Large-Scale mtDNA Screening Reveals a Surprising Matrilineal Complexity in East Asia and Its Implications to the Peopling of the Region
Large-Scale mtDNA Screening Reveals a Surprising Matrilineal Complexity in East Asia and Its Implications to the Peopling of the Region
复制标题
大规模 mtDNA 筛查揭示了东亚令人惊讶的母系复杂性及其对该地区人民的影响
DOI：
10.1093/molbev/msq219
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发表时间：
2011-01-01
影响因子：
10.7
通讯作者：
Zhang, Ya-Ping
中科院分区：
文献类型：
--
作者：
Kong, Qing-Peng;Sun, Chang;Zhang, Ya-Ping
为了全面覆盖中国母系群体的基底谱系，我们对来自中国84个人群的6,093个mtDNA的控制区和部分编码区进行了测序。通过与已获得的mtDNA全序列比较，发现其中194个mtDNA不能完全归属于已获得的单倍型群。从这些未分类的mtDNA中选出的51个代表进行了完全测序，确定了一些新的谱系，包括5个新的基础单倍型群，它们直接来自欧亚创始节点（M和N）。没有观察到来自古代原始人类的母系贡献。随后的分析表明，这些新发现的基础谱系可能代表了最初居住在东亚的现代人类的遗传遗迹，而不是来自邻近地区的基因流动的结果。大多数新发现的mtDNA谱系已经分化，并在中国南方显示出最高的遗传多样性，这一观察为东亚人的南线居住假说提供了额外的证据。特别是中国南方大部分基底谱系的富集和晚更新世相当古老的年代进一步表明，该地区可能是现代人类进入东亚后的遗传库。
In order to achieve a thorough coverage of the basal lineages in the Chinese matrilineal pool, we have sequenced the mitochondrial DNA (mtDNA) control region and partial coding region segments of 6,093 mtDNAs sampled from 84 populations across China. By comparing with the available complete mtDNA sequences, 194 of those mtDNAs could not be firmly assigned into the available haplogroups. Completely sequencing 51 representatives selected from these unclassified mtDNAs identified a number of novel lineages, including five novel basal haplogroups that directly emanate from the Eurasian founder nodes (M and N). No matrilineal contribution from the archaic hominid was observed. Subsequent analyses suggested that these newly identified basal lineages likely represent the genetic relics of modern humans initially peopling East Asia instead of being the results of gene flow from the neighboring regions. The observation that most of the newly recognized mtDNA lineages have already differentiated and show the highest genetic diversity in southern China provided additional evidence in support of the Southern Route peopling hypothesis of East Asians. Specifically, the enrichment of most of the basal lineages in southern China and their rather ancient ages in Late Pleistocene further suggested that this region was likely the genetic reservoir of modern humans after they entered East Asia.