bred. In a mating between two Tonkinese there is a 25% chance of getting Siamese masked kittens, 50% chance of getting Tonkinese and 25% of getting Burmese colored kittens.

The Siamese colored kittens are born completely white. The color of the mask doesn't appear until after a week. This is due to that the cells of Siamese colored cat cannot develop any pigment if the temperature is too high. When the kittens are in the womb of their mother's they are warm and comfortable, and no pigment at all is developed. When they are born it becomes cool enough for the pigment to develop on the cooler extremities, like for instance ears, legs and tail. This temperature dependant pigment production is called acromelanism. Acromelanism is present in other animals, for instance in rabbits.

The color snow leopard, present in Bengals, is primarily a masked cat with relatively weak contrasts between mask and body. The dots can therefore be seen all over the body, but the markings are a bit darker in the face, on the legs and on the tail.

Foreign white is a Siamese with the gene for dominant white, W (see below). The result is a completely white cat with the dark blue eyes of the Siamese. A normal white blue eyed cat has considerably lighter eyes.

Denominations: C = normal colour
               cb = Burmese
               cs = Siamese
               ca = blue-eyed albino
               c = true (red-eyed) albino

Silver

The silver gene is dominant, and it inhibits the development of pigment in the coat. The under coat will be white, while the tip of the hairs will keep its colors. In an agouti cat the most obvious effect can be seen in the lighter areas, between the dark tabby markings. A silver cat that is non-agouti is called smoke.

Denominations: I = silver (inhibitor of melanin)
               i = non-silver

Dominant white

The gene which makes a cat pure white is dominant. This allele inhibits the normal function of the coloring cells, so that no color is produced. A completely white cat thus carries the genes for red/black, agouti/non-agouti, dilution/non-dilution, etc. The gene for white is thus epistatic.

Pure white cats often have a color spot on the head when they are born. It disappears when the cat has developed its adult fur. This spot can reveal what color the cat has underneath the white.

White cats can have yellow eyes, blue eyes or one blue and one yellow eye (odd-eyed). One doesn't know how the eye color in this case is inherited.

White cats are often deaf. This is due to a degenerative change of the cochlea in the inner ear. It is definitely more common with deafness in blue-eyed white cats than in yellow-eyed, but there are yellow-eyed white cats that are deaf and blue-eyed cats with normal hearing. Cats can also be deaf on only one ear. Odd-eyed cats are often deaf on the ear which is situated on the same side as the blue eye.

Denominations: W = white
               w = non-white

Piebald white spotting

It is very unclear on how piebald white spotting is inherited. The generally accepted theory is that there is an incomplete dominant gene, S (spotting), which gives any amount of white spotting. ss would then signify a cat without white. Ss would mean bi-color (white paws and legs, white on the breast and white in the face) and SS would be a highly graded white cat, like harlequin and van. It is without a doubt not the whole truth. There must be more genes that modify the expressions of these genes, since there are not three sharply divided groups of piebald cats, but instead the variation seem to be continuous.

Breeders of Birman can hardly be satisfied with the above mentioned theory. Birmans have white paws, and when two Birmans are mated all kittens get white paws. One never gets any cat completely without white and one never gets a harlequin or van colored cat.

Hence one has come up with the theory of a recessive gene for white paws. This is denominated as g (gloves). GG is according to this theory a cat without white. Gg could possibly give a cat with a white medallion or a white spot on the tummy and gg would give white paws and maybe a bit of white on tummy and throat (these spots would be concealed in the light coat of the Birman).

Now and then one sees examples of that these theories together are not enough to explain the piebald white spotting, but yet there are no other theories that explains this better. We must take into account that polygenes also are involved in this.

The Chinchilla gene

Earlier one believed that chinchilla and shaded silver were only extreme varieties of silver agouti. Now many believe that there is a special gene responsible for these color variations (polygenes are also involved). The assumption is that this gene will cause to widen the light bands of the agouti hairs, which causes the whole hair, except the outermost tip, to become light. Even the single colored hairs on an agouti cat will be light. The gene doesn't work on non-agouti cats. The gene is called Wb (widening of band) and is incompletely dominant. WbWb gives shaded silver or shaded golden and wbwb gives a normal agouti coat. Cats with the genotype A- WbWb are also said to be tipped.

On newly born tipped and shaded kittens one can almost always see signs of tabby/mackerel/spotted. The kittens will get lighter for a long period before they get their final coloring.

Rufism

Rufism is a term representing the relatively large variation of brown pigmentation in cats. The amount of rufism decides whether a brown tabby cat will have a warm brownish color or a more grayish color. It will also decide whether a red cat will be a warm dark red or a pale orange. The variation between these two extremes is continuous. Hence, this characteristic is probably influenced by many other genes (polygenetically inherited), where many genes add small positive or negative effects.

Some consider the brown spots that one sometimes sees on silver cats, also as highly graded rufism, while others think that this is not connected to rufism.

The amount of rufism is often very important when breeding for color, as one does with Persians. In brown agouti cats one wishes to have as much rufism as possible. And a wild colored Abyssinian without a high grade of rufism wouldn't look particularly impressive. In red cats, one gets a Êdeep warm red color only with a lot of rufism: the more rufism, the warmer the color. A silver tabby show Persian should not have any brown spots. If you breed silver cats and support the theory that the brown in silver cats are caUsed by rufism, you will want as little rufism as possible. Even other colors are affected by rufism, but not as much as in the above mentioned variations.

Extra reading on tortoiseshell cats

What makes some areas in a tortoiseshell red and others black?A few days after conception, when the original cell has divided itself in many similar cells, one of the x-chromosomes is shut down in each cell. For the rest of the life there is only one x-chromosome in the cell that is functioning. Randomly it's decided which x-chromosome is to shut down. When the cells again are dividing themselves the daughter cells will have the same x-chromosome shut downed as the mother cell. This will make the cat have a mix of red and black markings.

Tortoiseshell males

A male can't be tortoiseshell since he only has one x-chromosome. Still, sometimes a tortoiseshell male appears in a litter. How can this be? Must he then not have two x-chromosomes? Yes, this is exactly how some of the events of the tortoiseshell males are explained. Some of them have something wrong with their chromosomes, they have two x-chromosomes and one y-chromosome. Either the mother put two x-chromosomes in the egg, or the father gave both his x-chromosome and his y-chromosome to the sperm. The same chromosomal aberration occurs in many other animals and in humans. It is called Klinefelter's syndrome. This chromosome aberration leads to sterility - when a male tortoiseshell is not sterile, then he is tortoiseshell because of another reason.

tortieshell1

XXX - meta-female, to humans: look normal, at least some of them, maybe all, are fertile.
XXY - Klinefelter's syndrome.
X0 - Turner's syndrome, to humans: short in growth, childish, often sterile. Mice with Turner's syndrome look like and appear just like normal mice.
Y0 - dies early in development of the foetus.

The tortie coloring of a male may also be caused by a fault in the pigmentation of the skin. This is often seen in a red cat, that has some spots, sometimes even large spots, of black. These males breed as a red male. In principle, one might get a black tomcat with a bit of red. Such a cat however has never been reported.

Yet another variety of tortoiseshell males may be caused when two fertilized eggs, maybe already grown to a group of cells, are united and becomes one embryo. This is the reverse of one fertilized egg splitting into two embryos, that become identical twins. If one of the fertilized eggs would have become a black tomcat, while the other would have become a red tomcat, then the combined embryo will be a tortie male cat. There has for example been born a red-blue and white tabby Maine Coon in the US, who has been shown to be the result of such a combination of fertilized cells. The male is fertile and has given only the red color to his kittens.

Of course, these anomalies can also occur where both X-chromosomes carry the same color. Then the result is not a tortie tom, but a plain normal red (cream) or black (or variant) male cat. These males will never be suspected of being something special.

If you are interested in seing pictures and reading more details, you can look at this private website.

Cat genetics for coat, ears and tail

Longhair and shorthair

The gene for longhair is recessive. The differences in length of coat one can see in comparing a Persian with a semi-longhair cat, for instance a Ragdoll, is due to modifying polygenes, that is genes with plus or minus effects, depend on the variation of the degree of longhair to shorthair.

Denominations: L = shorthair
               l = longhair

 

Cornish Rex - r

Cornish Rex has awn hairs and down hairs, but have no guard hairs. The coat hairs are shorter than normal and wavy. The whiskers are also shorter than normal and often bent. This rex gene, which is recessive, appeared in 1950 in Cornwall, England. The curly coat of the German Rex seems to be caused by this gene too.

Devon Rex - re

The Devon Rex has a coat similar to Cornish Rex, but at a closer inspection one can see that the Devon Rex - as opposed to the Cornish Rex, has guard hairs. The coat hairs of the Devon Rex are even shorter and more extreme than the Cornish Rex. This gene is recessive and has another locus than the r-gene. If one mates a purebred Cornish Rex - rr ReRe - with a purebred Devon Rex - RR rere - all kittens will have normal coats (shorthair) with the genotype Rr Rere. The Devon rex-gene appeared in Devonshire, England in 1960.

Hairlessness

As well as there are several different genes giving curly coats there have also surfaced different mutations causing hairlessness in cats. One was discovered in France in 1930s. It was called h and was recessive. The most known mutation appeared in Canada in the beginning of 1970. This gene has been taken care of in the breed of the Sphynx. The gene causing the hairlessness of the Sphynx is also recessive and has the denomination hr. There are only these two variations that have been examined by genetics, but hairless cats have been found in different parts of the world, like for instance Australia, Mexico and Morocco.

Manx

The Manx is the well-known tailless cat, said to originate from the Isle of Man in Great Britain. The breed is relatively old, but also controversial, since some defects may follow the Manx gene. The gene is incomplete dominant and lethal in its homozygotic form. In heterozygotic form it might, apart from giving a very short tail or taillessness, give more or less shortened vertebrae, anomalies in the pelvic region with problems in movement as consequence, neurological problems and distorted intestines. There are however different opinions on how severe these problems are. The gene is denominated M.

Japanese Bobtail

Japanese bobtail is a very old breed from Japan. It has approximately one decimeter long tail which is often bent or curled and stiff. This type of tail is caused by a recessive gene. Unlike the Manx-gene this gene doesn't seem to affect the cat in any other way.

American Curl

The breed American Curl is founded on a gene which gives a defect on the external ear, the ear is bent backwards. The effect of the ears is developed when the kitten is between twelve and sixteen weeks old. The first cat of this kind first appeared in 1981 in California. The gene, denominated Cu, is dominant. It seems like this gene is of no harm to the cat, whether it is in heterozygotic or in homozygotic form.

The inheritence of some diseases and defects

Hypertrophic Cardiomyopathy - HCM

Hypertrophic cardiomyopathy, or HCM, is the most common heart disease among cats. The disease, which also exists in humans, causes enlarged heart walls in the affected individual. The disease cannot be seen from birth, it evolves gradually. Some cats die from the disease as kittens, but the most common is that the cat is free of symptoms for many years. At an ultrasound most of the cases, but not all, be found at the age of three if the examining veterinarian has good equipment and is knowledgeable in the field, but an affected cat can in some cases live long with its disease. Often the cat has no symptoms until it suddenly dies of a serious arrhythmia, or by a blood clot often situated in the back legs. The cat can also develop heart insufficiency. Possible medical treatment is only meant to relieve the symptoms, it is not a cure.

The disease appears in Maine Coon and British Shorthair to be inherited mainly as a dominant gene. Other breeds have not been studied in regard to this, but there is reason to believe that the inheritance is similar. The development of the disease varies however between different breeds, hence one suspect that there might be several different mutations causing the disease within different families. This is also the case in humans.

Polycystic kidney disease - PKD

Cats, who are afflicted by polycystic kidney disease, or PKD, will in time get more and larger cysts in the kidneys. These will force away the normal kidney tissue, so that the function of the kidneys is growing more reduced. Little by little the cat will feel ill, it will loose weight, doesn't want to eat. It also drinks more than usual. One can make it easier on the cat's kidneys by giving it diet food for kidney problems, but there is no cure for the disease itself.

