Article
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 research - 1 Nov 2020
Mériot Marina, Hitte Christophe, Rimbault Maud, Dufaure de Citres Caroline, Gache Vincent, Abitbol Marie
Abstract excerpt
In the feline Donskoy breed, a phenotype that breeders call "pink-eye," with associated light-brown skin, yellow irises and red-eye effect, has been described. Genealogical data indicated an autosomal recessive inheritance pattern. A single candidate region was identified by genome-wide association study and SNP-based homozygosity mapping. Within that region, we further identified HPS5 (HPS5 Biogenesis Of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.