Multiple founding paternal lineages inferred from the newly-developed 639-plex Y-SNP panel suggested the complex admixture and migration history of Chinese people

作者全名:"He, Guanglin; Wang, Mengge; Miao, Lei; Chen, Jing; Zhao, Jie; Sun, Qiuxia; Duan, Shuhan; Wang, Zhiyong; Xu, Xiaofei; Sun, Yuntao; Liu, Yan; Liu, Jing; Wang, Zheng; Wei, Lanhai; Liu, Chao; Ye, Jian; Wang, Le"

作者地址:"[He, Guanglin; Sun, Qiuxia; Duan, Shuhan; Wang, Zhiyong; Xu, Xiaofei; Sun, Yuntao; Liu, Yan] Sichuan Univ, West China Hosp, Inst Rare Dis, Chengdu 610041, Peoples R China; [Wang, Mengge; Liu, Chao] Sun Yat Sen Univ, Fac Forens Med, Zhongshan Sch Med, Guangzhou 510275, Peoples R China; [Miao, Lei; Zhao, Jie; Ye, Jian; Wang, Le] Minist Publ Secur, Key Lab Forens Genet, Inst Forens Sci, Natl Engn Lab Forens Sci, Beijing 100038, Peoples R China; [Chen, Jing] Shanxi Med Univ, Sch Forens Med, Jinzhong 030001, Peoples R China; [Sun, Qiuxia] Chongqing Med Univ, Coll Basic Med, Dept Forens Med, Chongqing 400331, Peoples R China; [Duan, Shuhan; Liu, Yan] North Sichuan Med Coll, Sch Basic Med Sci, Nanchong 637000, Peoples R China; [Wang, Zhiyong] Kunming Med Univ, Sch Forens Med, Kunming 650500, Peoples R China; [Sun, Yuntao; Liu, Jing; Wang, Zheng] Sichuan Univ, Inst Forens Med, West China Sch Basic Sci & Forens Med, Chengdu 610041, Peoples R China; [Wei, Lanhai] Inner Mongolia Normal Univ, Sch Ethnol & Anthropol, Hohhot 010028, Inner Mongolia, Peoples R China; [Liu, Chao] Southern Med Univ, Sch Forens Med, Guangzhou Key Lab Forens Multiom Precis Identifica, Guangzhou 510515, Peoples R China"

通信作者:"He, GL (通讯作者),Sichuan Univ, West China Hosp, Inst Rare Dis, Chengdu 610041, Peoples R China.; Ye, J; Wang, L (通讯作者),Minist Publ Secur, Key Lab Forens Genet, Inst Forens Sci, Natl Engn Lab Forens Sci, Beijing 100038, Peoples R China."

来源:HUMAN GENOMICS

ESI学科分类:MOLECULAR BIOLOGY & GENETICS

WOS号:WOS:000954528200001

JCR分区:Q2

影响因子:3.8

年份:2023

卷号:17

期号:1

开始页: 

结束页: 

文献类型:Article

关键词:Phylogenetic tree; Y-SNPs; Population structure; Founding lineage; Network relationship; Biogeographical ancestry inference

摘要:"BackgroundNon-recombining regions of the Y-chromosome recorded the evolutionary traces of male human populations and are inherited haplotype-dependently and male-specifically. Recent whole Y-chromosome sequencing studies have identified previously unrecognized population divergence, expansion and admixture processes, which promotes a better understanding and application of the observed patterns of Y-chromosome genetic diversity.ResultsHere, we developed one highest-resolution Y-chromosome single nucleotide polymorphism (Y-SNP) panel targeted for uniparental genealogy reconstruction and paternal biogeographical ancestry inference, which included 639 phylogenetically informative SNPs. We genotyped these loci in 1033 Chinese male individuals from 33 ethnolinguistically diverse populations and identified 256 terminal Y-chromosomal lineages with frequency ranging from 0.0010 (singleton) to 0.0687. We identified six dominant common founding lineages associated with different ethnolinguistic backgrounds, which included O2a2b1a1a1a1a1a1a1-M6539, O2a1b1a1a1a1a1a1-F17, O2a2b1a1a1a1a1b1a1b-MF15397, O2a2b2a1b1-A16609, O1b1a1a1a1b2a1a1-F2517, and O2a2b1a1a1a1a1a1-F155. The AMOVA and nucleotide diversity estimates revealed considerable differences and high genetic diversity among ethnolinguistically different populations. We constructed one representative phylogenetic tree among 33 studied populations based on the haplogroup frequency spectrum and sequence variations. Clustering patterns in principal component analysis and multidimensional scaling results showed a genetic differentiation between Tai-Kadai-speaking Li, Mongolic-speaking Mongolian, and other Sinitic-speaking Han Chinese populations. Phylogenetic topology inferred from the BEAST and Network relationships reconstructed from the popART further showed the founding lineages from culturally/linguistically diverse populations, such as C2a/C2b was dominant in Mongolian people and O1a/O1b was dominant in island Li people. We also identified many lineages shared by more than two ethnolinguistically different populations with a high proportion, suggesting their extensive admixture and migration history.ConclusionsOur findings indicated that our developed high-resolution Y-SNP panel included major dominant Y-lineages of Chinese populations from different ethnic groups and geographical regions, which can be used as the primary and powerful tool for forensic practice. We should emphasize the necessity and importance of whole sequencing of more ethnolinguistically different populations, which can help identify more unrecognized population-specific variations for the promotion of Y-chromosome-based forensic applications."

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