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RahmanZia Ur, 李玉春, 田娇阳, 孔庆鹏. 2020: 线粒体基因信息揭示卡拉什人的欧洲母系组分来源. 动物学研究, 41(5): 552-556. DOI: 10.24272/j.issn.2095-8137.2020.052
引用本文: RahmanZia Ur, 李玉春, 田娇阳, 孔庆鹏. 2020: 线粒体基因信息揭示卡拉什人的欧洲母系组分来源. 动物学研究, 41(5): 552-556. DOI: 10.24272/j.issn.2095-8137.2020.052
Zia Ur Rahman, Yu-Chun Li, Jiao-Yang Tian, Qing-Peng Kong. 2020: Exploring European ancestry among the Kalash population: a mitogenomic perspective. Zoological Research, 41(5): 552-556. DOI: 10.24272/j.issn.2095-8137.2020.052
Citation: Zia Ur Rahman, Yu-Chun Li, Jiao-Yang Tian, Qing-Peng Kong. 2020: Exploring European ancestry among the Kalash population: a mitogenomic perspective. Zoological Research, 41(5): 552-556. DOI: 10.24272/j.issn.2095-8137.2020.052

线粒体基因信息揭示卡拉什人的欧洲母系组分来源

Exploring European ancestry among the Kalash population: a mitogenomic perspective

  • 摘要: 卡拉什人(Kalash people)主要居住在巴基斯坦北部的兴都库什山脉,目前人口仅有约4000人。由于卡拉什人具有白皙皮肤和蓝绿色眼睛,相传是希腊马其顿亚历山大大帝东征军的后裔,因此其起源历史受到了来自不同学科领域的关注。尽管以往的研究基于常染色体和Y染色体数据对卡拉什人的群体历史进行了探讨,但其母系遗传历史的研究主要基于线粒体DNA(mtDNA)高变区或限制性片段长度多态性(RPLF)等有限的信息,导致该民族人群的母系遗传历史尚不清楚。在本研究中,我们系统分析了34个卡拉什人的mtDNA全基因组数据,以及欧亚人群的6075个个体的mtDNA序列信息。结果表明,卡拉什人的8个mtDNA单倍型类群(包括R0a、U4a1、J2b1a、U2e1h、H2a1a、U4b1a4、T2a1a和U2e2a1)均来自于欧亚西部。其中,U4a1、U2e1h、H2a1a、U4b1a4、T2a1a和U2e2a1可能是源自欧亚草原或地中海地区的近期基因流事件。值得注意的是,我们在J2b1a和R0a两个类群中发现了卡拉什人特有的分支(分别是J2b1a1a7和R0a5a,占卡拉什人基因库的~50%),提示这两个类群可能在卡拉什人中发生了独立分化。进一步分析表明,J2b1a1a7和R0a5a的起源可以追溯至欧洲(尤其是地中海区域),并且在卡拉什人中的分化时间为2.26-3.01千年前(kya)。由于该分化时间与亚历山大大帝东征的时间相似,一个可能的解释是,少数女性可能伴随亚历山大大帝东征迁徙进入卡拉什地区,进一步通过建群者效应贡献了卡拉什人的母系基因库。总之,我们的研究表明,来自欧洲的2-3kya的遗传输入,对卡拉什人母系遗传结构的形成起到了重要的作用。

     

    Abstract: With a population of around 4 000 individuals, the Kalash people have been living in the Hindu-Kush mountain valleys of present-day northern Pakistan for centuries. Due to their mysterious origin and fairer European complexion, the genetic history of this ethnic group has been investigated previously using different markers. To date, however, the maternal genetic architecture has not been systematically dissected based on high-resolution complete mitochondrial genomes (mitogenomes), making their maternal genetic history, especially their genetic connection with Europeans from a matrilineal perspective, unclear. To unravel this issue, we analyzed mitogenome data of 34 Kalash samples together with 6 075 individuals from across Eurasia. Our results indicated exclusive western Eurasian origin of the Kalash people, represented by eight haplogroups. Among these haplogroups, J2b1a7a and R0a5a (accounting for ~50% of the Kalash gene pool) displayed in situ differentiations in the Kalash and could be traced to the Mediterranean region. Age estimations suggested these haplogroups arose in the Kalash population ~2.26 and 3.01 thousand years ago (kya), a time frame consistent with the invasion of Alexander III of Macedon to the region. One possible explanation for the maternal genetic contribution from Europeans to the Kalash people would be the involvement of women in foreign campaigns of ancient Greek warfare, followed by a founder effect. Our study thus sheds important light on the genetic origin of the Kalash community of Pakistan.

     

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