Abstract
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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Acknowledgements
This research was supported by grants from the National Outstanding Youth Science Foundation of China (30625016) and National Science Foundation of China (30890034). Genographic Consortium members are the following: Theodore G. Schurr (University of Pennsylvania, Philadelphia, PA, USA), Fabricio R.Santos (Universidade Federal de Minas Gerais, Belo Horizonte, Brazil), Lluis Quintana-Murci (Institut Pasteur, Paris, France), Jaume Bertranpetit, David Comas (Universitat Pompeu Fabra, Barcelona, Spain), Chris Tyler-Smith (The Wellcome Trust Sanger Institute, Hinxton, UK), Pierre A. Zalloua (Lebanese American University, Chouran, Beirut, Lebanon), Elena Balanovska, Oleg Balanovsky (Russian Academy of Medical Sciences, Moscow, Russia), R. John Mitchell (La Trobe University, Melbourne, Australia), Li Jin (Fudan University, Shanghai, China), Himla Soodyall (National Health Laboratory Service, Johannesburg, South Africa), Ramasamy Pitchappan (Madurai Kamaraj University, Madurai, India), Alan Cooper (University of Adelaide, Adelaide, Australia), Lisa Matisoo-Smith (University of Auckland, Auckland, New Zealand), Ajay K. Royyuru, Daniel E. Platt, Laxmi Parida (IBM, Yorktown Heights, New York, NY, USA), Jason Blue-Smith, David F. Soria Hernanz, and R. Spencer Wells (National Geographic Society, Washington, D.C., USA).
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Yan, S., Wang, CC., Li, H. et al. An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4. Eur J Hum Genet 19, 1013–1015 (2011). https://doi.org/10.1038/ejhg.2011.64
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DOI: https://doi.org/10.1038/ejhg.2011.64
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