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Basic Cat Genetics
Felis sylvestra
All domestic cats are descended from a wild ancestor (probably either Felis silvestris or Felis
lybica) a mackerel tabby patterned animal, and thus all domestic cats are of an underlying
genetic tabby pattern. All cats have 19 pairs of chromosomes upon which there are many
thousands of genes that govern the eventual shape, size, sex, colour, pattern and hair
length of the individual animal. Over the generations a number of mutations have occurred
and selective breeding has been used to isolate these to produce the various pedigree
breeds we see today.
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The mapping of the feline genome has indentified the genes that control coat, colour and
pattern in cats along with those that control body size, shape and conformation and those
which control diseases and structural abnormalities.
Genetics
Gene: (from the Greek genos) is the hereditary factor transmitted by each parent to offspring
which determines hereditary characteristics. Genetics: the scientific study of the heredity of
individuals, especially of inherited characteristics.
Genes: All animals have 20-25,000 genes; every living being that is reproduced from two
parents inherits characteristics equally from both of them. These characteristics are
determined by genes, control mechanisms carried rather like beads on strings along two rod-
like bodies, called chromosomes. For each particular trait or characteristic, there is a gene
arranged in a particular order along the chromosome that controls the expression of that
trait.
Cells and Chromosomes: Living organisms are composed of cells. A typical cell contains a
nucleus within which are DNA and RNA - the building blocks of life. The DNA is organised
into chromosomes which in turn carry the genes.
There are two types of cells, body cells and sex cells, and in the cat each cell has 38
chromosomes, which are arranged in pairs-19 pairs in all. Sometimes both halves of a pair
carry identical genes, sometimes not. Out of these 38 there are only two chromosomes that
determine the sex of the individual-the X and the Y chromosomes. Only males have the Y
chromosomes, and XY denotes a male, while the female is XX. Prior to fertilisation taking
place at mating, the gametes (sperm or ova), receive half a set of chromosomes from each
parent. During fertilisation, the sperm and ova fuse to produce a new genetic combination in
the resulting fertilised cell or zygote. The newly formed zygote contains a random selection
of those genes the parents have inherited from their parents. These then combine in the new
cell to make up the full complement of 19 chromosome pairs. A zygote develops into an
embryo/foetus/newborn by cell division called mitosis. In normal cell division, which creates
new cells for growth, the full set of genes is replicated for each new cell.
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The animal's genetic makeup is called its genotype. Some of these characters may be
hidden and are not perceived when one looks at the cat. The outward appearance is the
phenotype. The difference can be caused by dominant or recessive genes. There are also
genes that are not fully penetrant, masking genes, modifier or polygenes, sex-linked genes,
and inhibitor genes, as well as disease-causing genes (see later).
Homozygous & Heterozygous: If a kitten receives identical genes from both parents for a
particular characteristic, ie the genes on that pair of chromosomes are the same, the animal
is said to be homozygous for that trait. But if it receives a particular gene from one parent
and an alternative from the other, the pair is made up of two different genes, and the animal
is said to be heterozygous for that characteristic. Genes with a matched partner for a
comparable characteristic-hair length for instance-are called alleles, and are found in the
same spot or locus on the chromosome.
Dominant and Recessive Genes: If a cat is homozygous (BB or bb) the same message is
sent and received, both genes on that pair of chromosomes are identical. If it is
heterozygous (Bb) the dominant gene is in control – the recessive (b) is still there, but may
have little or no effect over (B) its dominant partner. Solid white is a masking gene and is
dominant to all other colours; black (or seal) are dominant to chocolate or cinnamon; tabby
(agouti) is dominant to self or solid (non-agouti); shorthair is dominant to longhair, to
mention just a few.
A Seal Point Siamese, for instance, is homozygous for the recessive Himalayan (or
Siamese) pattern, but it may also be heterozygous if it carries the recessive gene for
chocolate. Recessive genes may be 'carried' undetected for many generations.
