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Complete Albinism (Variants c and c2)
| Acronym: | ALBINISM |
| 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 detected in cats so far that contribute to colorpoint or albino coat colors. The Albino variant is characterized by a lack of pigment in hair, skin, and eyes, and two mutations that cause it have been identified in cats – a single base pair deletion and a single base pair change. Albino cats exhibit a completely white coat color with blue eyes as a result of a completely inactive protein.
Albino in cats shows an autosomal recessive mode of inheritance meaning only cats with both mutated variants of the TYR gene will exhibit white coat 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:
Abitbol, M., Bossé, P., Grimard, B., Martignat, L., Tiret, L. (2017). Allelic heterogeneity of albinism in the domestic cat. Animal genetics, 48(1), 127–128. https://doi.org/10.1111/age.12503
Imes, D. L., Geary, L. A., Grahn, R. A., Lyons, L. A. (2006). Albinism in the domestic cat (Felis catus) is associated with a tyrosinase (TYR) mutation. Animal genetics, 37(2), 175–178. https://doi.org/10.1111/j.1365-2052.2005.01409.x
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