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

Sergey N Kashtanov,Pavel A Filimonov,Alexey A Onokhov,Maria Y Mintseva,Irina E Chernova,Andrey D Manakhov,Evgeny I Rogaev,Tatiana V Andreeva

doi:10.3390/genes12020157

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 first reported variant linked to fur color in sables and reveal the molecular genetic basis for pastel color pigmentation. These data are also useful for tracking economically valuable fur traits in sable breeding programs.

Highlights

IntroductionPublisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations
Pastel Fur Color Is Inherited as a Mendelian Autosomal Recessive Trait
The present study described the genetic variant in the TYRP1 gene that resulted in the pastel coat color phenotype in sables

Summary

Introduction

Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. Industrial farming and directional selection have resulted in two sable types that differ in fur pigmentation intensity: black sable and Saltykovskaya 1 (Figure 1) [6]. In 2005, after 90 years of farm breeding in the Puschkinsky State Fur Farm, an unusually brown pastel puppy (No.1601) was born to a pair of black sables (Figure 2a). This was the first sable fur color mutant registered in sable cage breeding. Brown fur color is popular and valuable for another industrially farmed fur animal, the American mink (Neovison vison). We performed a genetic analysis of the inheritance of the pastel fur color trait in sables and searched for genetic factors that determined this phenotype by a whole-genome sequencing approach

Materials and Methods

Pastel Fur Color Is Inherited as a Mendelian Autosomal Recessive Trait

Pastel Fur Color Is a Result of a Frameshift Variant in the TYRP1 Gene

Discussion

Conclusions