Undesirable Recessive Genes are very difficult to eliminate because they are not
expressed or seen until they meet up with an identical partner in a particular mating (hence
the desire for DNA tests to locate these genes). Some of the undesirable recessive genes
which concern cat breeders are: kinked tails, squints, malocclusions, haemophilia, flat-
chested kitten syndrome, cryptorchidism (no testes descended) and monorchidism (only one
testicle in the scrotum).
Dominant genes include split foot, and polydactily (abnormal number of toes). Other
abnormalities which are thought to be genetic but the exact method of transmission is as yet
unclear are: luxating patella (footballers knee), amyloidosis, umbilical hernia, and protruding
sternum. Genes for dwarfism, cleft palate, deafness, cardiomyopathy (heart disease) have
also been identified in other mammals, eg humans and/or mice.
Once the basic rules of inheritance are understood, and the dominance or recessivity of any
specific characteristics have been determined, it is possible to work out the characteristics to
be expected from virtually any crosses between cats whose ancestry and genetic makeup is
known.
Mutations: A rare mistake in the process of cell division or, for instance, the effects of
radiation, can bring about minute chemical changes which produce a variation in the DNA, or
mutation. Several mutations have given rise to the various coat colours and patterns we see
in our cats today.
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In cats, the chocolate gene (b) is known to be a mutation of the black gene (B). It was a
natural spontaneous mutation which changed black to chocolate by changing the eumelanin
granules to a spheroid shape which refracts the light in a different way, making them appear
chocolate. So the Chocolate Point Siamese was a spontaneous mutation and no outcross
was used to produce the chocolate colour.
Many other feline mutations are obvious, such as the Rex coat, the hairless Sphynx, the
ears of the Scottish Fold and the American Curl, the Manx, Japanese Bobtail, and so on.
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Pigmentation: Melanin is the substance which causes colouration of the hair shaft. The
size and shape of these melanin granules is what determines the colour of the cat, and
these in turn are controlled by its pigment production genes. Melanin production is a
metabolic pathway that starts with the amino acid, tyrosine.
The pigment granules in each hair of the cat’s coat contain either Eumelanin which is black,
or Phaeomelanin which is yellow. Black melanin or eumelanin granules are thought to be
oval in shape and absorb almost all light. Red melanin or phaeomelanin granules are
thought to be like elongated footballs in shape and refract light in the red-orange-yellow
range. The true red gene, called orange by some geneticists and symbolised by O, converts
eumelanin to phaeomelanin, and results in a rich orange-red coat. When the dilution gene is
present, the colour appears cream or buff. The red and cream colour in the cat is called a
sex-linked gene because it is carried on the X chromosome. To understand its mode of
inheritance, we need to know sex and colour of parents. The mating of a red and a black
parent can result in the spectacular mixture of shades of red and black seen in the
tortoiseshell pattern that generally occurs in female cats. The possible kitten colours from the
various combinations of red, tortoiseshell and non-red parents are better understood by the
checkerboard colour diagrams,
Most reds and creams will show tabby markings to a greater or lesser degree, as the non-
agouti gene does not affect phaeomelanin. To achieve a clear-coated red the cat needs to
be an agouti (ticked) tabby and highly rufoused. Rufousing (or ruddyness) is an
enhancement of ground colour caused by the rufousing polygene(s), as in selectively bred
Abyssinans, and some brown tabbies, which show a rich warm apricot ground colour. A
lighter brown( b1), which is more reddish than chocolate (b), known as Cinnamon, is a
different recessive of the B gene than the one that causes chocolate. It is not to be confused
with the sex-linked red/orange gene (O).
Masking genes: Phaeomelanin masks eumelanin, so a red cat masks the black. White is
not really a colour, but an absence of colour. The white gene is dominant and masks all
other colours completely. The Foreign White is really a cat of quite another colour (usually a
Siamese) wearing a white overcoat! Sometimes Nature gives us a clue by showing a few
hairs of the underlying colour on top of a white kitten's head.
