Multiple-wave admixture and adaptive evolution of the Pamirian Wakhi people.

IF 11 1区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY Molecular biology and evolution Pub Date : 2024-11-07 DOI:10.1093/molbev/msae237
Wanxing Xu, Jiaojiao Liu, Xiaoxi Zhang, Jia Wen, Qidi Feng, Yang Gao, Yuwen Pan, Yan Lu, Asifullah Khan, Shuhua Xu
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Abstract

While whole-genome sequencing has been applied extensively to investigate the genetic diversity of global populations, ethnic minority groups in Pakistan are generally underrepresented. In particular, little is known about the genetic origin and highland adaptation of the Pamirian Wakhi people. According to Chinese historical records, the geographical location and language usage of Wakhi may be closely related to Xinjiang Tajiks (XJT). In this study, based on high-coverage (∼30×) whole-genome sequencing of eight Wakhi and 25 XJT individuals, we performed data analyses together with worldwide populations to gain insights into their genetic composition, demography, and adaptive evolution to the highland environment. The Wakhi derived more than 85% of their ancestry from West Eurasian populations (European ∼44.5%, South Asian ∼42.2%) and 10% from East Eurasian populations (Siberian ∼6.0%, East Asian ∼4.3%). Modeling the admixture history of the Wakhi indicated that the early West-East admixture occurred approximately 3,875-2,250 years ago and that the recent admixture occurred 750-375 years ago. We identified selection signatures across EGLN3, in particular, a distinctive evolutionary signature was observed, and a certain underlying selected haplotype showed higher frequency (87.5%) in the Wakhi than in nearby XJT and other highlanders. Interestingly, we found high-frequency archaic sequences in the Wakhi genome, which overlapped with several genes related to cellular signaling transduction, including MAGI2, previously associated with high-altitude adaptation. Our analysis indicates that the Wakhi are distinct from the XJTs and Tajikistan Tajiks, and shed light on the Wakhi's ancestral origin and genetic basis of high-altitude adaptation.

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帕米尔瓦希人的多波混血和适应性进化。
尽管全基因组测序已被广泛应用于研究全球人口的遗传多样性,但巴基斯坦少数民族群体的代表性普遍不足。特别是,人们对帕米尔瓦其人的基因起源和高原适应性知之甚少。根据中国历史记载,瓦其人的地理位置和语言使用可能与新疆塔吉克人(XJT)密切相关。在本研究中,我们基于对8个瓦希族个体和25个新疆塔吉克族个体的高覆盖率(∼30×)全基因组测序,与世界范围内的人群一起进行了数据分析,以深入了解他们的遗传组成、人口结构以及对高原环境的适应性进化。瓦希人85%以上的祖先来自欧亚西部人群(欧洲人∼44.5%,南亚人∼42.2%),10%来自欧亚东部人群(西伯利亚人∼6.0%,东亚人∼4.3%)。对瓦希族的混血历史建模表明,早期的西东混血发生在大约 3,875-2,250 年前,近期的混血发生在 750-375 年前。我们发现了整个 EGLN3 的选择特征,尤其是观察到了一个独特的进化特征,与邻近的 XJT 和其他高原人相比,某个潜在的选择单倍型在瓦希人中的频率更高(87.5%)。有趣的是,我们在瓦希人的基因组中发现了高频率的古老序列,这些序列与几个与细胞信号传导有关的基因重叠,包括以前与高海拔适应有关的 MAGI2。我们的分析表明,瓦希人有别于新疆塔吉克人和塔吉克斯坦塔吉克人,并揭示了瓦希人的祖先起源和高海拔适应的遗传基础。
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来源期刊
Molecular biology and evolution
Molecular biology and evolution 生物-进化生物学
CiteScore
19.70
自引率
3.70%
发文量
257
审稿时长
1 months
期刊介绍: Molecular Biology and Evolution Journal Overview: Publishes research at the interface of molecular (including genomics) and evolutionary biology Considers manuscripts containing patterns, processes, and predictions at all levels of organization: population, taxonomic, functional, and phenotypic Interested in fundamental discoveries, new and improved methods, resources, technologies, and theories advancing evolutionary research Publishes balanced reviews of recent developments in genome evolution and forward-looking perspectives suggesting future directions in molecular evolution applications.
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