The disease is inherited by single dominance. Experienced veterinarians with good equipment find most cases, but not all, at the age of one year.

Hip Dysplasia - HD

When one hears about hip dysplasia most people think of dogs, but the problem exists also among cats. Hip dysplasia is a hereditary defect in the pelvic capsule making it not as deep as it normally is. This causes the hip capsule not exactly fit into the pelvic capsule and the surfaces start starts to grind against each other. This might cause pain when the cat is moving. Cats are very good at hiding pain and can suffer from their HD even though they are not limping. Instead they might move a little bit calmer or less and avoids high jumps. Cats with mild HD don't have to have any complications.

HD in cats is believed to be inherited polygenetic recessive, which means that two HD-free cats together can have offspring with HD. Two cats with HD might have HD-free kittens, but the chances for normal hips are of course better if the parents have good hips.

Patella luxation - PL

Patella luxation is a defect where the kneecap (patella) has a tendency to slip out of its position, it luxates. The cause of this might be that the trochlear groove in which the kneecap rests has to shallow and rounded sides and/or that the ligaments keeping the kneecap in place are too loose. PL can also be caused by an accident. The symptoms are that the cat suddenly stops when walking, with the leg stretched out to the rear. By backing a little the cat might get the kneecap to jump back into the right position. The cat might also be hurting in the knee and getting inflammations. Cats with symptoms can be operated.

PL seems to be polygenetic.

Progressive retinal atrophy - PRA

This disease causes the retina to degenerate. In time the cat will be completely blind. There is no cure for the disease, but if the cat lives indoors, and if the furniture is not moved around to much in the home, even blind cats manage quite well and can live a long life.

PRA exists in different varieties, one is hereditary dominant, one recessively, and then there is one variety that one doesn't know if it's hereditary.

Gangliosidosis - GM1 and GM2

Gangliosidosis is a hereditary disease (actually two, GM1 and GM2) caused by a defective enzyme. This results in that a substance is stored in the brain of the affected cat. The first symptoms can be seen at the age of 2-4 months, when the cat starts showing bad coordination in the back legs, weakness and tremor. This gradually gets worse and leads to paralysis, blindness and epileptic seizures. The disease is lethal.

There are, as mentioned above, two variations of this disease, GM1 and GM2. Both are caused by single recessive genes. Fortunately a DNA-test exists for both varieties, so one can test relatives to the afflicted cats with a blood test.

Umbilical hernia

An umbilical hernia is a hole in the white ligament, where the abdominal muscles are jointed. Through this hole, if one is unlucky, parts of the intestines might fall out. This can cause a blockage in the intestines so that they burst. The result might be a life threatening inflammation in the abdomen. Umbilical hernia should be operated in order to prevent this.

The hereditary of umbilical hernia is unclear. It might be different types of inheritance in different families and breeds. Umbilical hernia might also be caused by accidents.

Flat chest

Kittens with this defect look as a rule normal at birth, but at approximately 1-2 weeks of age the chest falls inward and becomes compressed. Even the back might at the same time become bent. When this happens the kitten will gain little weight, maybe even the weight falls a bit, but then it picks up in a fairly normal rate, if the defect is not too substantial. In slight cases the flatness might reverse completely before the kitten is ready to move to a new home, so that it will not even be a remark on the veterinarian's examination. Of course such a kitten shouldn't be used in breeding, and the buyer should be informed of that the kitten has had a flat chest. In severe cases of flat chest it might be less room for the internal organs as the kittens grow, so that it will not be able to survive. Between these two extremes are the cats that easily get tired and out of breath, but in spite of this can live with the defect.

The hereditary has been studied on Burmese and it seems to be a single recessive gene in that breed.

Chryptorchidism

Sometimes it happens that a male kitten's testes, or one of them, don't descend from the abdomen to the scrotum. Instead they, or it, will stay in the abdomen or in the groin. This is when a cat is called chryptorchid. Testes that are not in place will not be able to produce sperms, but they will produce sexhormones. A bilateral chryptorchid cat will act just as a normal male, unless he is neutered, even though he is sterile. There are studies proposing a higher risk of cancer in testis's that are malplaced, and this might be yet another reason to neuter chryptorchid males, even if this means searching for the wandering testis in the abdomen, which sometimes isn't that easy.

One doesn't know how chryptorchidism in inherited, but it is for sure SOME type of "sex-restricted" inheritance. That the inheritance is "sex-restricted" means that even females can carry genes for chryptorchidism, even if they of course don't show it themselves. If one for instance wants to continue with a kitten in a litter where there is a chryptorchid kitten, it is safer to choose a normal male than choosing a female. The female might have the same genotype for chryptorchidism as the brother who has the defect and passing on the problem to her sons in the same way as the chryptorchid male would do, while a normal brother shows that he has a better genotype in regards to this.

Hereditary muscle dystrophy (myopathy, spasticity)

There is a hereditary disease, usually just called myopathy (earlier "spasticity"), which causes degeneration of the muscles in shoulders and pelvic. The first symptoms of the disease usually show sometime between the ages of 2 weeks and 6 months. The afflicted kitten usually is drawn back and more quiet than its siblings. They then get a problem with keeping the head up, and they may also walk a bit stilted. The disease, which has no cure, will lead to death, usually before the kitten has reached adulthood.

The disease is inherited by a single recessive gene.

Kinked tails

Kinked tails show themselves now and again on all cats in all breeds, even in domestic shorthair. It is a defect on the tail, very often on the outermost tip of the tail, which can vary a bit in type and in degree. Some kinked tails can be seen already on the newborn kitten, but they can also take as long as 1? years before it is shown. Before that the skeleton is not fully outgrown, and hence hereditary tail kinks might gradually evolve.

It is not known how kinked tails are inherited, but a single recessive gene or polygenes have been suggested. Probably there are different types of kinked tails, which also are inherited differently. A kinked tail might also be caused by an accident.

Breed To Avoid Genetic Diseases

The risk of genetic diseases is something that is discussed more and more often among cat breeders and in the different cat clubs and associations. Of course we all want our cats to be healthy! Still bad genetic diseases show up every now and then in different breeds. Why does this happen? What can we do about it? In order to understand what is happening in our breeds when the genetic "epidemics" show up, and in trying to control them, one needs to have a little knowledge about the basics of population genetics.

An important word: Gene frequency

Using the gene for dilute color as an example, let us assume that we have a breed population of 100 cats. Since every cat has a double set of chromosomes, this population will have 200 loci for the dilution gene - meaning 200 places where the D or d gene can be situated. Now assume that 40 of these loci are filled with a d-gene, while the remaining 160 are filled with D-genes. Then the gene frequency for d in this population is 40/200 = 0.20 = 20%. In the same way we find that the gene frequency for D is 160/200 = 0.80 = 80%.

Effective Population

The fact that some breeds are larger in population than others and also the fact that the gene pool can be too limited in a small breed is probably obvious to most breeders. But far too many breeders feel secure in that the larger breeds - for instance Persians and Birmans - have a large enough gene pool. No risk of inbreeding problems there, unless you choose to deliberately inbreed a line! But that is not always true.

We sometimes discuss the fact that overbreeding from a few outstanding individuals is harmful for breeds, even the larger breeds. The most extreme overbreeding from one individual that we could imagine is if one single male is mating every female in a population in a generation. With that kind of breeding, of course the gene pool will not be large, even if the population contained a thousand unrelated females. In order to get a better idea about just HOW large the gene pool really is in such a case, we could calculate the effective population. If the population contains 100 individuals, with an equal number of males and females, all of which are mated randomly to each other with the same amount of offsprings resulting from every parent, then the EFFECTIVE population is also 100.

On the other hand, with the extreme overbreeding of one male described above, we can calculate the effective population with the following formula:

       1       1        1

      ---- = ------ + ------

       Ne    4 x Nm   4 x Nf

Where Ne = the effective population, Nm = number of males, Nf = number of females.

Generally speaking, the effective population will not be larger than 4 times the number of individuals of the least represented sex. (Unless you have set up a breeding program specificly designed to avoid losing genetic variation, but that is very seldom the case in cat breeding.) This means that if 5 males are used, the effective population will not be more than 4 x 5 = 20, even if we could use a million different females in that breeding program.

In reality of course it is seldom the case that five males are used for equally many litters and the remaining males in the population are not used for breeding AT ALL. Then it gets a bit difficult to use this formula. But don't worry! There are other methods!

A too small effective population will cause the degree of inbreeding to increase for every generation. There is a connection between inbreeding and effective population. Using this connection we will be able to calculate the effective population of our cat breeds. We can use our pedigrees to calculate the coefficient of inbreeding, COI. The easiest way of doing this is to enter the pedigree in a good pedigree program that is capable of calculating the COI. It is also possible to calculate it by hand. It is not difficult at all, but if the relationships are complicated and you want to calculate the COI from many generations, it is very time consuming, and there is a considerable risk to make a small error somewhere along the way. However, if the relationships are simple and the number of generations to calculate from is reasonable, you could quickly calculate the COI directly from the pedigree.

Simple calculation of the inbreeding coefficient

Even though there are computer programs, which will calculate the inbreeding coefficient automatically, based on pedigrees entered into a database, it is still handy to be able to calculate the inbreeding in less complicated pedigrees manually. Here is a short description on how to calculate the inbreeding coefficient from a pedigree by using the path coefficient method.

The Path Coefficient Method

Start drawing an "arrow pedigree", where every individual only appears once. The arrows should point from parents to offspring and always point downwards, or diagonally downwards.

Example 1

pathcoefficientmethod1 

Example 1: Ordinary pedigree and arrow pedigree.

In the arrow pedigree we search all paths that go from one parent to the other without passing any individual more than once. For each path we count the number of individuals involved. The contribution from each path to the inbreeding coefficient is 1/2 raised to the number of individuals involved in the path.

From the arrow pedigree in example 1 we then get two paths from one parent to the other:

CAD -> (1/2)³ = 1 / (2 x 2 x 2) = 1/8
CBD -> (1/2)³ = 1 / (2 x 2 x 2) = 1/8

The inbreeding = 1/8 + 1/8 = 1/4 = 0.25 = 25%

 

If the common ancestor, i.e. where the path turns and goes downwards again, is inbred we have to take that into account. (For the two paths in the example above the common ancestors, A and B respectively, are underlined.) Calculate the inbreeding coefficient for the inbred common ancestor by using the path coefficient method. Add 1 to this inbreeding coefficient and multiply with the contribution given by the path in question.

So if the number of individuals along a path is n, and the inbreeding coefficient for the common ancestor is F, the total contribution to the inbreeding coefficient will be (1/2)^n x (1+F).

The sum of the contributions of all the paths will then be the inbreeding coefficient.

Example 2

pathcoefficientmethod2

Example 2: Ordinary pedigree and arrow pedigree.

The existing paths are BDC, BDFEC, BEFDC, BDEC, BEDC, BEC.

The common ancestor D is inbred and the arrow pedigree for him looks like this:

pathcoefficientmethod2b

Arrow pedigree for D

The inbreeding in D is then (1/2)² = 1/4.

The contribution to the inbreeding coefficient from each path will then be:

PathnF(1/2)^n x (1+F)total
BDC 3 1/4 (1/2)³ x (1+1/4) = 1/8 x 5/4 = 5/32 = 0.15625
BDFEC 5 0 (1/2)^5 x (1+0) = 1/32 = 0.03125
BEFDC 5 0 (1/2)^5 x (1+0) = 1/32 = 0.03125
BDEC 4 0 (1/2)^4 x (1+0) = 1/16 = 0.0625
BEDC 4 0 (1/2)^4 x (1+0) = 1/16 = 0.0625
BEC 3 0 (1/2)³ x (1+0) = 1/8 = 0.125

The inbreeding = the sum of all contributions = 0.46875 = 46.875%

What happens if the effective population is too small?