The genetics of coat colour in cats and other mammals is complex. During the development
of the embryo, melanoblasts (precursors to melanocytes, the melanin-producing cells)
migrate in a dorsal-to-ventral direction from the neural crest, and end up in the skin. This
migration is controlled by at least two genes (w and S). Once at their target location the
melanoblasts differentiate into the melanocytes and can start pigment production. The
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production of, pattern and location of pigmentation depends on additional genes some major
and others minor or polygenetic in their effect; the major genes are discussed below.
Agouti (A) - the natural “wild” gene that is the basis of the tabby cat. The base agouti
pattern is bands of black on a yellow background in wild mice, rabbits and cats; in the cat
this is overlaid with one of the tabby patterns. The Agouti gene (A) is dominant over the non-
agouti (a) gene, ie, the gene for solid colour,
Non- agouti or “hypermelanistic” (a) - a recessive gene mutation that turns the original
“wild” tabby cat into a self black by overlaying the agouti base colour with melanic pigment,
making the whole animal appear black, although often in certain light the underlying tabby
pattern may still just be discernible. Other genes work to change this black pigment to other
colours (see below).
Full Colour (C); reduced colour (cb, cs or c) - The C, or colour gene product is tyrosinase,
an enzyme responsible for the first step in the synthesis of melanin from the amino acid
tyrosine. The C allele is fully dominant and gives full coat colour. Alleles cb (Burmese) and
cs (Siamese) produce thermo-sensitive (temperature-sensitive) versions of the enzyme – the
enzyme works at lower temperatures but not at the normal core body temperature of the cat.
Consequently, pigment production is restricted to the cooler extremities. cb is less
temperature sensitive than cs, so there is more pigmentation with cbcb cats than with cscs
cats. Even at the extremities, however, these temperature sensitive enzymes are not
working to full capacity; the colour at the extremity tips of a Siamese cat is usually not as
intense as the colour in a cat with the dominant allele, C. Allele c does not produce any
active enzyme; cc animals are albino (white). cbcs cats are Tonkinese, a non-pure breeding
hybrid of the Burmese and Siamese. (A litter of kittens whose father and mother are both
Tonkinese may have up to 12 different coat patterns ranging from that of the typical
Burmese and Siamese as well as intermediates.) The dominance series for coat colour
alleles is C > cb = cs > c. (C is fully dominant over the other alleles; cb and cs are
incompletely dominant with respect to each other, and c is fully recessive to the other
alleles.) Note: cc is the only genotype that is epistatic to the W allele; an albino cat cannot
produce any pigment at all, no matter whether the melanocytes are present in the skin or
not. Albino cats also lack eye pigmentation.
Chocolate (b) and Cinnamon (b1) – two mutations of the basic black non-agouti gene
which modifies black into dark brown or medium brown respectively
Orange (O) – this is a mutation on the X chromosome and is thus sex-linked. The gene
eliminates all melanin pigment (black and brown) from the hair fibres, replacing it with
phaenomelanin, a lighter compound appearing yellow or orange depending on the density of
pigment granules. The O allele is also epistatic over the non agouti genotype; that is, the
agouti to non-agouti mutation does not have a discernible effect on red or cream coloured
cats, resulting in these self-coloured cats displaying tabby striping independent of their
genotype at this locus. This explains why you can usually see some tabby pattern on red,
cream and apricot coloured non-agouti cats, even if only on the head/face. Rufus
polygenes, as yet unidentified, affect the richness of the orange gene’s expression.
Dilute (d) – a recessive gene which reduces and spreads out the pigment granules along
the hair-shaft and turns a black to blue, chocolate to lilac, cinnamon to fawn and red to
cream.
