Article

European Journal of Human Genetics (2007) 15, 204–211. doi:10.1038/sj.ejhg.5201748; published online 6 December 2006

A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe

Siiri Rootsi1,10, Lev A Zhivotovsky2,10, Marian Baldovic caron1,3, Manfred Kayser4, Ildus A Kutuev1,5, Rita Khusainova1,5, Marina A Bermisheva1,5, Marina Gubina1,6, Sardana A Fedorova1,7, Anne-Mai Ilumäe1, Elza K Khusnutdinova5, Mikhail I Voevoda6, Ludmila P Osipova6, Mark Stoneking8, Alice A Lin9, Vladimir Ferak3, Jüri Parik1, Toomas Kivisild1, Peter A Underhill9 and Richard Villems1

  1. 1Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia
  2. 2N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia
  3. 3Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia
  4. 4Department of Forensic Molecular Biology, Erasmus University Medical Centre, Rotterdam, The Netherlands
  5. 5Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, Russia
  6. 6Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia
  7. 7Department of Molecular Genetics, Yakut Research Center, Russian Academy of Medical Sciences and Government of the Sakha Republic, Yakutsk, Yakutia
  8. 8Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany
  9. 9Department of Genetics, Stanford University, Stanford, CA, USA

Correspondence: Dr S Rootsi, Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Riia 23, Tartu, 51010, Estonia. Tel.: +372 7 375054; Fax: +3727 7 420194; E-mail: sroots@ebc.ee

10These authors contributed equally to this work.

Received 26 June 2006; Revised 17 October 2006; Accepted 20 October 2006; Published online 6 December 2006.

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Abstract

A large part of Y chromosome lineages in East European and East Asian human populations belong to haplogroup (hg) NO, which is composed of two sister clades N-M231 and O-M175. The O-clade is relatively old (around 30 thousand years (ky)) and encompasses the vast majority of east and Southeast Asian male lineages, as well as significant proportion of those in Oceanian males. On the other hand, our detailed analysis of hg N suggests that its high frequency in east Europe is due to its more recent expansion westward on a counter-clock northern route from inner Asia/southern Siberia, approximately 12–14 ky ago. The widespread presence of hg N in Siberia, together with its absence in Native Americans, implies its spread happened after the founder event for the Americas. The most frequent subclade N3, arose probably in the region of present day China, and subsequently experienced serial bottlenecks in Siberia and secondary expansions in eastern Europe. Another branch, N2, forms two distinctive subclusters of STR haplotypes, Asian (N2-A) and European (N2-E), the latter now mostly distributed in Finno-Ugric and related populations. These phylogeographic patterns provide evidence consistent with male-mediated counter-clockwise late Pleistocene–Holocene migratory trajectories toward Northwestern Europe from an ancestral East Asian source of Paleolithic heritage.

Keywords:

Y chromosome, haplogroup origin, expansion, phylogeography, northern Eurasia

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