One thing that happens is that the inbreeding coefficient increases for every generation. Actually, this happens for ALL populations that are not of unlimited size, but then the natural selection is probably working against more inbred individuals, so that reasonably small increases of the inbreeding are adjusted and status quo is kept. It is also known that a larger number of eggcells get fertilized than the number of offsprings that finally are born in the litters, and one theory is that these early featuses have to "fight" for their place in the uterus, and that the more homozygous featuses are less likely to survive. This theory however not been proven to be true.

What will happen, when the inbreeding coefficient is increased generation by generation? In the beginning, not much at all. It isn't until the degree of homozygosity reaches a certain critical level that the real problems show up, and then it is usually much more difficult to take corrective action. It is much better to start working against these problems before the symptoms show up. The pedagogic problem then of course is that those who begin to breed with too few individuals won't immediately see the problems that it will cause. They think "I have bred in this way for many years, and I have not had any problems". But as we can see, "trial and error" is not a very good approach here! When "error" appears it is a bit late to adjust in an easy way.

Why then is inbreeding so dangerous? One thing - that every educated breeder knows about - is that it means an increased risk of doubling up on harmful or lethal recessive genes. The double set of chromosomes otherwise protects us from this risk, to a great extent in a population that is not too inbred. All individuals carry a few harmful recessive genes. Some people think that the inbreeding clears out the harmful recessives and leads to a healthier breed for the future. But first, the inbreeding doesn't clear out anything in itself, it has to be combined with a strong selection in order to clear out any undesirable genes. Second, you have to inbreed incredibly strongly in order to get all or almost all loci homozygous, so that you can see what the cats are carrying and weed out all the undesirable genes. Mate a female with her full brother, and 25% of all loci are homozygous. Then mate two of these offsprings with eachother, and 37.5% of their loci are homozygous. And then we take two of THOSE offsprings and mate them with each other! Now the inbreeding is so strong that most breeders would back away. But still "only" 50% of the loci are homozygous. So in spite of this drastic inbreeding, we will miss out on exposing other recessive, potentially harmful genes.

But let us assume that we go all the way with this! We breed a line towards 100% homozygosity, selecting strongly against harmful genes all the way. All individuals will then have exactly the same genotype, except for the fact that the males must have a Y chromosome where the females have a second X chromosome.

OK, it took a lot of effort and money to make this so called isogene line, and many cats died on the way. But if we now finally have reached to this point, then we have a line that is 100% healthy from a genetic point of view! Yippeeee!!!

It is possible, this can be done, if you are careful not to let the level of homozygosity increase more quickly than you manage to weed out the bad genes. This has been done with mice that are to be used for scientific tests. It works very well! But... they only manage to get about one line out of twenty to survive. The other 19 lines are dying in the process. Maybe better not to take that chance?

Also, the immune system is not very good in homozygous individuals. The immune system works much better if the loci involved are heterozygous, since this gives the individual the possibility to develop more DIFFERENT kinds of antibodies, not just lots of antibodies of the SAME kind. This is not a major problem in laboratory mice, since their environment is quite protected from (undesired) contagious diseases, and since it isn't exactly considered to be a tragedy, unfortunately, if a laboratory mouse dies. If on the other hand a much loved pet cat and family member dies it is indeed very sad. Hmmm... Perhaps not such a good idea after all?!

On top of that mutations happen spontaniously and would with time destroy our fine genotype. You have to count on one or two new mutations in every individual.

I think we had better change our strategy!

But what if the breed is already inbred?

If a breed or a population is already so inbred that clear signs of inbreeding depression have shown up, for instance a high rate of early cancer or infections, what to do then?

If there are unrelated lines in other countries, of course the best solution would be to increase the exchange of cats between those countries. If such unrelated lines are not available, we will have to outcross to another breed or unregistered cats that fit the standard reasonably well. If enough new genes are mixed into the population, the inbreeding problem will be solved.

A not uncommon objection against these kinds of solutions is that we don't know which new harmful recessives might be introduced into our breed through these outcrosses. That is true, we don't know. What we do know though is that most individuals carry some harmful recessive genes. Many breeders also think that it is better to have a more inbred population less different kinds of genetic diseases, in order to more easily keep them under control. Maybe there are even tests available for those deseases. But, as we will see below, it is better to have lower frequencies of several different harmful recessives than to have a higher frequency of one single recessive.

Assume that we have a population A with a gene frequency of 50% for some kind of recessive defect. We will compare it to a population B with gene frequencies of 10% for five different recessive defects. Both populations will then have the same frequency of harmful genes, but population A has defect genes of only one kind (easy to keep under control) while population B has its defect genes divided in five different kinds.

The risk for a kitten in population A to show the genetic disease is then 0.50 x 0.50 = 0.25 = 25%.

The risk for a kitten to show a genetic disease in population B is 5 x (0.10 x 0.10) = 0.05 = 5%.

This shows that we get considerably less defective kittens in a population which has lower frequencies for several different kinds of diseases. The most effective way to keep a breed healthy is not to try to eliminate the harmful recessives, but to get the frequency down to a such a low level that two harmful recessives of the same kind almost never meet.

Some breeders will hesitate to outcross because they are afraid that the type will be gone for ever. Some breeders are of the opinion that inbreeding (linebreeding) is the only way to get excellent and uniform type. It is true that by using inbreeding you can achieve quicker results in this area. The problem is that you risk the long term health of the cats. It is possible to achieve the same result without inbreeding, although it takes more time. Unfortunately inbreeding is a very tempting shortcut for breeders that are interested in showing their cats. But one should keep in mind that most of the genes that are doubled up by inbreeding have absolutely nothing to do with type. For instance, a human has approximately 30 000 genes, and 98,5% of those are identical with those of a chimpanzee! And still, aren't we rather different from a chimpanzee? How large a part of the genes could different between a Siamese and a Persian? Or a Norwegian Forestcat and a Maine Coon? Or between a Burmese of good type and a Burmese look alike moggie with reasonably good type? Not more than what we can fix with some generations of selective breeding, I'm quite sure about that!

Genetic problems are showing up in the breeds!

Yes, that is also due to a too small effective population! Unless it is due to a breeding without regard to the anatomic functions of the animal. Breeding for extremely long bodies might cause problems with the back, and breeding for very short faces might give problems with the teeth, breeding for extremely triangular, square, round, etc. heads might cause problems with jaws, eyes, brain, or whatever. A cat must be allowed to first and foremost be a CAT. It is not a piece of clay that we can shape after our own estetic ideals. A cat doesn't consist of circles, triangles, squares, or other geometric figures, we have to remember that. Maybe we should breed all cats with the coats of a poodle, so that we could CUT out the geometric shapes and odd angles that we find attractive. Then the cats could have their anatomy in peace. No, even if the standard says that a head should be triangular or square, we as breeders must resist to go to extremes. It should be the head of a cat - not a geometric figure.

Except for this breeding for extremes, it is the too small effective populations that cause the high frequencies of many genetic diseases to show up in breeds. Many breeders seem to be a bit confused about this. They might think that if we have for instance 10% of the cats in a breed affected by PRA, meaning a gene frequency of approximately 32% for the recessive PRA gene, and if we don't test and work to reduce this frequency, then the frequency will automaticly increase with time. This is of course not correct. If it were, then also the frequency of diluted (blue, cream, etc.) cats would increase all the time unless we selected against the dilution gene. If the effective population is big enough, and no selection for or against PRA is made, then the gene frequency will stay at 32%.

On the other hand if we select ever so weakly against PRA, for instance let the cats who themselves have PRA (homozygots) have no more than one litter, then the gene frequency will decrease. Slowly with a weak selection, more quickly with a strong selection.

But then what happens if the effective population is too small? What will then happen with the gene frequency? It will be the same effect as if you toss up a coin 10 times. Your chance for heads is 50% every time. And if you had tossed up this coin 1000 times, you would have got quite close to 50% heads and 50% tails. But now you only toss it 10 times. Then it is not very surprising if you by chance got 70% heads and 30% tails, or 30% heads and 70% tails, or something like that.

In the analogous scenario in a small cat population, it means that the gene frequency of around 30% in the next generation might have increased to 35%, because of this random effect. Or else it might have decreased to 25%, because of the same random effect, which in the PRA case would of course be a lot nicer. But let's be pessimistic and assume that the frequency increased to 35%. Then the EXPECTED value of the gene frequency for the next generation is also 35%. But by chance it might end up at 29%, 34%, 38%, 42%, or whatever. The smaller the effective population is the larger the risk is of getting a large deviation from the expected value of the gene frequency. Then this frequency, that we got randomly, will be the expected value for the next generation. This phenomenon is called random drift. If the impact of this random drift gets stronger than the impact of the selection - natural or artificial - then the changes of the gene frequency could very well be the opposite to what we wanted. DESPITE the selection. Then the eyes might get paler in our Siameses, or the lynx tufts might get smaller in our Norwegian Forestcats, or PKD might get more common in our Persians. That would of course be anything but funny!

If we now look into why PKD became a far too common problem in the Persians, it could hardly be caused by some mysterious selection in favour of lumpy kidneys. It must have another cause.

It must of course have started with a mutation in a cat long ago. It was a dominant gene, so the cat developed cycts on its kidneys. Let us assume that it was a male that died from the PKD at 5 years of age. Or perhaps at 7-8 years of age. Either way, we have a certain selection against the gene. If the population is then large enough, the frequency will then decrease and eventually go down to 0%. And even if there were no selection against the gene what so ever, there would be a good chance for the gene to disappear within a few generations, since the frequency could by chance be slightly larger or slightly smaller. And since the frequency was initially very small (one mutated gene in a large population), it is rather likely that the frequency by chance happened to decrease to 0%, and then the gene is gone.

So, the effective population for the Persians apparently was not large enough. Random drift resulted, and by chance this unfortunately caused an increase of the frequency of the PKD gene. In spite of a certain amount of selection against the gene, the result was that the frequency ended up at approximately 25-30% before more breeders became aware of the problem and a stronger selection was introduced.

What does all this tell us? That if we don't have large enough effective populations, then high frequencies of unpleasant genetic problems will continue to pop up. If we are unlucky we might also have difficulties attempting to reduce these problems with selection.

If we instead make sure that we have large enough effective populations in our breeds, genetic diseases will not pop up as a common problem in the entire population. And as a bonus we avoid inbreeding depressions and bad immune systems.

To breed with too small effective populations, and at the same time start projects to fight against genetic diseases within a breed, is just like being treated for lung cancer and continue smoking. Or to scoop out and wipe away the water that have poured over the rim of the bath-tub, while we still haven't remembered to close the tap, so the water is still pouring INTO the tub.

To work for large enough genepools is a kind of preventive medicine measures for the breeds. It doesn't seem clever just to treat the ailments, without bothering about the preventive measures that could prevent the ailments to arise in the first place.

We should also keep this need for reasonably large effective populations in mind when we create and accept one spotted shorthaired cat breed after the other, and one large furry semilonghair breed of medium head-type after the other, etc. Unless the number of breeders willing to work with spotted shorthaired breeds is increased at the same rate as the increase of the number of breeds, the reqruitment of for instance Bengal breeders - just an example - will be at the expense of the Ocicats', Spotted Oriental Shorthairs', Egyptian Maus', etc. possibilities to keep a constant and large enough number of animals for breeding in their breeding programs. Can these breeds afford this? Will the new breed be able to create a place for itself among all these other breeds? Or perhaps they will all get too small populations, so that we in the end have destroyed all the spotted shorthair breeds? These are important things for us in the cat organisations to think about. These threats are real, not just "in theory", and we have already begun to see the first effects, although not yet as badly as in the dog breeds. However, now we have the chance to avoid getting into as bad problems as the dog breeders! We can learn from their mistakes and change into a healthier way of breeding, or we can continue as before and end up in problems.

So this is something that we have to start working with. It must not be forgotten among all the specific projects against specific diseases. It is about the actual basis for the health of the cats and breeds.

How do we fight already existing health problems?

Problems in single cats

If a cat is diagnosed with a defect or a disease, which might be hereditary or not, how does one act? One basic rule is to not breed with that cat, but to continue with its relatives as usual. If the same problem pops up again it can be wise to take further action.

