Novel Y-chromosome polymorphisms in Chinese domestic yak
Novel Y-chromosome polymorphisms in Chinese domestic yak
复制标题
中国家牦牛Y染色体新多态性
DOI：
10.1111/age.12139
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发表时间：
2014-06-01
期刊：
影响因子：
2.4
通讯作者：
Lei, C. -Z.
中科院分区：
文献类型：
--
作者：
Li, R.;Wang, S. -Q.;Lei, C. -Z.
利用单核苷酸多态性（Y-SNPs）构建的y染色体特异性单倍型（Y-haplotypes）在群体遗传研究中具有重要价值。但迄今为止，牦牛MSY地区的序列变异特征尚不明确。本研究从ZFY、SRY、UTY、USP9Y、AMELY和OFD1Y基因中筛选了16个y染色体特异性基因片段，鉴定了家牦牛的y - snp。在USP9Y （G . 223c >T）、UTY19 （G . 158a >C和G . 169c >T）、AMELY2 （G . 261c >T）、OFD1Y9 （G . 165a >G）和SRY4 （G . 104g >A）位点发现了6个新的y - snp，可以定义牦牛的3种y -单倍型（YH1、YH2和YH3）。根据UTY19位点与其他牛科物种的比较，YH1是显性的，可能是最古老的单倍型。有趣的是，我们发现信息丰富的UTY19标记（g.158A>C和g.169C>T）可以有效区分三种牦牛y -单倍型。核苷酸多样性为1.7x10(-4)+/- 0.3x10(-4)，表明牦牛y染色体多样性丰富。我们确定了两个高度分化的谱系（YH1和YH2 vs. YH3），它们在所有三个人群中具有相似的频率（YH1+ YH2: 0.82-0.89, YH3: 0.11-0.18）。与之前的mtDNA研究一致，我们支持两个高度分化的谱系（YH1和YH2 vs. YH3）来自一个基因库的假设，这可以解释为至少两个父系群体在驯化前已经积累了分化的谱系的团聚。我们估计这两个不同谱系之间的分化时间为408110年，这与牦牛线粒体DNA的数据一致。
Y-chromosome-specific haplotypes (Y-haplotypes) constructed using single nucleotide polymorphisms (Y-SNPs) in the MSY (male-specific region of the Y-chromosome) are valuable in population genetic studies. But sequence variants in the yak MSY region have been poorly characterized so far. In this study, we screened a total of 16 Y-chromosome-specific gene segments from the ZFY, SRY, UTY, USP9Y, AMELY and OFD1Y genes to identify Y-SNPs in domestic yaks. Six novel Y-SNPs distributed in the USP9Y (g.223C>T), UTY19 (g.158A>C and g.169C>T), AMELY2 (g.261C>T), OFD1Y9 (g.165A>G) and SRY4 (g.104G>A) loci, which can define three Y-haplotypes (YH1, YH2 and YH3) in yaks, were discovered. YH1 was the dominant and presumably most ancient haplotype based on the comparison of UTY19 locus with other bovid species. Interestingly, we found informative UTY19 markers (g.158A>C and g.169C>T) that can effectively distinguish the three yak Y-haplotypes. The nucleotide diversity was 1.7x10(-4)+/- 0.3x10(-4), indicating rich Y-chromosome diversity in yaks. We identified two highly divergent lineages (YH1 and YH2 vs. YH3) that share similar frequencies (YH1+ YH2: 0.82-0.89, YH3: 0.11-0.18) among all three populations. In agreement with previous mtDNA studies, we supported the hypothesis that the two highly divergent lineages (YH1 and YH2 vs. YH3) derived from a single gene pool, which can be explained by the reunion of at least two paternal populations with the divergent lineages already accumulated before domestication. We estimated a divergence time of 408110years between the two divergent lineages, which is consistent with the data from mitochondrial DNA in yaks.