Dilute modifier (Dm) – a dominant gene which serves to modify the action of the dilute
gene (it has no effect on undiluted colours), it lightens and “caramelizes” the colour turning
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blue into brownish-grey, lilac and fawn into pale taupe (in all three cases known as Caramel)
and cream into a warmer pinkish-cream tone (Apricot)
Inhibitor (I) – a dominant gene that suppresses the development of pigment in the hair of
the coat, typically producing hairs that are fully coloured only at the tip and have a silvery
white base. It has greater effect on the lighter pigment in an agouti cat, removing the yellow
colour and turning the base colour white or “silver”. In the case of a non-agouti cat the
inhibitor removes colour from the base of the hair-shaft to produce a silvery white hair with a
coloured tip, i.e a Smoke. This allele appears to interact with other genes to produce various
degrees of tipping, ranging from deeply tipped silver tabby to lightly tipped silver shaded
tabby.
Tabby patterning genes – Traditionally it had been believed that the three forms of tabby
pattern were inherited as an allelic series; however it now appears as if at least two, and
probably three, different loci are responsible for the various tabby patterns (Lorimer, 1995).
At one locus are the alleles for mackerel and blotched (classic) tabby patterns with mackerel
dominant to classic; at another locus is the Abyssinian or ticked pattern, which is epistatic
(masking) to both mackerel and blotched; and at the third locus there appears to be a
modifying gene for either the classic or mackerel patterns resulting in the spotted tabby
pattern. The patterns can be summarised as follows:
Mackerel (Mc) – the basic striped tabby pattern that overlays the agouti base (ie “wild” form)
Ticked (T) – an incompletely dominant gene which removes most of the stripe pattern
leaving the ticked agouti base pattern on the body with minimal overlaying stripes on legs,
chest (necklace) and face.
Spotted (Sp) – current thinking is that it is likely that a specific single gene causes the
spotted tabby pattern, breaking up the mackerel or classic pattern into elongated or rounder
spots respectively.
Classic (mc) – a mutation of the mackerel allele recessive to all other tabby patterns which
gives a blotched pattern with the characteristic “butterfly” motif across the shoulders and
“oysters” on flanks.
Wide-banding (Wb) – this has been hypothesized either as a gene (Robinson) or more
probably a group of genes (Joan Wasselhuber, who coined the term “wide-banding genes”):
increasing evidence for their existence has led to wide acceptance. Undercoat width genes
determine the width of the undercoat whether or not the cat has a silver inhibitor gene. The
term “undercoat” used here refers to part of the hair shaft closest to the body, and includes
both guard hairs and the shorter hairs often referred to as “undercoat” hairs. The variability
seen in the undercoat widths in cats points to the polygenetic nature of wide-banding genes.
If a single gene it is likely an incompletely dominant gene mutation, the effect serving to push
the darker, pattern colour in the cat up away from the hair base towards the tip, turning the
normal tabby patterns into a Shaded or Tipped cat. Precisely how the agouti, inhibitor and
wide-banding genes interact on a molecular level is not clear - one possibility is that the
wide-banding genes influence the agouti protein production to remain high so that eumelanin
pigment remains inhibited or down-regulated; another possibility is that the wide-banding
gene encodes for a second inhibitory protein that also down-regulates eumelanin.
Long-hair (l) – a recessive gene mutation which produces a semi-long haired cat. LL or Ll
cats have short hair; ll cats have long hair. Every kitten is born with all the hair follicles it will
ever have. Each hair follicle can produce hair in several rounds. The hair has a distinct
growth period followed by a resting period. Eventually, the hair is shed and the follicle will
produce another hair. A popular hypothesis to explain long-haired cats is that in ll cats, the
growth phase is extended beyond the normal range.
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Dominant White (W) - is called the “dominant-white” gene because it is an epistatic gene.
Before melanocytes can start making fur pigment, the melanoblasts must migrate to the skin.
Melanoblasts make it to the skin only in ww (homozygous recessive) animals. In WW or Ww
animals, the skin lacks melanocytes and the cat is a solid white color (W is a completely
dominant allele). The epistatic dominant white phenotype masks other pigment traits. A cat
that has any colour in its fur will be ww.