If it is a disease KNOWN to be inherited, the actions might look a little bit different depending on how it is inherited. Here are some suggestions in how to handle the problem in some different ways. Please note that this is general recommendations. In specific cases there might be a reason to adjust the actions somewhat.

  • If the disease is caused by a dominant gene, one has to try and find out which one of the parents carrying it, and if other relatives also might be carrying it. And those who have the disease should not be taken into breeding.
  • If the disease is caused by a recessive gene one doesn't of course breed on the sick animal and the parents should also be taken out of breeding, since one knows for sure that they both must be carrying the gene. Possible siblings to the sick kitten shouldn't be sold for breeding, if they are not already sold.
  • If the disease is of polygenetic inheritance one should not breed on the sick cat and one shouldn't repeat the same combination that resulted in the afflicted kitten. Be especially observant on littermates and other close relatives, but do not as a rule take them out of breeding, unless they show any signs of problem themselves. If a cat seems to give a high frequency of afflicted cats, even though he/she doesn't have any problems, this cat must of course be taken out of breeding.

Problems in the breed

  • Gather all information about the disease! At what age can one see the first signs in an affected cat? How does it manifest itself in the cats? Is it serious? Is there any cure?
  • Maybe one can see how it is inherited? Is it a dominant gene, a single recessive gene, sex-linked inheritance, polygenetic?
  • Are there ways of testing the cats for the disease, in order to get a quick answer to who is carrying the gene/genes?
  • Try and find out approximately what percentage of the population that is affected!

If it is a serious disease, that will affect quite a lot of cats among the breed, it might be useful to make a special health program in order to cope with the problem. How one organizes the health program depends somewhat on the answers to the above mentioned questions. The most important part in all health programs is to spread information. One has to spread information of the symptoms of the disease, development, inheritance, and possible tests available. This can be done through club magazines, brochures, web sites, meetings in breed associations and seminars. Quite often there is resentment among breeders to deal with, or even admit, health problems existing within the breed. This is not often because the breeders don't care if the cats get sick or not, but is often due to fear of the unknown and lack of knowledge. If one doesn't know how to deal with the problems it feels awkward to talk about them. Many are afraid of other breeders' panic reactions, that others will demand whole breeding lines to be neutered if a case of the disease is known. Unfortunately such a fear is not always irrelevant. Due to the same lack of knowledge there are incidents when breeders want to take drastic actions in order to quickly solve the problem within the breed. It is as crazy as putting your head in the sand and pretending there are no problems. There are only two types of panic reaction. And none of them will benefit the cats, of course. The measures taken must be reasonable and in proportion to the difficulty of the problem. Under no circumstances should one select so hard that more than 1/3 of the cats in the population are taken out of breeding due to one and the same health problem. If one takes too drastic measurements the whole breeding population might be too small, and this might cause problems with MORE genetic diseases in the population just because of the diminished breeding population. And this was exactly what we did not want to bring about!

Hence, the foundation of a health program is information, information and yet again information!

Then it might be also be cause for registering cases of disease and possible test results. If one decides to do this, one should also consider the register to be open for all people to take part of the results. This has been a conclusive factor in order for a health program to give good results. Lack of openness will only cause gossip and speculations, while facts will effectively end all discussions of that type. And then all the energy might be put into doing something useful about the problem.

Conclusion

  • Healthy cats: Only breed on healthy cats!
  • Effective population: Make sure you have a big enough effective population! The inbreeding coefficient on 5 generations should be maximum 2.5% in average on all the matings done. Maximum approximately 5% on 10 generations.
  • Inbreeding: Don't make individual matings between cats that are related more closely than cousins (maximum approximately 6.25% on 4-5 generations)!
  • Openness: be open about eventual problems in contact with other breeders. It will be helpful to all in the long end!
  • No panic: Avoid both hiding your head in the sand and demanding a too severe selection against possible health problems!

 

Observations of Feline Polydactyly

By Sheila L Curtis, Indys, & Lucinda King BA (Hons), Handaros. 17th January 2007.
(Reprinted with permission)

Cats usually have eighteen digits, 5 on each foot and 4 on the hind feet. Polydactyl (also referred to as hyper-dactyl) cats have extra digits on their feet. Polydactyly is the presence of more than the usual number of digits. It derives from the Greek 'poly' meaning 'many' and 'dactyl' meaning 'digit'. Accounts of polydactyly are mentioned as far back as the writings of Darwin, so there would appear to be nothing extraordinary about it. According to veterinarian Arnold Plotnick the first scientific recording of polydactyly in the cat was 1868. [1] However Darwin discusses it in the 1850's "I have heard of several families of six-toed cats, in one of which the peculiarity had been transmitted for at least three generations.[2] Polydactyly occurs in several species of animals: humans, cats, dogs, guinea pigs, fowl etc. It is important to note that each species has it's own unique characteristics and different modes of inheritance. Polydactyly in the cat is most similar to that seen in the fowl, with exception of the mirror imaging seen in the latter. (Danforth 1947) "The polydactyl trait probably arose as a spontaneous mutation, and a polydactyly kitten from two normal-toed parents may represent a new mutation event". [3]

There are two particular breeds that can claim historical reference to polydactylism; the Pixie bob, which was founded on a polydactyl cat and the Maine Coon. There have been reports that this trait once accounted for 40% of the Maine Coon breed, but there is no specific data to substantiate these figures. Accounts of polydactyly in the Maine Coon cat are documented as far back as 1876, when an MCBFA member discovered a painting depicting the trait. [4] In recent years there appears to be a rise in the number of breeders working with the polydactyl trait and MCPI, an International organisation has been formed to promote and protect the trait in the Maine Coon.

There are two forms of polydactyly referred to by embryologists, pre-axial and postaxial. To differentiate between the two if one remembers that pre-axial is on the inside edge of the paw, (or in the human, thumb side) and post-axial at the outside edge (or little finger side in the human). The post-axial form is rare and extra digits found post-axial are unlikely to be fully formed digits, whereas those located pre-axial are invariably fully formed. As noted in Robinson's [5] the polydactyl gene is denoted as Pd. Sis & Getty (1968) [6] report that the characteristic is inherited as an autosomal single dominant trait, the probable effect of which is to incite some change in the pre-axial (ie medial) part of the limb causing an excess of growth in that area. Jezyk, goes on to state ""There is no apparent clinical significance to these conditions, other than an increased propensity for traumatic injury of the partial supernumerary digits". However, "Polydactyly is also a feature of several more serious syndromes". (PF Jezyk [7]) As polydactyly is sometimes seen accompanying other unwanted genes and disorders it adds to some confusion. For example some authors discuss more than one form of the Pd gene and include in this other dysostoses such as Syndactyly, which is a condition that causes a split foot with it's causal gene being Sp. There are other forms of polydactyly caused by environmental matters (i.e. pollution), or rare genetic disorders such as Ellis-van Creveld syndrome. These are commonly accompanied by other symptoms and this is an entirely different issue and is not associated with the Pd gene. (See Appendix for further discussion).

According to geneticist and TICA Genetics Committee Chair Dr Solveig Pflueger "most polydactyl cats... have a form of pre-axial polydactyly with the extra digits(s) on the thumb side of the foot... " The Pd gene causes the entirely harmless form of polydactyl.

Clinical Study

One of the problems with researching feline polydactyly, is that there is a general dearth of scientific research and much of the writing is not correctly referenced and therefore unsubstantiated. There are very few scientific studies into polydactylism and those that have been undertaken are quite old. However, they are worth reviewing, whilst bearing in mind that as far as is known the cats studied were DSH and DLH and not pedigree cats. The writers were only able to locate three scientific studies specific to polydactyly in felines: Heredity of Polydactylism by CH Danforth (1947) [8], Morphology of the Feet in Polydactyl Cats by Ch Danforth (1947) [9] & The Anatomy of Polydactylism in cats with Observations on Genetic Control by Chapman & Zeiner (1961) [10]. For ease of reading, Danforth's Heredity of Polydactylism shall be referred to as Danforth 1 and Danforth's Morphology of the Feet in Polydactyl Cats as Danforth 2. For the purposes of his research Danforth defines normal as: "conditions found in the great majority of ordinary cats."

With the exception of one cat that produced at different times 2 kittens with herniasand one with a degree of ataxia, no other abnormalities were noted in any combination of matings in any of the scientific studies evaluated. Considering the degree of inbreeding concerned this is somewhat remarkable.

Further complex genetic study & explanation is required to fully understand expressivities of the Pd gene. Dr Lyons at UC Davies is currently calling for DNA samples of polydactyl Maine Coons, to help identify the presence of the Pd gene. In most cases it is fairly obvious if a cat has this Pd gene. However any further scientific information may aid better understanding.

Heredity

In the mouse it has been found that polydactyly is caused by a mutation in the Gli3 gene and it is this gene that is thought to be associated with pre-axial polydactyly. The mutation causes repression of the Shh gene (or Sonic Hedgehog). Whether this holds true for the cat is as yet undiscovered.

In humans recessive polydactyly is possible, however Danforth & Chapman rule out this possibility in the cat and prove in their research that the form of polydactyly in the cat is a simple incomplete dominant gene with variable expression.

For his first study Danforth looked into the heredity of polydactyly and used controlled and uncontrolled data from a male and female cat he had found living 85 miles apart. Additionally he used data from cats belonging to friends. In total Danforth bred 234 kittens in 55 litters, averaging 4.24 per litter, undertaking poly x poly matings, poly x non-poly matings & non-poly x non-poly matings. The biggest percentage expression (28%) was that of 6, 6, 5, 5, (ie 6 toes right fore foot, 6 toes left fore foot, 5 toes right hind & 5 toes left hind) though we do not know from what combination of matings these expressions were initiated. He sexed only 100 kittens at birth, of those 52 were male and 48 female, unfortunately he fails to sex the remaining 134 kittens. Danforth analysed the feet of 97 polydactyl cats and discovered 25 different expressions of polydactyly. (See Table 1.) [8] The expression varied from just one extra digit on one front foot (5, 6, 4, 4) to two on the front, and two on the right posterior to one on the left (7, 7, 6, 5) Sadly he does not correlate between number of toes and parental polydactylism, so we do not know from this study whether or not number of toes on both parents affects number of toes on the offspring. However, he does suggest that there is "little correlation between grades of expression and offspring".

Danforth concludes: "The evidence thus far accumulated indicates that in the cat polydactyly is conditioned by a single dominant gene whose probable chief effect is to incite some changes in the pre-axial part of the limb bud causing an excess of growth in that region. From this excess tissue, enlarged supernumerary digits are developed, none of which in itself has a genetic individuality. The trait is not related to sex, and no evidence is found that its gene is lethal when homozygous."

It would appear that polydactyly is a simple autosomal dominant trait with variable expression and a cat needs only one copy of the gene to express it. However Danforth found that even when breeding poly x poly only 76.23% of the offspring expressed the trait to some degree. When breeding poly x non-poly almost one third (32.5%) of the offspring were polydactyl. Danforth surmised from his results that only three of the cats used were homozygous for the trait, therefore, even when bred to a non-poly 100% of the offspring was polydactyl. The only way of knowing whether the cat is heterozygous or homozygous for the trait would be through test breeding, though the chances of homozygity would likely be increased where the offspring results from two polydactyl parents. The heterozygous cat would carry the Pd & the pd gene therefore in these cats the trait cannot be fixed and this is true even when breeding two polydactyl cats together assuming they were both heterozygous. (Plotnick [1].)

Polydactyl1

Image 1. Danforth Average Litter Size.

Morphology

Danforth's second study looked at the morphology of the polydactyl cat. [9] This study investigates the embryological changes, which occur in-utero. Data was collected from 150 cats via embryological material and the feet. All cases studied were of the pre-axial form. He noted that evidence of polydactyly could be ascertained from day twenty of intrauterine life, which is marked by excess development on the "cephalic margins of anterior limb buds."

