High levels of Y-chromosome differentiation among native Siberian populations and the genetic signature of a boreal hunter-gatherer way of life

High levels of Y-chromosome differentiation among native Siberian populations and the genetic signature of a boreal hunter-gatherer way of life
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DOI:
10.1353/hub.2003.0006
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发表时间:
2002-12-01
期刊:
影响因子:
--
通讯作者:
Hammer, MF
Hammer, MF
中科院分区:
生物学4区
文献类型:
--
作者:
Karafet, TM;Osipova, LP;Hammer, MF

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通过对Y染色体非重组部分(NRY)的遗传变异研究,探讨西伯利亚土著群体父系群体结构,并重建导致西伯利亚人定居的历史事件。对来自18个西伯利亚人群、9个中亚和东亚人群以及1个俄罗斯欧洲地区人群的1432名男性进行了NRY上62个双等位标记的基因分型。这些标记的一个子集定义了18个主要的NRY单倍群(A- r),最近由Y染色体联盟(YCC 2002)描述。虽然这18个主要的NRY单倍群中只有4个占西伯利亚y染色体变异的95%,但西伯利亚本地种群的单倍群组成差异很大,并且显示出世界上任何地区最高的Phi(ST)值。当我们将西伯利亚样本分为四个地理区域和五个主要的语族时,分子方差(AMOVA)分析表明,语族的Phi(ST)和Phi(CT)值高于地理类群。Mantel测试也支持与语言相关的NRY遗传模式的存在,表明语言归属可能比他们目前的地理位置更能预测西伯利亚人之间的遗传亲和力。这些综合结果,包括来自嵌套进化分析的结果,强调了在形成西伯利亚遗传景观的过程中,由共同的种族和语言联系起来的定向分散、范围扩展和长途殖民的重要作用。种群内单倍群多样性减少的西伯利亚模式与种群间的高度分化相结合,可能是有效种群规模较小且被隔离了很长时间的土著群体的一般特征。
We examined genetic variation on the nonrecombining portion of the Y chromosome (NRY) to investigate the paternal population structure of indigenous Siberian groups and to reconstruct the historical events leading to the peopling of Siberia. A set of 62 biallefic markers on the NRY were genotyped in 1432 males representing 18 Siberian populations, as well as nine populations from Central and East Asia and one from European Russia. A subset of these markers defines the 18 major NRY haplogroups (A-R) recently described by the Y Chromosome Consortium (YCC 2002). While only four of these 18 major NRY haplogroups accounted for similar to95% of Siberian Y-chromosome variation, native Siberian populations differed greatly in their haplogroup composition and exhibited the highest Phi(ST) value for any region of the world. When we divided our Siberian sample into four geographic regions versus five major linguistic groupings, analyses of molecular variance (AMOVA) indicated higher Phi(ST) and Phi(CT) values for linguistic groups than for geographic groups. Mantel tests also supported the existence of NRY genetic patterns that were correlated with language, indicating that language affiliation might be a better predictor of the genetic affinity among Siberians than their present geographic position. The combined results, including those from a nested cladistic analysis, underscored the important role of directed dispersals, range expansions, and long-distance colonizations bound by common ethnic and linguistic affiliation in shaping the genetic landscape of Siberia. The Siberian pattern of reduced haplogroup diversity within populations combined with high levels of differentiation among populations may be a general feature characteristic of indigenous groups that have small effective population sizes and that have been isolated for long periods of time.