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Eur J Hum Genet. 2011 Sep;19(9):1013-5. doi: 10.1038/ejhg.2011.64. Epub 2011 Apr 20.

An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4.

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  • 1State Key Laboratory of Genetic Engineering and Ministry of Education, Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.

Erratum in

  • Eur J Hum Genet. 2011 Sep;19(9):1018. [Multiple collaborator names added].


Y-chromosome Haplogroup O is the dominant lineage of East Asians, comprising more than a quarter of all males on the world; however, its internal phylogeny remains insufficiently investigated. In this study, we determined the phylogenetic position of recently defined markers (L127, KL1, KL2, P164, and PK4) in the background of Haplogroup O. In the revised tree, subgroup O3a-M324 is divided into two main subclades, O3a1-L127 and O3a2-P201, covering about 20 and 35% of Han Chinese people, respectively. The marker P164 is corrected from a downstream site of M7 to upstream of M134 and parallel to M7 and M159. The marker PK4 is also relocated from downstream of M88 to upstream of M95, separating the former O2(*) into two parts. This revision evidently improved the resolving power of Y-chromosome phylogeny in East Asia.

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