In later stages of intrauterine growth the excess materials develop into an extra digit(s). The formation of the extra digits include the same veins, muscles, bones etc of the other digits, with the exception of the radial sesamoid, which Danforth states is "rarely, if ever present" in polydactyl cats. Interestingly it is the radial sesamoid which is responsible for the opposable thumb found in the Panda. (Salesa et al 1995) The following statement by Danforth did give the authors cause for concern: "But when there are 6 metatarsals, all the carpals except the pisiform may be affected to some extent, the affect being chiefly that of flattening the wrist and slightly displacing bones on the ulnar side with resultant minor changes in their articular surfaces. In such cases the triquetral and hamate may be rotated somewhat ulnaward, and the capitate may be much reduced in size." However, according to diagnostic radiographer Kevin King BSC, SoR, CoR, IRR, it is possible that these changes occur to allow for full functionality of the foot. Whilst not a veterinarian he does suggest that X-rays of the feet may be a good idea to ensure any possible rotation is not too great. Although, according to Solveig Pflueger this is only a concern where there is a presence of a triphalangeal pollex (see below).

Danforth goes even further, to say: "The only difference between potentially polydactyl and normal specimens is in the amount of undifferentiated tissue on the pre-axial border of the limb".

Chapman and Zeiner also studied polydactyl cats. Observing thirty-one cats and noting eight expressions, three variations of the fore feet and five of the hind feet. They dissected the fore and hind legs in one cat of each type to study the anatomy of each. Contrary to the work of Danforth they do note the existence of the radial sesamoid. This suggests that the form of polydactyly observed differed to that of Danforth. However, similar to the observations of Danforth they observed that the phenotype of the sire did not breed true. This supports the theory that polydactyly is an incomplete dominant gene with variable expressivities. Nothing remarkable is noted in the paper and conclusions concerning morphology are akin to that of Danforth's. That is that predominantly each extra digit is properly formed and anatomical formation is complete. For example Chapman & Zeiner, "The paws in all cases possessed normal functionability and sensory reactions... branching of the terminal nerves correspond with the digital duplications... where digits were duplicated corresponding phalangeal pads were present, in some instances extra palm or sole pads were found." This is confirmed by the observations of Sis & Getty.

polydactyl2

Image 2. (Image reproduced and copyrighted to
Morphology of the feet in polydactyl cats by C.H. Danforth)

Polydactyly presents with variable expression. Danforth noted suggestions of mirror imaging but only very secondary. As mentioned cats have the pre-axial form of polydactyly, this means the extra digits are produced on the thumb side of the foot. The extra digits can take the form of either toes or extra dewclaws. (See Image 3.) Since this trait presents with variable expression it is possible to have a different foot configuration on all four feet. However, Chapman & Zeiner observed the following: "It was found that, although several types of polydactylism could be described, one duplication was common to all types. This involved skeleton, musculature, and innervation of the second digit and was the type present in the male who fathered all of the litters". They go on to note: "Crosses were made using a polydactylous male, two females of differing polydactylous types, and a normal female. The basic pattern of the male persisted in all polydactylous offspring, but additional variables were added to it. It became obvious that polydactyl is not caused by a recessive gene in cats. Although simple dominance serves to explain the general trait, a more complex genetic explanation is needed to account for the several varieties of polydactyly".​

      Table 1:Statistics on variation in the feet of 97polydactyl cats with full records.​
 Gross variation in expression   
  Anterior  Posterior    Number of
Right   Left Right  Left    cases 
 *5 1  
 *T 9  
 T 3  
 T T 1  
T T 5 4 2
T T 5 6 1
T 6 4 4 2
T 6 5 5 3
6 T 4 4 1
6 T 5 5 1
6 T 6 6 1
6 6 4 4 8
6 6 4 5 1
6 6 5 5 27
6 6 5 6 1
6 6 6 6 12
6 7 5 5 5
6 7 6 6 3
7 T 5 5 2
7 6 4 4 1
7 6 5 5 3
7 6 6 6 1
7 7 4 5 1
7 7 5 5 6
7 7 6 5 1
Total  97 
*Note: The first entry had three normal feet but six digits on the left anterior. T ("Thumb") means only 5 digits, but with the radial one enlarged.     

 

1. Fore Feet.

The following illustrates the formations commonly seen by Danforth.

polydactyl3

Image 4 [11] shows the X-rays provided by Danforth in his study. Type A is a non polydactyl, the others all exhibit polydactylism. These X-rays along with those of the hind feet below serve as good examples of variable expression.

Interestingly B & C are from the same animal, which substantiates the evidence that polydactyly has variable expression. Example C is the form most often found in the Maine Coon & Pixie Bob polydactyl, often referred to as the mitten paw.

Each extra toe will also have it's own terminal pad (fingertip), and usually additional palmar and plantar pads.

polydactyl4

Image 4. (Image reproduced and copyrighted to
Morphology of the feet in polydactyl cats by C.H. Danforth)

There appear to be two types of physical presentation in polydactyl cats. One is known as mitten paws and the other as patty feet or snowshoe. Danforth & Chapman observed examples of both in their studies. Both the Pixie Bob and the Maine Coon generally display the mitten paw. To illustrate the differences both the kittens in the Images 5 & 6 have supernumerary digits on the medial side of the foot, however one is an example of the more common mitten paw and the other the less common snowshoe.

polydactyl5   polydactyl6
Image 5. Polydactyl kitten displaying the mitten paw.
(Photo credit: Sheila Curtis)
Image 6. Polydactyl kitten displaying the patty foot.
(Photo credit: Sheila Curtis)

 

Interestingly in his study Morphology of the Feet in Polydactyl Cats, Danforth notes that in the case of a 6 toed hind foot that it generally appears more symmetrical than a 6 or 7 toed fore paw. He also didn't encounter any case in his study where there were more than 6 digits on the hind foot. He also notes "Early development of the posterior limbs lags somewhat behind that of the anterior, but the process are roughly similar".

The X-ray images of the hind feet taken by Danforth in Image 7 below, illustrate from left to right, a non-poly hind foot, a foot showing a faint dewclaw (see to right of metatarsals), a polydactyl hind foot with one extra digit, and a polydactyl foot with two extra digits.

Images 8 & 9 allow for comparison and illustration of the skeleton of both the non-poly and polydactyl foot. These images have been reproduced from the Sis & Getty article and the polydactyl foot observed is clearly that of the pre-axial form. A structure they note that they have exclusively observed in the cat.

polydactyl7

Image 7. (Image reproduced and copyrighted to
Morphology of the feet in polydactyl cats by C.H. Danforth)

polydactyl8

Image 8.
(Image reproduced and copyrighted to Polydactylism in Cats by R.F. Sis & R. Getty)

polydactyl9

Image 9.
(Image reproduced and copyrighted to Polydactylism in Cats by R.F. Sis & R. Getty)

Chapman and Zeiner conclude, "Although simple dominance serves to explain the general trait, a more complex genetic explanation is needed to account for the several varieties of polydactyly."

Radial Deformaties

In the 1990's a breeder in the US was breeding cats with such badly deformed limbs that their legs were twisted so as to disable them. The breeder was not breeding specifically for the polydactyl trait but for a cat "that would be less likely to run away and become wild". These cats have been commonly termed 'twisty cats' and it seems that a severe form of radial hemimelia was at play. Hemimelia is a developmental abnormality characterised by an absence of all or part of the distal half of the limb. This condition is also referred to as radial hypoplasia/aplasia though more commonly in humans. (Radial hypoplasia simply means an underdevelopment of the radius and aplasia an absence of the radius and this can vary in degree from a minor shortening of the radius to an absent radius.) The abnormality causing these conditions is different to the polydactyl gene and is thought to occur from a "lack of AER-mesodermal interaction during limb outgrowth." (Towle & Breur, 2004). [11] According to Towle & Breur the most common form of hemimelia in cats is preaxial longitudinal intercalary radial hemimelia. (2004) They further state that "radial hemimelia in Siamese and domestic shorthair cats may be a hereditary trait, but there is no such evidence in dogs." However Jezyk argues, "Without further evidence to support the claim, the inherited nature of these abnormalities is dubious."

In her paper, "Polydactyly and Related Traits", Solveig Pflueger [12] discusses a form of polydactyly manifesting in the triphalangeal pollex (simply three-boned thumb). This type gives the appearance akin to that of the human digit. It is this variety that she believes is responsible for the defective radius linked to the Twisty cat. Pflueger has personal experience of triphalangeal cats producing offspring with radial dysostoses. She therefore, recommends that cats with the triphalangeal pollex be avoided as foundation cats. However, whether or not feline polydactyly is linked to defects of the radius is unsubstantiated since there is no basis for it found in the scientific research to date. The fact that these cats produced radial dysostoses may be mere coincidence rather than any genetic link, particularly since these defects are found in the non-polydactyl cat.

Incidence of radial dysostoses is uncommon (Winterbrotham et al.,1985 [13], Towle & Breur, 2004). A study conducted by King (2004) [14] would lend weight to this. King conducted a crude analysis of UK Maine Coon pedigrees located on breeder websites, this showed that 63% of UK breeders owned at least one dam, who despite being a non polydactyl had polydactyl cats within the first 5 generations of their pedigrees. Were radial deformities closely aligned to polydactyly then reported incidence would be expected to be high.
Dr Pflueger MD (Director of medical genetics at the Baystate Medical Centre in Springfield, Massachusetts and chair of the TICA genetics committee), states that: "The gene that eliminates or produces a poorly developed radius has nothing to do with the normal form of polydactyly". However, since it is known that Pflueger and at least one other have seen radial deformities in their offspring it can be argued that there is a hereditary link as suggested by Towle & Breur. Therefore, extra vigilance is necessary when breeding from cats with no known history but this would appear to be sound advice whether or not the cat is a polydactyl. Though since Pflueger observes this only in cats with triphalangeal thumbs extra care should be taken and perhaps these cats should not be used at all where there is no known history. Further whilst researching for this article the authors had one confidential report of radial deformities resulting from breeding with a cat with triphalangeal pollex and this concerned a foundation cat, which was immediately neutered along with its offspring. Therefore the defect cannot now be perpetuated.

polydactyl10

Image 10. Pre-axial complete intercalary radial
hemimelia. (X-ray copyright to Towle & Breur.)

Breeding & breeders experiences

There are reports on the Internet that suggest that poly x poly matings should not take place, but we could find no scientific evidence to substantiate this claim. However, until more is known it may be pertinent to only undertake poly x non-poly matings in order to track the gene responsible. That way should a problem ever arise it is known what line the problem arose in. Additionally, Danforth & Chapman both undertook poly x poly matings for the purpose of their research and reported no problems. The gene still behaved with variable expression even with these matings and when breeding related cats.

As discussed above it is vitally important when introducing new bloodlines into the gene pool that breeders do not unwittingly introduce any radial deformity. Foundation breeders need to be diligent when selecting cats, especially those with the triphalangeal thumbs. It would be pertinent to perform X-rays on polydactyl cats with no known history. It would also be wise to X-ray any non poly kittens from a poly litter that are to be sold as breeding cats.

