Refined phylogenetic structure of an abundant East Asian Y-chromosomal haplogroup O-M134

The human Y-chromosome haplogroup O-M134 is one of the most abundant paternal lineages in East Asian populations, comprising ~13% of Han Chinese males, and also common in Kazakh, Korean, Japanese, Thai and so on. Despite its considerable prevalence, its current substructure is poorly resolved with o...

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Published inEuropean journal of human genetics : EJHG Vol. 24; no. 2; pp. 307 - 309
Main Authors Ning, Chao, Yan, Shi, Hu, Kang, Cui, Yin-Qiu, Jin, Li
Format Journal Article
LanguageEnglish
Published England Nature Publishing Group 01.02.2016
Subjects
Asian Continental Ancestry Group - genetics
Chromosomes
Chromosomes, Human, Y - genetics
Deoxyribonucleic acid
DNA
DNA sequencing
Education
Ethnic Groups
Evolutionary biology
Far East
Genetics
Genetics, Population
Haplotypes - genetics
Humans
Laboratories
Life sciences
Male
Males
Mutation
Neolithic
Phylogenetics
Phylogeny
Population
Population studies
Short Report
Single-nucleotide polymorphism
Social sciences
Software
Y Chromosomes
Beijing China
East Asia
Mongolia
Tibet
United States > US
China
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Summary:The human Y-chromosome haplogroup O-M134 is one of the most abundant paternal lineages in East Asian populations, comprising ~13% of Han Chinese males, and also common in Kazakh, Korean, Japanese, Thai and so on. Despite its considerable prevalence, its current substructure is poorly resolved with only one downstream marker (M117) previously investigated. Here we address this deficiency by investigating some single-nucleotide polymorphisms (SNPs) previously reported being potentially associated with O-M134 based on high-throughput DNA-sequencing data. Using a panel of 1301 Chinese males we first identified 154 haplogroup O-M134 subjects. We then investigated the phylogenetic structure within this haplogroup using 10 SNPs (F444, F629, F3451, F46, F48, F209, F2887, F3386, F1739 and F152). Two major branches were identified, O-M117 and O-F444 and the latter was further divided into two main subclades, O-F629 and O-F3451, accounting for 10.84 and 0.92% of the Han Chinese, respectively. This update of O-M134 diversification permits better resolution of male lineages in population studies of East Asia.
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These authors contributed equally to this work.
ISSN:1018-4813
1476-5438
1476-5438
DOI:10.1038/ejhg.2015.183