Detection of MC1R Genetic Variants and Their Association with Coat Color in Asian Goats

Abstract

In this study, we examined coat color variation in Asian goat populations to elucidate the genetic factors regulating this trait. We specifically investigated the melanocortin 1 receptor gene (MC1R), recognized for its critical role in pigmentation, to identify genetic variants and assess their association with coat color phenotypes. Seven variants were detected within the MC1R gene across the Asian goat populations analyzed. Notably, a novel frameshift mutation unique to the Nepalese goat population, along with two previously reported nonsynonymous substitutions—also identified in other goat populations—were strongly associated with functional alterations of MC1R, indicating a significant role in coat color determination. These findings enhance our understanding of the molecular mechanisms governing pigmentation in mammals.