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Mocha Colourpoint Variant In Burmese (c^m)
| Acronym: | MOCHA |
| Gene: | TYR |
| Mutation: | c.939delC, c.1204C>T |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Coat color in cats is an important congenital characteristic along with hair length and growth pattern. Coat color is determined by the expression of two melanin pigments, eumelanin (black/brown) and pheomelanin (yellow/red) in a variety of mammalian species including cats. The tyrosinase (TYR) is a gene with a central role in the regulation of coat color determination in various species, including cats, and it is commonly referred to as the C (Colorpoint) Locus. TYR is located in melanocytes, which are specialized cells that produce a pigment called melanin and its mutation causes disruption in regular eumelanin (black pigment) synthesis and results in various phenotypes. Few different variants of the TYR gene have been identified in cats so far that contribute to colorpoint or albino coat colors. Mocha variant that is specific to Burmese cats is caused by a deletion and insertion within the TYR gene resulting in a partly dysfunctional protein depending on the body temperature. Mocha cats exhibit lighter coat color while ears, paws, and tails are more darkly pigmented compared to the body because the enzyme is more active in lower body temperature areas.
The mocha coat color in Burmese cats shows an autosomal recessive mode of inheritance meaning only cats with both mutated variants of the TYR gene will exhibit this light brown color. However, there are other variants of the TYR gene that cause similar phenotypes and the final coat color may also depend on them or variants in other genes responsible for other pigments synthesis. Genetic testing can identify carriers and help breeders in future mating pairs selection.
Results Reported As
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References:
Yu, Y., Grahn, R. A., Lyons, L. A. (2019). Mocha tyrosinase variant: a new flavour of cat coat coloration. Animal genetics, 50(2), 182–186. https://doi.org/10.1111/age.12765
Schmidt-Küntzel, A., Eizirik, E., OBrien, S. J., Menotti-Raymond, M. (2005). Tyrosinase and tyrosinase related protein 1 alleles specify domestic cat coat color phenotypes of the albino and brown loci. The Journal of heredity, 96(4), 289–301. https://doi.org/10.1093/jhered/esi066