To date the only polydactyl breed accepted for show status is the Pixie Bob. [15] The TICA Genetics Committee deemed the gene harmless, with the Committee Chair Solveig Pflueger a geneticist having bred polydactyl's herself. Were there any indication that this gene were harmful then it would not have passed the stringent tests required for competition. In the 1990's TICA accepted the Pixie Bob, some of whom are polydactyl. To advance a new breed or new trait within TICA a full report must be submitted to the Genetics Committee. These reports are seriously scrutinised and debated upon. The Genetics Committee allowed the polydactyl in the PB standard, which reads:

"Feet: Large, long and wide, almost round, with big knuckles and fleshy toes. Polydactyl allowed, seven toes maximum. Leg and wrist must be straight when viewed from the front. All toes must rest on the floor pointing forward. Foot must appear sound."

polydactyl11

Image 11.
(Photo credit: Sheila Curtis)

From talks with Maine Coon polydactyl breeders it would appear that there is more than one foot type. One which resembles the human hand and called the mitten paw or snowshoe by breeders and the other which is more a combination of toes and often has an absent dew claw (see discussion above). Both types have been bred from with no known reported problems. The kitten in image 11 does not have a dew claw but her mother does, and neither the mother or kitten have the triphalangeal pollex and according to Pflueger should therefore be safe to breed from, should the breeder wish to. Though it is probably pertinent to X-ray this foot since radial deformities are variably expressed.
Whilst talking to breeders we encountered a breeder who had purchased a non-poly Maine Coon the offspring of a poly Sire and a non-poly Dam. When bred the cat sired some polydactyl kittens yet the breeder could see no evidence of an extra digit. It would seem possible here that the cat may have had a small nub that had not been observed by breeder or owner. It is then sensible when purchasing a kitten from a poly mating to pay attention to the feet if a non-poly is desired and may be prudent to have the feet X-rayed. PawPeds have been tracking polydactyl cats for some time now and denote a poly parent with the symbol (P) in the database. As early as 1970 the Maine Coon Breeders and Fanciers Association, [4] were considering "the possibility of requesting registering organisations to include the letter P with the registration numbers on all poly cats. At the present time there is no way of tracing polydactylism by looking at a pedigree. This would be a boon to breeders, but will take some study."

 

Conclusions

It would seem that the link with polydactylism and radial dysostoses occurred following the publicity that surrounded the breeding of the so-called 'twisty cats'. There appears to be no scientific data to substantiate any such direct link and it would appear mere coincidence that the cats used in this instance were polydactyls. In their paper Dysostoses of the Canine and Feline Appendicular Skeleton (2004), Towle and Breur remark that "dysostoses such as polydactyly only have cosmetic consequences that may interfere with competitive show exhibits". They go on to discuss the ethical dilemma a veterinarian may face should a client request the removal of the extra digit(s) so that the cat may compete on the show circuit without facing disqualification. This type of surgery is deemed by the American Veterinary Medical Association as cosmetic surgery and as such unethical.

From scientific study it may be concluded that the Pd gene causing polydactyly is a harmless dominant trait with variable expression. Since it is known to be of variable expression offspring may not display the same toe or foot configuration as it's polydactyl parent(s) and each poly kitten in the litter may display a differing configuration. Generally, "Polydactyly is of no clinical importance". (Towle & Breur) However, it is broadly recommended to maintain frequent nail trimming. All bones, nerves, musculature are well served to the extra digit and there has been nothing extraordinary discovered in the scientific research.

Appendix

Ataxia ~ Wobbliness. Incoordination and unsteadiness due to the brain's failure to regulate the body's posture and regulate the strength and direction of limb movements.
Carpals ~ One of the wrist bones. There are eight carpal bones that are arranged in two rows.
Cephalic ~ Relating to the head or the head end of the body.
Didactyly ~ The condition of having two digits on each limb.
Distal half ~ The more or furthest.
Dysostoses ~ The defective formation of bone.
Ectrodactyly ~ A condition which causes the fusing together of most of the digits on from mild to severe.
Hemimelia ~ A congenital complete or partial absence of 1 or more bones.
Hypodactyly ~ A condition where too few digits are expressed ie only 3 fingers and 1 known as the split foot and is caused by the Sp gene.
Metatarsals ~ Bones from heel to toe the bit in the middle Five cylindrical bones extending from the heel (the tarsus) to the toes. The metatarsals are numbered from the inside out, so the first metatarsal extends to the big toe.
Monodactyly ~ The condition of having one digit on each limb.
Palmar Pad ~ The palm-pad of the paw.
Pentadactyly ~ The condition of having 5 digits on each limb. Humans are generally pendactyls.
Phalangeal Pad ~ The pad relating to a bone in the finger or toe.
Pisiform ~ One of the carpal wrist bones.
Plantar Pad ~ The heel pad of the paw.
Pollex ~ (plural: pollices) the thumb.
Preaxial Longitudinal Intercalary Radial Hemimelia ~ A deformity causing an absence of the middle portion of the bone.
Radial ~ Pertaining to the radius, the smaller bone in the forearm.
Radial Aplasia ~ The absence of a radius.
Radial Hypoplasia ~ The underdevelopment of the radius, which may vary in degree.
Sesamoid ~ A little bone embedded in a joint capsule or tendon.
Supernumerary ~ Extra.
Syndactyly ~ A condition where two or more digits are fused togetehr. In the cat it is known as the split foot and is caused by the Sp gene.
Tetradactyly ~ The condition of having four digits on each limb ie many birds. The hand or foot. Often referred to as lobster claw syndrome due to it's appearance. Thumb in the human.
Tridactyly ~ The condition of having three digits on each limb ie the Rhiocerous.
Triphalangeal ~ Having three phalanges in a digit normally composed of only two.
Triphalangeal pollex ~ A 3 boned thumb (thumbs usually only have 2 bones).
Ulnar ~ Refers to the larger of the two long bones in the forearm. (The smaller one is the radius). The ulna is on the same side of the arm as the little finger.
Ulnaward ~ Ulna side/pointing towards ulna.

Bibliography

[1] Plotnick A. "Polydactylism (Extra Toes)".
[2] Darwin C. "The Variation of Animals and Plants Under Domestication".
[3] Commings K. "A Little Bit Extra". Catwatch February 2006 Vol 10, No 2.
[4] MCBFA Scratch Sheet, Winter 1970.
[5] Robinson R (2005). 4th Edition "Genetics for Cat Breeders and Veterinarians". Oxford, Butterworth/Heinemann.
[6] Sis RF & Getty R. (1968). "Polydactylism in Cats". Journal of Small Animal Clinicians.
[7] Jezyk PF. "Constitutional Disorders of the Skeleton in Dogs and Cats".
[8] Danforth, C.H. (1947). "Heredity of polydactyly in the cat". Journal of Heredity 38: 107-112.
[9] Danforth, C.H. (1947). "Morphology of the feet in polydactyly cats". American Journal of Anatomy 80: 143-171
[10] Chapman, V.A. & Zeiner, F.N. (1961). "The anatomy of polydactylism in cats with observations on genetic control". Anatomical Record 141: 205-217.
[11] Towle Heather A.M. DVM & Breur Gert. J. DVM PhD, DACVS "Dysostoses of the Canine and Feline Appendicular Skeleton". Vet Med Today JAVMA Vol 225, No. 11, December 1, 2004, 1685-1692.
[12] Pflueger S. (1998). "Polydactyly and Related Traits". Cat Fanciers Journal, Fall 1998, 5-6.
[13] Winterbrotham EJ et al. (1985). "Radial Agenesis in a Cat". Journal of Small Animal Practice, 393-398.
[14] King L. (2004). "So What Happened to the Maine Coon Polydactyl?". Maine Attraction, Issue 7, 2-4.
[15] The MCBFA voted in a Maine Coon Polydactyl Standard in 1970, which reads thus: "The Maine Coon Polydactyl Cat should conform to the Standard of the Maine Coon Cat, with the exception that multiple toes are allowed on either fore or hind paws, or both".

© All rights reserved. No parts of this publication may be reproduced
without express written permission from the authors.

Test Breeding new Maine Coon Foundation Lines?

By Judith Schulz, Prairiebaby cattery, Canada.

(Please note: This article can be applied to other breeds as well!)

When a breeder brings new foundation lines into the Cattery for the first time, he will most likely ask himself the following questions: What type of test breedings are the most conclusive? What about inbreeding tests? When are they necessary and where do they start to become rather useless?

Even though most people believe that incest will give us clarity about recessive genes, such test periods will, in reality, only give us very vague and incomplete information. Usually new foundation cats have a genotype that is unknown to us. Unknown genotype means we don't know if they are carriers or not. Carriers for what? We dont really know what we are looking for in a new foundation cat, right? In other words, there is no way for us to calculate how many kittens would be needed to obtain conclusive results for anything. This is when inbreeding tests come into effect. Since we cannot tell the likeliness of foundation cats for certain recessives, we might have to produce many, many inbred litters to find out more about a new line. This could very well mean close to 100 kittens or even more.

What about the ethical side of long test breeding periods? If we breed full brother and sister over several generations, we automatically make the t- and b- cells in the kittens equal to some extent. Since these cells are responsible to recognize and fight disease, the general immunity of the animal would decrease accordingly. Some old time breeders of our breed have done many inbreeding tests to find out about hidden colors or to improve type. (it should be mentioned here that the better way to find out about masking factor would have been to cross the foundation cat to a Siamese cat instead of to its brother - but thats besides the point.) Produced were often chronic snifflers with sensitive tummies that had to be kept in an almost sterile environment to stay somewhat healthy. This type of breeding experiment, if done over several generations, will likely bring to life a good number of babies that stand a good chance to die of early age cancer, have terrible gums and teeth, develop all sorts of allergies and/or become chronic URI carriers All this simply because they have a weak immune system. Did you know that schizophrenic and irritable behavior can also be a side effect of inbreeding depression? It seems to be overlooked that the new owners of our "by products" will have to pay for all the medical care, in case the test breeding period did effect the immune system of the kittens. In the midst of our projects - most times with the best intentions, I agree - we tend to forget sometimes that this is not only about pedigrees and genetics. Considering that pet homes are usually the best living environment for our babies, would this be fair towards both the owner and the little creature?

Here it should also be mentioned that embryos with heavy defects often get absorbed and are not being born. Our only evidence would then be a smaller litter size. Absorbed and stillborn kittens are very common in inbred litters. Were the "invisible" absorbed kittens the ones with the pectus? Would the two stillborn kittens in our litter have developed a kink tail at 5 months of age - who knows? -- Have we not brought in the new foundation line in order to get fresh blood into the breed -- only to end up in the same pattern that we are actually trying to get away from? It should also be mentioned that some foundation cat colonies already have a certain amount of inbreeding. They really should not be inbred anymore.

If a breeder wants to find out if the foundation cat carries a certain simple recessive gene he/she could breed that cat to a known carriercat. In this case about 16 kittens would have to be produced to be about 99 % sure that the foundation cat does not carry this specific genetic fault. These kittens would NOT have to be inbred. We would then run into the problem with the affected gene pool. After our 16 kittens testing phaseis over, we will logically mix our new line with common show lines and integrate the fresh blood into the general gene pool. Since all purebred species are relatively inbred (line bred) already, many of them actually DO carry the same genetic defects. This means that the offspring of the "tested line" will be bred back into the affected gene pool and the problem will probably pop up again after two generations. Then what have we gained? Shall we perhaps go ahead and produce another 16 kittens with a known carrier at the next generation - and the next generation?

What about the "7 kitten method"? Some people say that test breedings would make more sense if one partner carries the undesirable gene homozygous. This cat then would only have to produce 7 kittens to be about 99 % sure that the other breeding partner is clear of this specific gene. Here is another question: If that cat carries the gene homozygous it would logically also display it (have the problem), right? Now if the genetic fault is severe, would we want to produce several litters with such cat just to find out if our new foundation cat carries the same gene? If on the other hand- the genetic fault is not severe and we just want to find out about an undesirable beauty fault like lockets or a kink tails, then the 7 kitten method would surely have been useful if - yes if it wasnt for all those lovely polygenes!

Another aspect is that of new mutations. A test breeding can produce several new gene mutations that would have not come up in any other breeding, even with the same breeding couple. In other words, kitten number 15 or 16 might display the bad gene we are looking for - but not because the parents carry it but because of a sudden change of cells.

Even though new foundation lines are thoroughly screened and tried out by a responsible foundation breeder, we cannot guarantee these lines to be free from genetic faults. As a matter of fact, no living being is free from genetic faults. People who like to start with "clean foundation stock" need to realize that there simply IS no clean foundation stock. All cats and all lines carry unwanted recessives. There are no clean lines and there are no perfect cats. If we would do inbreeding tests in our current show lines - followed by selection, how many cats would be left in our breeding programs? If we know the answer then why in the world would we even consider test breeding our foundation cats? It seems as if this method would be a step backwards. We would almost be trying to breed for the undesired instead of directly breeding for the DESIRED characteristics.

