Oculocutaneous Albinism (HPS5 gene, Donskoy)

Cats with this trait are characterized by light brown skin, yellow iris and a red eye effect.

Definition

Oculocutaneous albinism in the Donskoy breed manifests as the "pink eye" phenotype, characterized by light brown skin, yellow irises and a red eye effect. This phenotype has been linked to a genetic variant in the HPS5 gene, which encodes a protein involved in the transport and maturation of organelles in melanocytes.

Genetic basis

Inheritance is autosomal recessive, i.e. two copies of the c.2571-1G>A variant are required to express the pink-eyed phenotype. The presence of a single copy of the variant would not result in the expression of the mentioned phenotype, however, it can be transmitted to the offspring of the feline with a 50% probability.

Other relevant information

The genetic variant associated with "pink eyes" has only been identified as responsible for oculocutaneous albinism in the Donskoy breed. In the study by Mériot et al. (2020), 170 cats from 19 different breeds, excluding the Donskoy, were genotyped and none were found to carry the described variant.

Bibliography

Mériot M, Hitte C, Rimbault M, et al. Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene. Pigment Cell Melanoma Res. 2020 Nov;33(6):814-825.