Genomic diversity and post-admixture adaptation in the Uyghurs.
Genomic diversity and post-admixture adaptation in the Uyghurs.
复制标题
维吾尔族的基因组多样性和混合后适应
DOI：
10.1093/nsr/nwab124
复制
发表时间：
2022-03
影响因子：
20.6
通讯作者：
Xu S
中科院分区：
文献类型：
--
作者：
Pan Y;Zhang C;Lu Y;Ning Z;Lu D;Gao Y;Zhao X;Yang Y;Guan Y;Mamatyusupu D;Xu S
摘要群体混合导致来自不同祖先的不同祖先群体的遗传变异在全基因组范围内组合，从而为理解人类表型变异的遗传决定因素提供了独特的机会。在这里，我们使用92个高覆盖率(30-60×)个体的全基因组测序系统地研究了生活在新疆的维吾尔族中国(新疆)的基因组多样性。与其祖先源群体相比，XJU群体表现出更大的遗传多样性，特别是稀有变异的比例更高，相应地表现出更大的表型多样性。混合剂诱导的EDAR功能变异与XJU面部形态的多样性有关。有趣的是，SLC24A5和OCA2之间的功能变异的相互作用可能会影响皮肤色素沉着的多样性。值得注意的是，在几个祖先有明显偏见的基因中，选择似乎已经放松或取消，例如HERC2-OCA2。此外，还确定了XJU混合后适应的特征，包括与新陈代谢(例如，CYP2D6)、消化(例如，COL11A1)、嗅觉(例如，ANO2)和免疫(例如，人类白细胞抗原)相关的基因。我们的结果表明，种群混合在局部或全球范围内是塑造人类遗传和表型多样性以及适应性进化的驱动力。
Abstract Population admixture results in genome-wide combinations of genetic variants derived from different ancestral populations of distinct ancestry, thus providing a unique opportunity for understanding the genetic determinants of phenotypic variation in humans. Here, we used whole-genome sequencing of 92 individuals with high coverage (30–60×) to systematically investigate genomic diversity in the Uyghurs living in Xinjiang, China (XJU), an admixed population of both European-like and East-Asian-like ancestry. The XJU population shows greater genetic diversity, especially a higher proportion of rare variants, compared with their ancestral source populations, corresponding to greater phenotypic diversity of XJU. Admixture-induced functional variants in EDAR were associated with the diversity of facial morphology in XJU. Interestingly, the interaction of functional variants between SLC24A5 and OCA2 likely influences the diversity of skin pigmentation. Notably, selection has seemingly been relaxed or canceled in several genes with significantly biased ancestry, such as HERC2–OCA2. Moreover, signatures of post-admixture adaptation in XJU were identified, including genes related to metabolism (e.g. CYP2D6), digestion (e.g. COL11A1), olfactory perception (e.g. ANO2) and immunity (e.g. HLA). Our results demonstrated population admixture as a driving force, locally or globally, in shaping human genetic and phenotypic diversity as well as in adaptive evolution.
登录
查看更多内容
新疆维吾尔族的遗传史表明青铜时代与欧亚大陆的多向接触。
影响因子：
10.7
作者：
Feng, Qidi;Lu, Yan;Xu, Shuhua
通讯作者：
Xu, Shuhua
影响因子：
16.6
作者：
Adhikari K;Fuentes-Guajardo M;Quinto-Sánchez M;Mendoza-Revilla J;Camilo Chacón-Duque J;Acuña-Alonzo V;Jaramillo C;Arias W;Lozano RB;Pérez GM;Gómez-Valdés J;Villamil-Ramírez H;Hunemeier T;Ramallo V;Silva de Cerqueira CC;Hurtado M;Villegas V;Granja V;Gallo C;Poletti G;Schuler-Faccini L;Salzano FM;Bortolini MC;Canizales-Quinteros S;Cheeseman M;Rosique J;Bedoya G;Rothhammer F;Headon D;González-José R;Balding D;Ruiz-Linares A
通讯作者：
Ruiz-Linares A
影响因子：
14.9
作者：
Buniello, Annalisa;MacArthur, Jacqueline A. L.;Parkinson, Helen
通讯作者：
Parkinson, Helen
影响因子：
2.9
作者：
Eaton, Katherine;Edwards, Melissa;Parra, Esteban J.
通讯作者：
Parra, Esteban J.
影响因子：
10.7
作者：
Gouy, Alexandre;Excoffier, Laurent
通讯作者：
Excoffier, Laurent