Phylogeography of Y-chromosome haplogroup Q1a1a-M120, a paternal lineage connecting populations in Siberia and East Asia

Phylogeography of Y-chromosome haplogroup Q1a1a-M120, a paternal lineage connecting populations in Siberia and East Asia
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Y染色体单倍群Q1a1a-M120的系统发育地理学,连接西伯利亚和东亚人群的父系谱系

DOI:
10.1080/03014460.2019.1632930
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发表时间:
2019-04
影响因子:
1.7
通讯作者:
Wei Lan-Hai
Wei Lan-Hai
中科院分区:
医学4区
文献类型:
--
作者:
Sun Na;Ma Peng-Cheng;Yan Shi;Wen Shao-Qing;Sun Chang;Du Pan-Xin;Cheng Hui-Zhen;Deng Xiao-Hua;Wang Chuan-Chao;Wei Lan-Hai

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摘要背景:以前的研究表明,人类Y染色体单倍群Q1 a1 a-M120,一个广泛存在于东亚人群中的父系谱系,起源于南西伯利亚。然而,关于这一父系血统的起源、多样化和扩张仍存在许多不确定性。目的:探讨父系Q-M120家系在东亚的起源和传播。研究对象和方法:作者产生了26个新的Y染色体序列的Q-M120男性和共分析了45个Y染色体序列的这个单倍群。对Q-M120单倍群的系统发育树进行了高度修正。此外,还对该谱系进行了全面的地理分析,包括来自欧亚大陆东部440个种群的15,007个样本。结果:揭示了该谱系与西伯利亚人群的古老联系。然而,这一父系血统在5000年至3000年前在中国西北地区经历了一次原地扩张。Q-M120高频率的古代人群参与了2000年前古代华夏人群的形成;该单倍群最终成为现代汉族人群的创始父系谱系之一。结论:本研究提供了Q1 a1 a-M120单倍群起源和扩散过程的清晰模式,以及该父系谱系在古代华夏人群和现代汉族人群形成中的作用。
Abstract Background: Previous studies have suggested that the human Y-chromosome haplogroup Q1a1a-M120, a widespread paternal lineage in East Asian populations, originated in South Siberia. However, much uncertainty remains regarding the origin, diversification, and expansion of this paternal lineage. Aim: To explore the origin and diffusion of paternal Q-M120 lineages in East Asia. Subjects and methods: The authors generated 26 new Y chromosome sequences of Q-M120 males and co-analysed 45 Y chromosome sequences of this haplogroup. A highly-revised phylogenetic tree of haplogroup Q-M120 with age estimates was reconstructed. Additionally, a comprehensive phylogeographic analysis of this lineage was performed including 15,007 samples from 440 populations in eastern Eurasia. Results: An ancient connection of this lineage with populations in Siberia was revealed. However, this paternal lineage experienced an in-situ expansion between 5000 and 3000 years ago in northwestern China. Ancient populations with high frequencies of Q-M120 were involved in the formation of ancient Huaxia populations before 2000 years ago; this haplogroup eventually became one of the founding paternal lineages of modern Han populations. Conclusion: This study provides a clear pattern of the origin and diffusion process of haplogroup Q1a1a-M120, as well as the role of this paternal lineage during the formation of ancient Huaxia populations and modern Han populations.
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