Genome Analysis of Sable Fur Color Links a Lightened Pigmentation Phenotype to a Frameshift Variant in the Tyrosinase-Related Protein 1 Gene.

ABSTRACT: Sable (Martes zibellina) is one of the most valuable species of fur animals. Wild-type sable fur color varies from sandy-yellow to black. Farm breeding and 90 years of directional selection have resulted in a generation of several sable breeds with a completely black coat color. In 2005, an unusually chocolate (pastel) puppy was born in the Puschkinsky State Fur Farm (Russia). We established that the pastel phenotype was inherited as a Mendelian autosomal recessive trait. We performed whole-genome sequencing of the sables with pastel fur color and identified a frameshift variant in the gene encoding membrane-bound tyrosinase-like enzyme (TYRP1). TYRP1 is involved in the stability of the tyrosinase enzyme and participates in the synthesis of eumelanin. These data represent the

SUBMITTER: Manakhov AD 

PROVIDER: S-EPMC7911072 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature