Kawaguchi Fuki, Shaku Amane, Shah Manoj Kumar, Masangkay Joseph S, Mannen Hideyuki, Sasazaki Shinji
Laboratory of Animal Breeding and Genetics, Graduate School of Agricultural Science, Kobe University, Kobe 657-8501, Japan.
Nepal Agricultural Research Council, Pakhribas 56800, Nepal.
Animals (Basel). 2025 Jul 10;15(14):2026. doi: 10.3390/ani15142026.
Mammals display a wide range of coat colors, with the melanocortin 1 receptor gene () playing a pivotal role in the genetic regulation of pigmentation. In this study, we investigated genetic variants in goat populations from four Asian countries to identify genetic factors associated with coat color variation. The complete coding sequence of was analyzed to detect variants and determine genotypes in goats from Nepal ( = 122), the Philippines ( = 110), Cambodia ( = 30), and Kazakhstan ( = 30). Seven variants were identified, three of which were novel, while four had been previously reported in other goat populations. Among the novel variants, a frameshift mutation (c.147delG) unique to Nepalese goats was predicted to cause substantial disruption of the MC1R protein structure, suggesting its potential role in coat color determination. Additionally, two known missense variants (c.676A > G and c.801C > G) were inferred to affect MC1R function and may contribute to pigmentation variation. Further investigations with larger sample sizes are warranted to clarify the phenotypic effects of these genotypic variants and to better understand the genetic basis of coat color in goats.
哺乳动物表现出广泛的毛色，其中黑皮质素1受体基因（）在色素沉着的遗传调控中起关键作用。在本研究中，我们调查了来自四个亚洲国家的山羊群体中的基因变异，以确定与毛色变异相关的遗传因素。对来自尼泊尔（ = 122）、菲律宾（ = 110）、柬埔寨（ = 30）和哈萨克斯坦（ = 30）的山羊的完整编码序列进行了分析，以检测变异并确定基因型。共鉴定出7个变异，其中3个是新发现的，而另外4个在其他山羊群体中曾有过报道。在新发现的变异中，尼泊尔山羊特有的一个移码突变（c.147delG）预计会导致MC1R蛋白结构的严重破坏，表明其在毛色决定中的潜在作用。此外，两个已知的错义变异（c.676A > G和c.801C > G）被推断会影响MC1R功能，并可能导致色素沉着变异。有必要进行更大样本量的进一步研究，以阐明这些基因型变异的表型效应，并更好地理解山羊毛色的遗传基础。