White Spotting or “piebald-spotting” (S) - is the "piebald-spotting" gene – a second gene
that affects melanocyte migration. S and s are incompletely dominant alleles. In ss animals,
melanocytes migrate evenly to the ventral surface of the animal, so the cat is completely
pigmented. Ss animals have less than 50% white fur and SS animals have white patches on
more than 50% of the body.
Polygenes – these are collections of genes which modify the effect of the main dominant
and recessive genes above. A build up of polygenes creates a bigger effect, for example a
collection of certain polygenes increases the length and density of the long-hair gene to
create the Persian, and a build-up of polygenes serves to enhance the effect of the main
colour genes, turning the effect of the orange gene from the sandy colour of the ginger
domestic tom to the rich vibrant red of the Red Persian, British or Asian Self. It is likely that
a group of polygenes is the reason for variation in the degree of tipping in the Shaded
Tabby/Burmilla, the polygenes working to create the band-width in interaction with the
inhibitor gene (when present) resulting in the range of pattern from tipped to heavily shaded.
Also responsible for the depth of colour in fur or eyes
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Applying Genetics to Breeding There are three recognised types of breeding: outcrossing,
inbreeding, and line breeding.
Outcrossing means breeding to unrelated stock in order to strengthen one's one lines; the
term hybrid vigour is a key benefit of outcrossing. The problem with outcrossing is that
along with all that vigour can come too many undesirable or unpredictable genes because
with increased vigour comes an increase in the number of variable genes.
Inbreeding means back crosses to parents, and crosses to litter mates. It is important to
know what is in one's breeding stock, and inbreeding is the easiest and quickest way of
learning what is bad, but even more significantly, what is good becomes apparent as well.
Line breeding means breeding to a family of cousins of similar lines that have produced
your own stock. Upgrade stock to the best points in each related line, and only line breed to
an outstanding individual. The big deal is to get the genes we really want. To do this requires
knowledge, patience and goals.
Pure breeding means cats that have registered ancestry, generation after generation
standing behind them, and that means they should produce predictable kittens.
Glossary of Genetic Symbols
symbol image name description
native, wild, controls the production of
agouti pigment in the hair shaft, turning it on
A gene and off to produce a striped pattern on
each hair
mutation that blocks the normal on-off
a agouti off colour production and produces hair
that is one solid colour tip to root.
native, wild, produces black
B black (eumelanin) pigment granules that are
round in shape
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mutation of B which changes the
b chocolate shape of the pigment granules to oval
giving the impression of brown
mutation of B which changes the
shape of the pigment granules to cigar
b1 cinnamon
shaped to give the impression of the
colour of cinnamon
Full native wild type gene, allows the
C Colour production of full colour
two copies of this recessive gene will
c no colour produce pink eyed white with no
colour pigment
two copies of this recessive gene will
ca albino produce blue eyed white cats with
china blue eyes
a sight restriction of the colour
production that is temperature
cb . Burmese sensitive. More pigment is produced in
the areas of the skin that are cooler
temperature.
a distinctive restriction of colour
production with cooler areas being
cs . Siamese
very dense pigment and warmer areas
being little colour at all.
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Dense production of pigment
D Dense
produced in the hair shaft
pigment granules are produced in
clumps with spaces of no pigment
d dilute
between the clumps giving the
impression of a lighter colour.
a mutation that stops the production of
I Inhibitor
colour in the base of each hair shaft
non- native, wild, allows pigment to be
i inhibited produced normally
changes the pigment production from
O red
native eumelanin to phaomelanin
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native, wild, allows normal production
o non-red
of Eumelanin
slows down the migration of pigment
cells in the forming foetus leaving
S .. spotting
parts of the animal with no pigment
(white)
no- native, wild, allows normal migration of
s ..
spotting pigment cells to cover the entire body.
blocks the production of pigment in
W white the hair shaft leaving a coat with no
pigment
.SC – GCCFGenetics - Nov2011
