A comprehensive survey of human Y-chromosomal microsatellites
A comprehensive survey of human Y-chromosomal microsatellites
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DOI：
10.1086/421531
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发表时间：
2004-06-01
影响因子：
9.8
通讯作者：
Tyler-Smith, C
中科院分区：
文献类型：
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作者：
Kayser, M;Kittler, R;Tyler-Smith, C
我们筛选了人类Y染色体几乎完整的DNA序列，用于微卫星（短串联重复序列），这些微卫星符合重复单元大小大于或等于3，重复计数大于或等于8的标准，因此很可能容易准确地进行基因分型并具有多态性。候选基因座在计算机上进行了新颖性和可能的Y特异性测试，然后进行了实验测试，以确定Y特异性基因座并评估其多态性。这在代表8个Y- snp单倍群的8条不同Y染色体样本中产生了166个有用的新Y染色体微卫星，其中139个是多态性的。这个大样本的微卫星，连同28个先前已知的标记，在这里分析-所有共享一个共同的进化历史-使我们能够研究影响其变化的因素。对于简单微卫星，平均重复计数占重复方差的比例最高（接近34%）。对于复杂的微卫星，方差的最大比例（同样接近34%）可以用最长均匀阵列的平均重复计数来解释，而这通常是可变的。在这些复杂的微卫星中，最长均匀阵列外的额外重复数显著增加了方差，但这低于相同重复总数的简单微卫星的方差。由于这项工作，大量新的、高度多态性的y染色体微卫星现在可用于群体遗传、进化、家谱和法医调查。
We have screened the nearly complete DNA sequence of the human Y chromosome for microsatellites (short tandem repeats) that meet the criteria of having a repeat-unit size of greater than or equal to3 and a repeat count of greater than or equal to8 and thus are likely to be easy to genotype accurately and to be polymorphic. Candidate loci were tested in silico for novelty and for probable Y specificity, and then they were tested experimentally to identify Y-specific loci and to assess their polymorphism. This yielded 166 useful new Y-chromosomal microsatellites, 139 of which were polymorphic, in a sample of eight diverse Y chromosomes representing eight Y-SNP haplogroups. This large sample of microsatellites, together with 28 previously known markers analyzed here-all sharing a common evolutionary history-allowed us to investigate the factors influencing their variation. For simple microsatellites, the average repeat count accounted for the highest proportion of repeat variance (similar to34%). For complex microsatellites, the largest proportion of the variance (again, similar to34%) was explained by the average repeat count of the longest homogeneous array, which normally is variable. In these complex microsatellites, the additional repeats outside the longest homogeneous array significantly increased the variance, but this was lower than the variance of a simple microsatellite with the same total repeat count. As a result of this work, a large number of new, highly polymorphic Y-chromosomal microsatellites are now available for population-genetic, evolutionary, genealogical, and forensic investigations.