학술논문

De novo mutation of KIT causes extensive coat white patterning in a family of Berber horses.
Document Type
Article
Source
Animal Genetics. Feb2021, Vol. 52 Issue 1, p135-137. 3p.
Subject
*HORSES
*COAT proteins (Viruses)
*CYTOSKELETAL proteins
*WHITE spot syndrome virus
Language
ISSN
0268-9146
Abstract
The mammalian KIT Proto-Oncogene Receptor Tyrosine Kinase ( I KIT i ) gene encodes a tyrosine kinase receptor directing cellular processes such as growth, proliferation and migration of melanocytes.1 I KIT i mutations cause depigmented skin and hair phenotypes in diverse species, with several producing a Dominant White phenotype.2 In horses, over 29 polymorphisms involving the I KIT i gene are reported with phenotypes ranging from small areas of depigmentation to white over the entire body.3 There are no documented studies of health issues for horses with a single copy of a W variant, although early embryonic lethality is predicted for some homozygotes and compound heterozygotes based on similar variants in model species.4 A Berber stallion and two offspring exhibiting greater than 90% skin depigmentation, with white body hair and depigmented skin around the eyes and muzzle (Fig. The I W30 i mutation leads to a loss of protein function correlated with the dominant white phenotype observed in the stallion and its offspring. [Extracted from the article]