Extended Y Chromosome Investigation Suggests Postglacial Migrations of Modern Humans into East Asia via the Northern Route
Extended Y Chromosome Investigation Suggests Postglacial Migrations of Modern Humans into East Asia via the Northern Route
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扩展的 Y 染色体研究表明现代人类通过北方路线迁徙到东亚
DOI：
10.1093/molbev/msq247
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发表时间：
2011-01-01
影响因子：
10.7
通讯作者：
Ma, Runlin Z.
中科院分区：
文献类型：
--
作者：
Zhong, Hua;Shi, Hong;Ma, Runlin Z.
来自Y染色体和线粒体DNA的遗传多样性数据以及最近的全基因组常染色体单核苷酸多态性数据表明，东南亚大陆是东亚人口的主要地理来源。然而，这些研究也在东亚发现了与中亚-南亚(CSA)和/或西亚(WE)相关的遗传成分，这意味着要么是最近的人口混杂，要么是通过拟议的北部路线进行的古代迁徙。为了追踪这些CsA和WE相关遗传成分的时间段和地理来源，我们采集了3,826名男性样本(来自中国的116个群体和来自朝鲜的1个群体)，并根据良好的Y染色体系统发育进行了高分辨率的基因分型。我们的数据结合已发表的东亚Y单倍群数据显示，东亚南部和北部人群中都存在四个优势单倍群(占东亚Y染色体的92.87%)，即O-M175、D-M174、C-M130(不包括C5-M356)和N-M231，这与东亚现代人类起源的南方路线是一致的。然而，在东亚北部人群中发现了其他单倍群(E-SRY4064、C5-M356、G-M201、H-M69、I-M170、J-P209、L-M20、Q-M242、R-M207和T-M70)，占总数的6.79%，根据系统地理分析，它们被鉴定为中亚-南亚和/或西亚起源。特别是，地理分布和Y染色体短串联重复序列(Y-STR)多样性的证据表明，单倍群Q-M242(美洲原住民特有的单倍群Q1a3a-M3的祖先单倍群)和R-M207可能通过北方路线迁徙到东亚。单倍群内Y-STR变异的年龄估计表明，存在冰后期(类似于18kA)通过北线的迁徙以及近代(类似于3kA)的种群混合。我们认为，尽管旧石器时代通过南部路线的迁徙在东亚现代人类聚落中发挥了重要作用，但我们也有古老的贡献，尽管有限，这在一定程度上解释了目前东亚南部和北部人口之间的遗传差异。
Genetic diversity data, from Y chromosome and mitochondrial DNA as well as recent genome-wide autosomal single nucleotide polymorphisms, suggested that mainland Southeast Asia was the major geographic source of East Asian populations. However, these studies also detected Central-South Asia (CSA)- and/or West Eurasia (WE)-related genetic components in East Asia, implying either recent population admixture or ancient migrations via the proposed northern route. To trace the time period and geographic source of these CSA- and WE-related genetic components, we sampled 3,826 males (116 populations from China and 1 population from North Korea) and performed high-resolution genotyping according to the well-resolved Y chromosome phylogeny. Our data, in combination with the published East Asian Y-haplogroup data, show that there are four dominant haplogroups (accounting for 92.87% of the East Asian Y chromosomes), O-M175, D-M174, C-M130 (not including C5-M356), and N-M231, in both southern and northern East Asian populations, which is consistent with the proposed southern route of modern human origin in East Asia. However, there are other haplogroups (6.79% in total) (E-SRY4064, C5-M356, G-M201, H-M69, I-M170, J-P209, L-M20, Q-M242, R-M207, and T-M70) detected primarily in northern East Asian populations and were identified as Central-South Asian and/or West Eurasian origin based on the phylogeographic analysis. In particular, evidence of geographic distribution and Y chromosome short tandem repeat (Y-STR) diversity indicates that haplogroup Q-M242 (the ancestral haplogroup of the native American-specific haplogroup Q1a3a-M3) and R-M207 probably migrated into East Asia via the northern route. The age estimation of Y-STR variation within haplogroups suggests the existence of postglacial (similar to 18 Ka) migrations via the northern route as well as recent (similar to 3 Ka) population admixture. We propose that although the Paleolithic migrations via the southern route played a major role in modern human settlement in East Asia, there are ancient contributions, though limited, from WE, which partly explain the genetic divergence between current southern and northern East Asian populations.