Population Genetic Analysis of Modern and Ancient DNA Variations Yields New Insights Into the Formation, Genetic Structure, and Phylogenetic Relationship of Northern Han Chinese
Population Genetic Analysis of Modern and Ancient DNA Variations Yields New Insights Into the Formation, Genetic Structure, and Phylogenetic Relationship of Northern Han Chinese
复制标题
DOI：
10.3389/fgene.2019.01045
复制
发表时间：
2019-10-30
影响因子：
3.7
通讯作者：
He, Guanglin
中科院分区：
文献类型：
--
作者：
Chen, Pengyu;Wu, Jian;He, Guanglin
现代东亚人是原住民和从黄河流域和长江流域扩张而来的农民的混合体。线粒体 DNA、Y 染色体变异和常染色体 SNP 证明了东北亚人和东南亚人之间明显的遗传分化和随后的混合。近年来，群体遗传学家越来越关注南方汉族和南方土著群体的遗传多态性和背景。北方汉族的遗传遗产仍然没有特征。因此，我们对现代和古代遗传变异进行了全面的群体遗传分析，旨在对现代汉族的形成以及北方汉族群体的遗传祖先和系统发育关系产生新的见解。我们首先使用新一代华夏白金系统对 3,089 名北方汉族个体的 25 个法医相关标记进行了基因分型。然后，我们通过结合来自 13 个不同考古遗址的 417 名古代个体和 812 名现代个体的线粒体变异，以及来自 12 个类似铁器时代遗址的 114 名古代个体和 2,810 名现代受试者的 Y 染色体变异，进行了首次荟萃分析，重点关注类似于铁器时代古人的亚洲新石器时代人和现代北方汉人之间的遗传亲和力。我们最终对 20 名山西汉族个体的 643,897 个全基因组核苷酸多态性 (SNP) 进行了基因分型，并结合 1,927 个现代人类和 40 个欧亚古人基因组，探索北方汉族的遗传结构和混合。我们通过各种分析探讨了北方汉族的遗传遗产、人口结构和系统发育关系。我们从五个不同的参考数据集中得出的群体遗传结果表明，山西汉族与北方邻居和南方民族关系密切的群体的系统发育关系比与维吾尔族和藏族的关系更密切。全基因组变异显示，现代北方汉族的祖先源自雅库特相关人群（25.2%）和畲族相关人群（74.8%）。总之，导致汉族出现的基因混合发生在很早的时期，可能是在新石器时代，这种混合涉及古代藏缅人口和当地的前汉人人口，这些人口在语言上可能属于阿尔泰语系。
Modern East Asians derived from the admixture of aborigines and incoming farmers expanding from Yellow and Yangtze River Basins. Distinct genetic differentiation and subsequent admixture between Northeast Asians and Southeast Asians subsequently evidenced by the mitochondrial DNA, Y-chromosomal variations, and autosomal SNPs. Recently, population geneticists have paid more attention to the genetic polymorphisms and background of southern-Han Chinese and southern native populations. The genetic legacy of northern-Han remains uncharacterized. Thus, we performed this comprehensive population genetic analyses of modern and ancient genetic variations aiming to yield new insight into the formation of modern Han, and the genetic ancestry and phylogenetic relationship of the northern-Han Chinese population. We first genotyped 25 forensic associated markers in 3,089 northern-Han Chinese individuals using the new-generation of the Huaxia Platinum System. And then we performed the first meta-analysis focused on the genetic affinity between Asian Neolithic similar to Iron Age ancients and modern northern-Han Chinese by combining mitochondrial variations in 417 ancient individuals from 13 different archeological sites and 812 modern individuals, as well as Y-chromosomal variations in 114 ancient individuals from 12 Neolithic similar to Iron Age sites and 2,810 modern subjects. We finally genotyped 643,897 genome-wide nucleotide polymorphisms (SNPs) in 20 Shanxi Han individuals and combined with 1,927 modern humans and 40 Eurasian ancient genomes to explore the genetic structure and admixture of northern-Han Chinese. We addressed genetic legacy, population structure and phylogenetic relationship of northernHan Chinese via various analyses. Our population genetic results from five different reference datasets indicated that Shanxi Han shares a closer phylogenetic relationship with northern-neighbors and southern ethnically close groups than with Uyghur and Tibetan. Genome-wide variations revealed that modern northern-Han derived their ancestry from Yakut-related population (25.2%) and She-related population (74.8%). Summarily, the genetic mixing that led to the emergence of a Han Chinese ethnicity occurred at a very early period, probably in Neolithic times, and this mixing involved an ancient Tibeto-Burman population and a local pre-Sinitic population, which may have been linguistically Altaic.