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在中国本地品种中 基因四个错义突变的分布。

The distribution of four missense mutations in gene across native Chinese breeds.

机构信息

College of Veterinary Medicine, Northwest A&F University, Yangling, Shaanxi, China.

Yunnan Academy of Grassland Animal Science, Kunming, China.

出版信息

Anim Biotechnol. 2022 Aug;33(4):796-800. doi: 10.1080/10495398.2020.1831521. Epub 2020 Oct 16.

DOI:10.1080/10495398.2020.1831521
PMID:33063596
Abstract

Modern cattle belong to two subspecies, and . Since divergence, cattle types have accumulated different genetic variations, which have contributed to highly differentiated phenotypes. The mammalian inner ear possesses functional and morphological innovations that contribute to its unique hearing capacities. The () gene has been shown to play an important function in the inner ear. Four missense mutations: rs522333459 (c.7232G > C:p.Cys2411Ser), rs718838405 (c.6568A > C:p.Met2190Leu), rs516536785 (c.6283C > T:p.Leu2095Phe) and rs480278206 (c.4201T > C:p.Cys1401Arg) were identified in the bovine gene by whole genome resequencing (http://animal.nwsuaf.edu.cn/code/index.php/BosVar), which might be candidate mutations related with hearing of both taurine and indicine cattle. In our study, PCR and DNA sequencing were used to explore the allele frequencies of four mutations of 971 individuals belonging to 38 native Chinese cattle breeds. We find that four mutant alleles showing strong geographic distribution, consisting with the ancestry distribution of taurine and indicine in China. In addition, we identified four mutations of were diverged in taurine and indicine cattle showing signatures of adaptive evolution in two subspecies, which might participate in bovine inner ear development.

摘要

现代牛属于两个亚种, 和 。自分化以来,牛的类型积累了不同的遗传变异,这促成了高度分化的表型。哺乳动物内耳具有功能和形态上的创新,有助于其独特的听力能力。 ()基因已被证明在内耳中具有重要功能。四个错义突变:rs522333459(c.7232G > C:p.Cys2411Ser)、rs718838405(c.6568A > C:p.Met2190Leu)、rs516536785(c.6283C > T:p.Leu2095Phe)和 rs480278206(c.4201T > C:p.Cys1401Arg)在牛的 基因中通过全基因组重测序(http://animal.nwsuaf.edu.cn/code/index.php/BosVar)被鉴定出来,这些突变可能是与瘤牛和水牛听力相关的候选突变。在我们的研究中,使用 PCR 和 DNA 测序技术探讨了 38 个中国本土牛品种的 971 个个体中四个突变的等位基因频率。我们发现,四个突变等位基因显示出强烈的地理分布,与中国瘤牛和水牛的祖先分布一致。此外,我们发现 是在瘤牛和水牛中分化的,在两个亚种中表现出适应性进化的特征,可能参与牛内耳的发育。

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