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摘要 : 2017年11月15日,国际学术权威刊物自然出版集团旗下子刊《European Journal of Human Genetics》杂志在线发表了中国科学院昆明动物研究所张亚平院士率领的研究团队和新疆医科大学哈木拉提·吾甫尔教授的团队开展合作的一篇研究论文,研究揭示帕米尔人群的源流历史。

2017年11月15日,国际学术权威刊物自然出版集团旗下子刊《European Journal of Human Genetics》杂志在线发表了中国科学院昆明动物研究所张亚平院士率领的研究团队和新疆医科大学哈木拉提·吾甫尔教授的团队开展合作的一篇研究论文,研究揭示帕米尔人群的源流历史。彭旻晟、徐卫芳、宋娇娇和陈兴是为共同第一作者,张亚平研究员和哈木拉提·吾甫尔教授为共同通讯作者。

帕米尔高原(Pamirs),古称“葱岭”,由亚洲腹地的喜马拉雅山脉、兴都库什山山脉、天山山脉和昆仑山脉交汇而成。帕米尔高原平均海拔超过4000米,在1838年被到访的英国探险者John Wood首次赋予了“世界屋脊”(Roof of the World)的称号。尽管具有高寒缺氧等严酷的环境条件,帕米尔高原在历史上是古丝绸之路的重要组成部分,东西人群交流往来频繁。然而,相关的人群源流历史却一直鲜为人知。

为探讨帕米尔高原人群的源流历史,联合研究团队对整个帕米尔高原代表性的色勒库尔塔吉克、瓦罕塔吉克、帕米尔塔吉克和高原柯尔克孜及其周边平原低地人群共计382份样本进行了线粒体DNA(mtDNA)基因组测序。分析结果显示,帕米尔高原人群体现出东西方遗传混合的特征。大多数混合事件发生在末次盛冰期(the Last Glacial Maximum)之后。进一步的分析发现塔吉克人群与柯尔克孜人群之间存在明显的遗传分化。基于近似贝叶斯计算分析的结果揭示人类移居帕米尔高原涉及多次迁移和混合,是一个复杂的过程。通过比较平原人群的mtDNA编码区序列,研究人员未能在高原人群中检出受到选择信号。



Mitochondrial genomes uncover the maternal history of the Pamir populations


The Pamirs, among the world’s highest mountains in Central Asia, are one of homelands with the most extreme high altitude for several ethnic groups. The settlement history of modern humans on the Pamirs remains still opaque. Herein, we have sequenced the mitochondrial DNA (mtDNA) genomes of 382 individuals belonging to eight populations from the Pamirs and the surrounding lowlands in Central Asia. We construct the Central Asian (including both highlanders and lowlanders) mtDNA haplogroup tree at the highest resolution. All the matrilineal components are assigned into the defined mtDNA haplogroups in East and West Eurasians. No basal lineages that directly emanate from the Eurasian founder macrohaplogroups M, N, and R are found. Our data support the origin of Central Asian being the result of East–West Eurasian admixture. The coalescence ages for more than 93% mtDNA lineages in Central Asians are dated after the last glacial maximum (LGM). The post-LGM and/or later dispersals/admixtures play dominant roles in shaping the maternal gene pool of Central Asians. More importantly, our analyses reveal the mtDNA heterogeneity in the Pamir highlanders, not only between the Turkic Kyrgyz and the Indo-European Tajik groups, but also among three highland Tajiks. No evidence supports positive selecion or relaxation of selective constraints in the mtDNAs of highlanders as compared to that of lowlanders. Our results suggest a complex history for the peopling of Pamirs by multiple waves of migrations from various genetic resources during different time scales.

来源: European Journal of Human Gene 浏览次数:0


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