Faculty of Animal Science and Technology, Yunnan Agricultural University, Kunming 650201, China.
Gene. 2012 May 1;498(2):259-63. doi: 10.1016/j.gene.2012.02.041. Epub 2012 Feb 25.
The Chinese yakow is the offspring of yak (Bos grunniens) and Yellow cattle (Bos taurus). The melanocortin 1receptor gene (MC1R) plays a crucial role in determining coat colour of mammals. To investigate the relationship of polymorphism of the MC1R with coat colour in the Chinese yakow, the coding sequence (CDS) and the flanking region of MC1R were sequenced from 84 Chinese yakow samples and compared with the sequences of the MC1R from other bovid species. A fragment of 1134 base pair (bp) sequences including the full CDS (954bp) and parts of the 5'- and 3'-untranslated regions (162 and 18bp, respectively) of the Chineseyakow MC1R were obtained. A total of 13 single nucleotide polymorphisms (SNPs) including 4 SNPs (T-129C, A-127C, C-106T, G-1A) in the 5'-untranslated region and 9 SNPs (C201T, T206C, C340A, C375T, T663C, G714C, C870T, G871A and T890C) in the CDS were identified, revealing high genetic variability. Four novel SNPs including T206C, G714C, C870T and T890C, which have not been reported previously in bovid species, were retrieved. Within 9 coding SNPs, C201T, C375T, T663C and C870T were silent mutations, while T206C, C340A, G714C, G871A and T890C were mis-sense mutations, corresponding to amino acid changes p.L69P, p.Q114K, p.K238N, p.A291N and p.I297T, respectively. Amino acid sequences alignment showed a more than 96% similarity with other ruminates. However, three classical bovine MC1R loci the E(D), E(+) and e were not retrieved in the Chinese yakow, indicating other genes or factors could be involved in affecting coat colour in this species.
中国耗牛是牦牛（Bos grunniens）和黄牛（Bos taurus）的后代。黑素皮质素 1 受体基因（MC1R）在决定哺乳动物的毛色中起着关键作用。为了研究 MC1R 多态性与中国耗牛毛色的关系，从 84 头中国耗牛样本中测序了 MC1R 的编码序列（CDS）和侧翼区，并与其他反刍动物的 MC1R 序列进行了比较。获得了包括完整 CDS（954bp）和部分 5'-和 3'-非翻译区（分别为 162 和 18bp）的 1134 个碱基对（bp）序列的片段。总共发现了 13 个单核苷酸多态性（SNP），包括 5'-非翻译区的 4 个 SNP（T-129C、A-127C、C-106T、G-1A）和 CDS 中的 9 个 SNP（C201T、T206C、C340A、C375T、T663C、G714C、C870T、G871A 和 T890C），表明遗传多样性很高。发现了 4 个新的 SNP，包括 T206C、G714C、C870T 和 T890C，这些 SNP 以前在反刍动物中没有报道过。在 9 个编码 SNP 中，C201T、C375T、T663C 和 C870T 是沉默突变，而 T206C、C340A、G714C、G871A 和 T890C 是错义突变，分别对应于氨基酸变化 p.L69P、p.Q114K、p.K238N、p.A291N 和 p.I297T。氨基酸序列比对显示与其他反刍动物的相似度超过 96%。然而，在中国耗牛中没有发现三个经典的牛 MC1R 位点 E(D)、E(+)和 e，这表明其他基因或因素可能参与影响该物种的毛色。