Here is another thought for people who still think they know their proven show lines and are only concerned about all the terrible faults a foundation cat might carry: Inbreeding tests with one parent being new foundation and the other parent a full pedigreed cat would give us no more evidence about the "cleanness" of our new line than it would give us evidence about the "cleanness" of our old line. Why? Because the recessive genes would have to be carried by both breeding partners, in order for them to be displayed in the offspring. In other words, if a problem pops up, the new line would not have brought anything undesirable into our breeding program that we don't already have.

Often breeders include one outcrossed cat into a cattery, consisting of an average of 5 to 15 or more cats with tightly bred pedigrees. This new outcross then has the task to balance out genetic defects that have manifested themselves over many years. It usually doesn't work that way. It takes time to breed away from things. We are deceiving ourselves if we think we can speed things up with inbreeding tests. If we do them anyhow, we can be almost certain that our inbreeding tests WILL bring us problems because our foundation cats do carry undesirable genes just like every other cat - no need to test breed! What do we do when we find out? Get everything spayed and neutered and start from scratch? And then if another problem arises in our next new line (which will most likely happen, and if it's only from all the inbreeding tests :-), shall we then discontinue that line also? Or do we keep the offspring for breeding and hide complications from others, just to offer them what they expect from us - "clean" foundation? Why inbreed to find out what everybody should expect regardless?

Summary: Defective recessive genes can only be eliminated to some extent, no matter if and no matter how many test breedings are being performed. This is true for ALL Maine Coon cats. Our hope is to bring in unrelated new blood lines and breed these to our common show lines. These cats can bring new problems into our old lines just as much as our old lines can give additional problems to our new foundation cats. However, problems with genetic faults can be minimized or even corrected over a few generations - as long as we stay away from inbreeding. A recessive gene can only become a problem if both parents carry the gene. The chances that two cats carry the same genes are much smaller if they are unrelated. If a problem arises, we can deal with it then and there. A combination of TOS (Testing for genetic diseases, Outcrossing and Selecting) is not the answer to all health concerns. Yet, outcrossing is definitely the most efficient way to reduce immune related problems. Outcrossing combined with testing and selecting is also to some extent an effective tool to fight problems with genetic diseases. Had we avoided to breed with a too limited gene pool from the beginning, we wouldnt have to pay for expensive HCM and HD tests today - simply because these problems would not exist to this overwhelming extent. Many of us strive for good health, but we will never fully succeed in our goals and visions. Even with the best intentions, breeding will remain a gamble and a lot of work. We continue to pray and hope for the best. Though hope can be frail it springs eternally..........

Breed to Avoid Genetic Diseases

By Ulrika Olsson

The risk of genetic diseases is something that is discussed more and more often among cat breeders and in the different cat clubs and associations. Of course we all want our cats to be healthy! Still bad genetic diseases show up every now and then in different breeds. Why does this happen? What can we do about it? In order to understand what is happening in our breeds when the genetic "epidemics" show up, and in trying to control them, one needs to have a little knowledge about the basics of population genetics.

An important word: GENE FREQUENCY

Using the gene for dilute color as an example, let us assume that we have a breed population of 100 cats. Since every cat has a double set of chromosomes, this population will have 200 loci for the dilution gene - meaning 200 places where the D or d gene can be situated. Now assume that 40 of these loci are filled with a d-gene, while the remaining 160 are filled with D-genes. Then the gene frequency for d in this population is 40/200 = 0,20 = 20%. In the same way we find that the gene frequency for D is 160/200 = 0,80 = 80%.

Now if certain equilibrium criteria (Hardy-Weinberg's equilibrium) are fullfilled - which they never are completely in reality, but let's not bother about that for the moment - then the probability of two d genes to meet in an individual, and result in a blue kitten, will be 20% x 20% = 0,20 x 0,20 = 0,04 = 4%.

The probability for a kitten in this population to be a carrier (heterozygous) of dilute is 20% x 80% + 80% x 20% (the probability of a d gene in one particular of the two chromosomes x the probability of a D gene in the other chromosome + the probability of a d gene in "the other" chromosome x the probability of a D gene in "the first" chromosome) = 2 x (0,20 x 0,80) = 0,32 = 32%.

The probability for a kitten in this population to be homozygous black (non-diluted), DD, is 80% x 80% = 0,80 x 0,80 = 0,64 = 64%.

Now we look at it from the opposite direction. Assume that we have discovered that 16% of the population has PRA. If we could now assume that the above mentioned equilibrium criteria are fullfilled (and assuming among other things that the population is not divided into different lines), then we could estimate the gene frequency of the recessive PRA gene. Let us call this gene frequency f. Then we know that f x f = 0,16. Then we simply solve the equation. f = the square root of 0,16. f = 0,40 = 40%.

We can now also estimate the proportion of heterozygous carriers of the PRA gene: (0,40 x 0,60) + (0,60 x 0,40) = 2 x (0,40 x 0,60) = 48%. Very handy, don't you agree? Now over to the subject of gene pool and inbreeding, a very important subject!

Effective Population

The fact that some breeds are larger in population than others and also the fact that the gene pool can be too limited in a small breed is probably obvious to most breeders. But far too many breeders feel secure in that the larger breeds - for instance Persians and Birmans - have a large enough gene pool. No risk of inbreeding problems there, unless you choose to deliberately inbreed a line! But that is not always true.

We sometimes discuss the fact that overbreeding from a few outstanding individuals is harmful for breeds, even the larger breeds. The most extreme overbreeding from one individual that we could imagine is if one single male is mating every female in a population in a generation. With that kind of breeding, of course the gene pool will not be large, even if the population contained a thousand unrelated females. In order to get a better idea about just HOW large the gene pool really is in such a case, we could calculate the effective population. If the population contains 100 individuals, with an equal number of males and females, all of which are mated randomly to each other with the same amount of offsprings resulting from every parent, then the EFFECTIVE population is also 100. On the other hand, with the extreme overbreeding of one male described above, we can calculate the effective population with the following formula:

       1        1        1

      ---- = ------ + -------

       Ne    4 x Nm    4 x Nf

Where Ne = the effective population, Nm = number of males, Nf = number of females.

In our case:

       1       1         1

      ---- = ----- + --------

       Ne    4 x 1   4 x 1000



       1      1     1

      ---- = --- + ----

       Ne     4    4000



       1     1001

      ---- = ----

       Ne    4000



       Ne    4000

      ---- = ----

       1     1001



      Ne = 3,996

So this large population - 1001 animals used for breeding - equals a population of only 2 males and 2 females!

Generally speaking, the effective population will not be larger than 4 times the number of individuals of the least represented sex. (Unless you have set up a breeding program specificly designed to avoid losing genetic variation, but that is very seldom the case in cat breeding.) This means that if 5 males are used, the effective population will not be more than 4 x 5 = 20, even if we could use a million different females in that breeding program.

In reality of course it is seldom the case that five males are used for equally many litters and the remaining males in the population are not used for breeding AT ALL. Then it gets a bit difficult to use this formula. But don't worry! There are other methods!

A too small effective population will cause the degree of inbreeding to increase for every generation. There is a connection between inbreeding and effective population. Using this connection we will be able to calculate the effective population of our cat breeds. We can use our pedigrees to calculate the coefficient of inbreeding, COI. The easiest way of doing this is to enter the pedigree in a good pedigree program that is capable of calculating the COI. It is also possible to calculate it by hand. It is not difficult at all, but if the relationships are complicated and you want to calculate the COI from many generations, it is very time consuming, and there is a considerable risk to make a small error somewhere along the way. However, if the relationships are simple and the number of generations to calculate from is reasonable, you could quickly calculate the COI directly from the pedigree. It really is a good thing to know how to do! There have been many articles published devoted to explaining how.

If we would like to calculate the effective population of a particular cat breed in a specific country, for instance Cornish Rex, we would first need a file or a database with the pedigrees of the Cornish Rexes in the chosen country. From this database we pick out the litters that were born during the latest year. If there are very many litters, a sample with the desired number of litters could be selected randomly from those litters. Then we calculate the COI for these litters, for instance calculated from 5 generations. Take mean value of these COIs, and keep it for later use. Then we take all the parents of our selected litters and calculate the COIs for those cats, only now we calculate from one generation less - in our case 4 generations. And then we take the mean value of these COIs. Assume that we got the mean value 5,5% for the litters and the mean value 4,5% for the parents of the litters. We then take the difference between those two numbers, 5,5% - 4,5% = 1,0 percent unit. We are interested in the percent with which the degree of heterozygosity has been decreased in this generation, and that will then be 0,01/(1-0,045) = 0,01047, or 1, 047%. And then we have another formula:

              1

      Ne = ------

           2 x dF

... where Ne is the effective population, and dF is the decrease of heterozygosity in the latest generation, as calculated above.

In our example, with dF = 1,047% = 0,01047, we get:

                1

      Ne = ----------- = 47,76

           2 x 0,01047

The effective population of Cornish Rex would then in our example be 48. An effective population of 50 is generally considered to be the limit for when a species is considered to be directly threatened by extinction. Now of course our cat breeds are not separate species, but with closed studbooks the effect will be the same.

Now it could be the case that the Cornish Rexes in our population are inbred to a greater extent than what is really necessary, only because the breeders are separated in smaller groups, breeding the cats in different lines. Perhaps our effective population could be larger if this segregation into lines didn't exist? How can we check this?

Then we go back tho the group of parents of the litters in our sample, divide them into males and females, and then we test mate them randomly. The COIs are calculated for those random matings, we calculate the mean value of them, and then compare this value with the mean value of the COIs of the parents again. Assume that the random matings had the mean value of 5,0%. Then dF = (0,05-0,045)/(1-0,045) = 0,005236 = 0,5236%. And...

                1

      Ne = ------------ = 95,49

           2 x 0,005236

So, in this case the effective population will be at a much more reasonable level if we just can achieve a better cooperation between the breeders in the country.

What happens if the effective population is too small?

One thing that happens is that the inbreeding coefficient increases for every generation. Actually, this happens for ALL populations that are not of unlimited size, but then the natural selection is probably working against more inbred individuals, so that reasonably small increases of the inbreeding are adjusted and status quo is kept. It is also known that a larger number of eggcells get fertilized than the number of offsprings that finally are born in the litters, and one theory is that these early featuses have to "fight" for their place in the uterus, and that the more homozygous featuses are less likely to survive. This theory however not been proven to be true.

What will happen, when the inbreeding coefficient is increased generation by generation? In the beginning, not much at all. It isn't until the degree of homozygosity reaches a certain critical level that the real problems show up, and then it is usually much more difficult to take corrective action. It is much better to start working against these problems before the symptoms show up. The pedagogic problem then of course is that those who begin to breed with too few individuals won't immediately see the problems that it will cause. They think "I have bred in this way for many years, and I have not had any problems". But as we can see, "trial and error" is not a very good approach here! When "error" appears it is a bit late to adjust in an easy way.

Why then is inbreeding so dangerous? One thing - that every educated breeder knows about - is that it means an increased risk of doubling up on harmful or lethal recessive genes. The double set of chromosomes otherwise protects us from this risk, to a great extent in a population that is not too inbred. All individuals carry a few harmful recessive genes. Some people think that the inbreeding clears out the harmful recessives and leads to a healthier breed for the future. But first, the inbreeding doesn't clear out anything in itself, it has to be combined with a strong selection in order to clear out any undesirable genes. Second, you have to inbreed incredibly strongly in order to get all or almost all loci homozygous, so that you can see what the cats are carrying and weed out all the undesirable genes. Mate a female with her full brother, and 25% of all loci are homozygous. Then mate two of these offsprings with eachother, and 37,5% of their loci are homozygous. And then we take two of THOSE offsprings and mate them with each other! Now the inbreeding is so strong that most breeders would back away. But still "only" 50% of the loci are homozygous. So in spite of this drastic inbreeding, we will miss out on exposing other recessive, potentially harmful genes.

