River Valleys Shaped the Maternal Genetic Landscape of Han Chinese
River Valleys Shaped the Maternal Genetic Landscape of Han Chinese
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DOI：
10.1093/molbev/msz072
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发表时间：
2019-08-01
影响因子：
10.7
通讯作者：
Kong, Qing-Peng
中科院分区：
文献类型：
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作者：
Li, Yu-Chun;Ye, Wei-Jian;Kong, Qing-Peng
在以前的研究中，已经观察到汉族人之间普遍存在着南北遗传差异。然而，这些研究，特别是关于线粒体DNA(MtDNA)的研究，要么基于mtDNA的部分序列，要么基于有限的样本。鉴于汉族人是世界上最大的人口，居住在整个中国周围，在考虑所有地区人口后，是否能观察到南北分化仍是未知的。此外，影响汉族人遗传格局的因素还需要进一步研究。在这项研究中，我们通过研究来自中国几乎所有省份的21,668份汉族样本中的4,004个mtDNA单倍组定义变异来解剖中国汉族人的母系格局。我们的结果证实了南方和北方汉族群体之间的遗传分化。然而，我们发现来自长江、黄河和珠江三个主要水系的种群之间存在显著的遗传分化，这在很大程度上是由于D4、B4和M7单倍群在这些流域中的普遍分布。基于4986个有丝分裂基因组的进一步分析，包括218个新产生的序列，表明这种分歧在全新世早期就已经建立，可能是这些河流沿线古代农业促进的人口扩张的结果。这些结果表明，当代汉族人群的母体基因库保留了来自不同流域的新石器时代早期农民的遗传印记，或者河流流域代表了促进遗传分化的相对迁徙障碍，从而突出了三大古代农业在塑造汉族遗传格局中的重要性。
A general south-north genetic divergence has been observed among Han Chinese in previous studies. However, these studies, especially those on mitochondrial DNA (mtDNA), are based either on partial mtDNA sequences or on limited samples. Given that Han Chinese comprise the world's largest population and reside around the whole China, whether the north-south divergence can be observed after all regional populations are considered remains unknown. Moreover, factors involved in shaping the genetic landscape of Han Chinese need further investigation. In this study, we dissected the matrilineal landscape of Han Chinese by studying 4,004 mtDNA haplogroup-defining variants in 21,668 Han samples from virtually all provinces in China. Our results confirmed the genetic divergence between southern and northern Han populations. However, we found a significant genetic divergence among populations from the three main river systems, that is, the Yangtze, the Yellow, and the Zhujiang (Pearl) rivers, which largely attributed to the prevalent distribution of haplogroups D4, B4, and M7 in these river valleys. Further analyses based on 4,986 mitogenomes, including 218 newly generated sequences, indicated that this divergence was already established during the early Holocene and may have resulted from population expansion facilitated by ancient agricultures along these rivers. These results imply that the maternal gene pools of the contemporary Han populations have retained the genetic imprint of early Neolithic farmers from different river basins, or that river valleys represented relative migration barriers that facilitated genetic differentiation, thus highlighting the importance of the three ancient agricultures in shaping the genetic landscape of the Han Chinese.