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解析37个亚洲人群中正选择的私有和共享特征。

Characterising private and shared signatures of positive selection in 37 Asian populations.

作者信息

Liu Xuanyao, Lu Dongsheng, Saw Woei-Yuh, Shaw Philip J, Wangkumhang Pongsakorn, Ngamphiw Chumpol, Fucharoen Suthat, Lert-Itthiporn Worachart, Chin-Inmanu Kwanrutai, Chau Tran Nguyen Bich, Anders Katie, Kasturiratne Anuradhani, de Silva H Janaka, Katsuya Tomohiro, Kimura Ryosuke, Nabika Toru, Ohkubo Takayoshi, Tabara Yasuharu, Takeuchi Fumihiko, Yamamoto Ken, Yokota Mitsuhiro, Mamatyusupu Dolikun, Yang Wenjun, Chung Yeun-Jun, Jin Li, Hoh Boon-Peng, Wickremasinghe Ananda R, Ong RickTwee-Hee, Khor Chiea-Chuen, Dunstan Sarah J, Simmons Cameron, Tongsima Sissades, Suriyaphol Prapat, Kato Norihiro, Xu Shuhua, Teo Yik-Ying

机构信息

NUS Graduate School for Integrative Science and Engineering, National University of Singapore, Singapore, Singapore.

Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.

出版信息

Eur J Hum Genet. 2017 Apr;25(4):499-508. doi: 10.1038/ejhg.2016.181. Epub 2017 Jan 18.

Abstract

The Asian Diversity Project (ADP) assembled 37 cosmopolitan and ethnic minority populations in Asia that have been densely genotyped across over half a million markers to study patterns of genetic diversity and positive natural selection. We performed population structure analyses of the ADP populations and divided these populations into four major groups based on their genographic information. By applying a highly sensitive algorithm haploPS to locate genomic signatures of positive selection, 140 distinct genomic regions exhibiting evidence of positive selection in at least one population were identified. We examined the extent of signal sharing for regions that were selected in multiple populations and observed that populations clustered in a similar fashion to that of how the ancestry clades were phylogenetically defined. In particular, populations predominantly located in South Asia underwent considerably different adaptation as compared with populations from the other geographical regions. Signatures of positive selection present in multiple geographical regions were predicted to be older and have emerged prior to the separation of the populations in the different regions. In contrast, selection signals present in a single population group tended to be of lower frequencies and thus can be attributed to recent evolutionary events.

摘要

亚洲多样性项目(ADP)汇集了亚洲37个世界性和少数民族群体,这些群体已针对超过50万个标记进行了密集基因分型,以研究遗传多样性模式和正向自然选择。我们对ADP群体进行了群体结构分析,并根据其地理信息将这些群体分为四大类。通过应用一种高度敏感的算法haploPS来定位正向选择的基因组特征,确定了140个在至少一个群体中表现出正向选择证据的不同基因组区域。我们研究了在多个群体中被选择的区域的信号共享程度,并观察到群体聚类的方式与祖先分支在系统发育上的定义方式相似。特别是,与其他地理区域的群体相比,主要位于南亚的群体经历了截然不同的适应性变化。预计存在于多个地理区域的正向选择特征更为古老,且在不同区域的群体分离之前就已出现。相比之下,存在于单个群体组中的选择信号频率往往较低,因此可归因于近期的进化事件。

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