But let us assume that we go all the way with this! We breed a line towards 100% homozygosity, selecting strongly against harmful genes all the way. All individuals will then have exactly the same genotype, except for the fact that the males must have a Y chromosome where the females have a second X chromosome.

OK, it took a lot of effort and money to make this so called isogene line, and many cats died on the way. But if we now finally have reached to this point, then we have a line that is 100% healthy from a genetic point of view! Yippeeee!!!

It is possible, this can be done, if you are careful not to let the level of homozygosity increase more quickly than you manage to weed out the bad genes. This has been done with mice that are to be used for scientific tests. It works very well! But... they only manage to get about one line out of twenty to survive. The other 19 lines are dying in the process. Maybe better not to take that chance?

Also, the immune system is not very good in homozygous individuals. The immune system works much better if the loci involved are heterozygous, since this gives the individual the possibility to develop more DIFFERENT kinds of antibodies, not just lots of antibodies of the SAME kind. This is not a major problem in laboratory mice, since their environment is quite protected from (undesired) contagious diseases, and since it isn't exactly considered to be a tragedy, unfortunately, if a laboratory mouse dies. If on the other hand a much loved pet cat and family member dies it is indeed very sad. Hmmm... Perhaps not such a good idea after all?!

On top of that mutations happen spontaniously and would with time destroy our fine genotype. You have to count on one or two new mutations in every individual.

I think we had better change our strategy!

But what if the breed is already inbred?

If a breed or a population is already so inbred that clear signs of inbreeding depression have shown up, for instance a high rate of early cancer or infections, what to do then?

If there are unrelated lines in other countries, of course the best solution would be to increase the exchange of cats between those countries. If such unrelated lines are not available, we will have to outcross to another breed or unregistered cats that fit the standard reasonably well. If enough new genes are mixed into the population, the inbreeding problem will be solved.

A not uncommon objection against these kinds of solutions is that we don't know which new harmful recessives might be introduced into our breed through these outcrosses. That is true, we don't know. What we do know though is that most individuals carry some harmful recessive genes. Many breeders also think that it is better to have a more inbred population less different kinds of genetic diseases, in order to more easily keep them under control. Maybe there are even tests available for those deseases. But, as we will see below, it is better to have lower frequencies of several different harmful recessives than to have a higher frequency of one single recessive.

Assume that we have a population A with a gene frequency of 50% for some kind of recessive defect. We will compare it to a population B with gene frequencies of 10% for five different recessive defects. Both populations will then have the same frequency of harmful genes, but population A has defect genes of only one kind (easy to keep under control) while population B has its defect genes divided in five different kinds.

The risk for a kitten in population A to show the genetic disease is then 0,50 x 0,50 = 0,25 = 25%.

The risk for a kitten to show a genetic disease in population B is 5 x (0,10 x 0,10) = 0,05 = 5%. This shows that we get considerably less defective kittens in a population which has lower frequencies for several different kinds of diseases. The most effective way to keep a breed healthy is not to try to eliminate the harmful recessives, but to get the frequency down to a such a low level that two harmful recessives of the same kind almost never meet.

Some breeders will hesitate to outcross because they are afraid that the type will be gone for ever. Some breeders are of the opinion that inbreeding (linebreeding) is the only way to get excellent and uniform type. It is true that by using inbreeding you can achieve quicker results in this area. The problem is that you risk the long term health of the cats. It is possible to achieve the same result without inbreeding, although it takes more time. Unfortunately inbreeding is a very tempting shortcut for breeders that are interested in showing their cats. But one should keep in mind that most of the genes that are doubled up by inbreeding have absolutely nothing to do with type. For instance, a human has approximately 100 000 genes, and 98,5% of those are identical with those of a chimpanzee! And still, aren't we rather different from a chimpanzee? How large a part of the genes could different between a Siamese and a Persian? Or a Norwegian Forestcat and a Maine Coon? Or between a Burmese of good type and a Burmese look alike moggie with reasonably good type? Not more than what we can fix with some generations of selective breeding, I'm quite sure about that!

Genetic problems are showing up in the breeds!

Yes, that is also due to a too small effective population! Unless it is due to a breeding without regard to the anatomic functions of the animal. Breeding for extremely long bodies might cause problems with the back, and breeding for very short faces might give problems with the teeth, breeding for extremely triangular, square, round, etc. heads might cause problems with jaws, eyes, brain, or whatever. A cat must be allowed to first and foremost be a CAT. It is not a piece of clay that we can shape after our own estetic ideals. A cat doesn't consist of circles, triangles, squares, or other geometric figures, we have to remember that. Sometimes I tend to agree with a genetiscist, mostly working with dogs, who suggested that perhaps we should breed all dogs with the coats of a poodle, so that we could CUT out the geometric shapes and odd angles that we find attractive. Then the animals could have their anatomy in peace.

Except for this sad phenomenon, it is the too small effective populations that cause the high frequencies of many genetic diseases to show up in breeds. Many breeders seem to be a bit confused about this. They might think that if we have for instance 10% of the cats in a breed affected by PRA, meaning a gene frequency of approximately 32% for the recessive PRA gene, and if we don't test and work to reduce this frequency, then the frequency will automaticly increase with time. This is of course not correct. If it were, then also the frequency of diluted (blue, cream, etc.) cats would increase all the time unless we selected against the dilution gene. If the effective population is big enough, and no selection for or against PRA is made, then the gene frequency will stay at 32%.

On the other hand if we select ever so weakly against PRA, for instance let the cats who themselves have PRA (homozygots) have no more than one litter, then the gene frequency will decrease. Slowly with a weak selection, more quickly with a strong selection. If we could now remove all cats showing PRA from the breeding program before they have any kittens at all, the result would be this:

      generation      Frequency of genotypes (%)

      number          PP         Pp        pp



      1               46,8       43,2      10,0

      2               57,8       36,5      5,76

      3               65,0       31,2      3,74

      4               70,2       27,2      2,62

      5               74,1       24,0      1,94

      And so on.

 

But then what happens if the effective population is too small? What will then happen with the gene frequency? It will be the same effect as if you toss up a coin 10 times. Your chance for heads is 50% every time. And if you had tossed up this coin 1000 times, you would have got quite close to 50% heads and 50% tails. But now you only toss it 10 times. Then it is not very surprising if you by chance got 70% heads and 30% tails, or 30% heads and 70% tails, or something like that.

In the analogous scenario in a small cat population, it means that the gene frequency of around 30% in the next generation might have increased to 35%, because of this random effect. Or else it might have decreased to 25%, because of the same random effect, which in the PRA case would of course be a lot nicer. But let's be pessimistic and assume that the frequency increased to 35%. Then the EXPECTED value of the gene frequency for the next generation is also 35%. But by chance it might end up at 29%, 34%, 38%, 42%, or whatever. The smaller the effective population is the larger the risk is of getting a large deviation from the expected value of the gene frequency. Then this frequency, that we got randomly, will be the expected value for the next generation. This phenomenon is called random drift. If the impact of this random drift gets stronger than the impact of the selection - natural or artificial - then the changes of the gene frequency could very well be the opposite to what we wanted. DESPITE the selection. Then the eyes might get paler in our Siameses, or the lynx tufts might get smaller in our Norwegian Forestcats, or PKD might get more common in our Persians. That would of course be anything but funny!

If we now look into why PKD became a far too common problem in the Persians, it could hardly be caused by some mysterious selection in favour of lumpy kidneys. It must have another cause.

It must of course have started with a mutation in a cat long ago. It was a dominant gene, so the cat developed cycts on its kidneys. Let us assume that it was a male that died from the PKD at 5 years of age. Or perhaps at 7-8 years of age. Either way, we have a certain selection against the gene. If the population is then large enough, the frequency will then decrease and eventually go down to 0%. And even if there were no selection against the gene what so ever, there would be a good chance for the gene to disappear within a few generations, since the frequency could by chance be slightly larger or slightly smaller. And since the frequency was initially very small (one mutated gene in a large population), it is rather likely that the frequency by chance happened to decrease to 0%, and then the gene is gone.

So, the effective population for the Persians apparently was not large enough. Random drift resulted, and by chance this unfortunately caused an increase of the frequency of the PKD gene. In spite of a certain amount of selection against the gene, the result was that the frequency ended up at approximately 25-30% before more breeders became aware of the problem and a stronger selection was introduced.

What does all this tell us? That if we don't have large enough effective populations, then high frequencies of unpleasant genetic problems will continue to pop up. If we are unlucky we might also have difficulties attempting to reduce these problems with selection.

If we instead make sure that we have large enough effective populations in our breeds, genetic diseases will not pop up as a common problem in the entire population. And as a bonus we avoid inbreeding depressions and bad immune systems.

To breed with too small effective populations, and at the same time start projects to fight against genetic diseases within a breed, is just like being treated for lung cancer and continue smoking. Or to scoop out and wipe away the water that have poured over the rim of the bath-tub, while we still haven't remembered to close the tap, so the water is still pouring INTO the tub.

To work for large enough genepools is a kind of preventive medicine measures for the breeds. It doesn't seem clever just to treat the ailments, without bothering about the preventive measures that could prevent the ailments to arise in the first place.

We should also keep this need for reasonably large effective populations in mind when we create and accept one spotted shorthaired cat breed after the other, and one large furry semilonghair breed of medium head-type after the other, etc. Unless the number of breeders willing to work with spotted shorthaired breeds is increased at the same rate as the increase of the number of breeds, the reqruitment of for instance Bengal breeders - just an example - will be at the expense of the Ocicats', Spotted Oriental Shorthairs', Egyptian Maus', etc. possibilities to keep a constant and large enough number of animals for breeding in their breeding programs. Can these breeds afford this? Will the new breed be able to create a place for itself among all these other breeds? Or perhaps they will all get too small populations, so that we in the end have destroyed all the spotted shorthair breeds? These are important things for us in the cat organisations to think about. These threats are real, not just "in theory", and we have already begun to see the first effects, although not yet as badly as in the dog breeds. But I'm afraid it will get worse, unless we do something about it - the sooner the better.

So this is something that we in the cat organisations have to start working with. It must not be forgotten among all the specific projects against specific diseases. It is about the actual basis for the health of the cats.

©This email address is being protected from spambots. You need JavaScript enabled to view it., 2002

Many thanks to Cynthia Bowen, Coontopia cattery, for help with the complicated English language!



Databases on the Internet

In order to be sure that the effective populations and genepools are large enough for the breeds that we are working with, it is necessary to create databases with all cats gathered, regardless of what associations they are registered with. The population genetiscists will then have an opportunity to study the situation for every breed, and we could get breeding recommendations based on facts instead of guesses about what we THINK is the situation. We could also get to know in time, before the SYMPTOMS of inbreeding show up, if the breed is on its way to lose genetic variation in its genepool.

In order to inform and support the breeders worldwide, it is also important that these databases are available on the Internet, so that everyone can share the information that has been gathered. As I see it, the registrations are made in order to benefit the breeding, and then the information also must be available to the breeders. After all, it is the breeders that are making the breeding decisions. So the registrated information must be released for breeders all over the world to study.

Initially, when a more open policy is being discussed, it is common that some people are worried that the release of information will make it easier to falsify pedigrees. But the question is if it doesn't rather make it more difficult to falsify pedigrees, since also those pedigrees soon would show up online. And then the owners of the cats involved would of course react immediately and actions could be taken to correct what is wrong.

All this could possibly sound a bit scary to someone who hasn't been thinking about it before, but I believe that the attitude that the pedigree information should be kept secret is only a question of tradition. As I see it there would be many benefits if the registrated information was released - one just has to get used to the thought of it and convince oneself that nothing dangerous is going to happen.

I am firmly convinced that "bad" breeding choices, from a health point of view, to the greatest part is caused by lack of information and knowledge about the mechanisms. These databases could, combined with increased educations organised by the cat clubs, very much contribute to increased knowledge about the breeds and breeding among the breeders. That would then lead to improved genetic health in our cats.