Demographic History and Genetic Adaptation in the Himalayan Region Inferred from Genome-Wide SNP Genotypes of 49 Populations.
Demographic History and Genetic Adaptation in the Himalayan Region Inferred from Genome-Wide SNP Genotypes of 49 Populations.
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DOI：
10.1093/molbev/msy094
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发表时间：
2018-08-01
影响因子：
10.7
通讯作者：
Tyler-Smith C
中科院分区：
文献类型：
--
作者：
Arciero E;Kraaijenbrink T;Asan;Haber M;Mezzavilla M;Ayub Q;Wang W;Pingcuo Z;Yang H;Wang J;Jobling MA;van Driem G;Xue Y;de Knijff P;Tyler-Smith C
我们对来自尼泊尔、不丹、北印度或西藏的 49 个人群的 738 名个体进行了超过 500,000 个 SNP 的基因分型，并在现有的全球人口数据的背景下分析了基因型，以调查该地区的人口历史和对恶劣环境的遗传适应。喜马拉雅地区的人口与其他南亚和东亚人相似，但除此之外还表现出自己特定的祖先成分，并表现出强大的人口结构和遗传漂变。我们还发现了 200 至 2000 年前涉及喜马拉雅人群和南亚/东亚人的多次混合事件的证据。与现有的古代基因组相比，喜马拉雅人与其他东亚和南亚人群一样，与欧亚狩猎采集者（24,000年前旧石器时代晚期的西伯利亚人）以及相关的青铜时代颜那雅人表现出相似的遗传亲和力。喜马拉雅高海拔地区的人群都具有特定的祖先成分，这表明对高海拔生活的遗传适应仅在该地区起源过一次，随后传播开来。结合四种方法来识别特定的正选位点，我们证实最强的高海拔适应信号位于包含内皮 PAS 结构域的蛋白 1 和 Egl-9 家族缺氧诱导因子 1 位点附近，并发现了另外 8 个强效的高海拔适应信号，其中 5 个与这种适应具有很强的生物功能联系。总之，喜马拉雅人口的人口历史是复杂的，具有很强的地方差异，反映了遗传和文化因素；这些种群还表现出对高海拔环境的多种遗传适应的证据。
We genotyped 738 individuals belonging to 49 populations from Nepal, Bhutan, North India, or Tibet at over 500,000 SNPs, and analyzed the genotypes in the context of available worldwide population data in order to investigate the demographic history of the region and the genetic adaptations to the harsh environment. The Himalayan populations resembled other South and East Asians, but in addition displayed their own specific ancestral component and showed strong population structure and genetic drift. We also found evidence for multiple admixture events involving Himalayan populations and South/East Asians between 200 and 2,000 years ago. In comparisons with available ancient genomes, the Himalayans, like other East and South Asian populations, showed similar genetic affinity to Eurasian hunter-gatherers (a 24,000-year-old Upper Palaeolithic Siberian), and the related Bronze Age Yamnaya. The high-altitude Himalayan populations all shared a specific ancestral component, suggesting that genetic adaptation to life at high altitude originated only once in this region and subsequently spread. Combining four approaches to identifying specific positively selected loci, we confirmed that the strongest signals of high-altitude adaptation were located near the Endothelial PAS domain-containing protein 1 and Egl-9 Family Hypoxia Inducible Factor 1 loci, and discovered eight additional robust signals of high-altitude adaptation, five of which have strong biological functional links to such adaptation. In conclusion, the demographic history of Himalayan populations is complex, with strong local differentiation, reflecting both genetic and cultural factors; these populations also display evidence of multiple genetic adaptations to high-altitude environments.
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影响因子：
2.8
作者：
Fenner, JN
通讯作者：
Fenner, JN
DOI：
10.1073/pnas.1002443107
发表时间：
2010-06-22
影响因子：
11.1
作者：
Beall, Cynthia M.;Cavalleri, Gianpiero L.;Zheng, Yong Tang
通讯作者：
Zheng, Yong Tang
影响因子：
3.3
作者：
Coop, Graham;Witonsky, David;Pritchard, Jonathan K.
通讯作者：
Pritchard, Jonathan K.
夏尔巴省和邻近尼泊尔人口中的遗传结构。
影响因子：
4.4
作者：
Cole AM;Cox S;Jeong C;Petousi N;Aryal DR;Droma Y;Hanaoka M;Ota M;Kobayashi N;Gasparini P;Montgomery H;Robbins P;Di Rienzo A;Cavalleri GL
通讯作者：
Cavalleri GL
影响因子：
10.7
作者：
Chaubey G;Metspalu M;Choi Y;Mägi R;Romero IG;Soares P;van Oven M;Behar DM;Rootsi S;Hudjashov G;Mallick CB;Karmin M;Nelis M;Parik J;Reddy AG;Metspalu E;van Driem G;Xue Y;Tyler-Smith C;Thangaraj K;Singh L;Remm M;Richards MB;Lahr MM;Kayser M;Villems R;Kivisild T
通讯作者：
Kivisild T