Coat color is one of the important factors characterizing breeds for domestic animals. Melanocortin 1 receptor (MC1R) is a representative responsible gene for this phenotype. Two single‐nucleotide polymorphisms (SNPs) in bovine MC1R gene, c.296T > C and c.310G>‐, have been well characterized, but these SNPs are not enough to explain cattle coat color. As far as we know, MC1R genotypes of Kumamoto sub‐breed of Japanese Brown cattle have not been analyzed. In the current study, genotyping for c.296T > C and c.310G>‐ was performed to elucidate the role of MC1R in determining the coat color of this sub‐breed. As a result, most animals were e/e genotype, suggesting the coat color of this sub‐breed is derived from the e allele of MC1R gene. However, we found six animals with E/e genotype, which coat color would be black theoretically. Subsequently, sequence comparison was performed with these animals to identify other polymorphisms affecting coat color, elucidating that these animals possessed the A allele of c.871G > A commonly. c.871G > A was a non‐synonymous mutation in the seventh transmembrane domain, suggesting alteration of the function and/or the structure of MC1R protein. Our data indicated that the A allele of c.871G > A might be a loss‐of‐function mutation.

中文翻译：

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MC1R c.310G>- 和 c.871G > A 决定了日本棕牛熊本亚种的毛色。

毛色是表征家畜品种的重要因素之一。黑皮质素 1 受体 (MC1R)是该表型的代表性负责基因。牛MC1R基因中的两个单核苷酸多态性 (SNP) ，c.296T > C 和 c.310G>-，已得到很好的表征，但这些 SNP 不足以解释牛毛色。据我们所知，尚未对日本棕牛熊本亚品种的MC1R基因型进行分析。在当前的研究中，对 c.296T > C 和 c.310G>- 进行了基因分型，以阐明MC1R在决定该亚种毛色中的作用。结果，大多数动物都是e / e基因型，表明该亚种的毛色来源于MC1R基因的e等位基因。然而，我们发现了 6 只具有E / e基因型的动物，理论上它们的毛色应该是黑色的。随后，对这些动物进行序列比较以确定影响毛色的其他多态性，阐明这些动物通常具有 c.871G > A 的 A 等位基因。c.871G > A 是第七个跨膜结构域的非同义突变，表明 MC1R 蛋白的功能和/或结构发生了改变。我们的数据表明 c.871G > A 的 A 等位基因可能是功能丧失突变。