Format

Send to:

Choose Destination
See comment in PubMed Commons below
Eur J Hum Genet. 2015 Jan;23(1):124-31. doi: 10.1038/ejhg.2014.50. Epub 2014 Mar 26.

The phylogenetic and geographic structure of Y-chromosome haplogroup R1a.

Author information

  • 1Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • 2Program in Biomedical Informatics and Department of Statistics, Stanford University, Stanford, CA, USA.
  • 3Estonian Biocentre and the Department of Evolutionary Biology, University of Tartu, Tartu, Estonia.
  • 4Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA, USA.
  • 5Department of Bioengineering, Stanford University, Stanford, CA, USA.
  • 6Ancestry DNA, Provo, UT, USA.
  • 7UMR 7268 ADES, Aix-Marseille Université/EFS/CNRS, Marseille, France.
  • 81] Estonian Biocentre and the Department of Evolutionary Biology, University of Tartu, Tartu, Estonia [2] Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences, Yerevan, Armenia.
  • 91] Estonian Biocentre and the Department of Evolutionary Biology, University of Tartu, Tartu, Estonia [2] Molecular Medicine Laboratory, Rambam Health Care Campus, Haifa, Israel.
  • 101] Estonian Biocentre and the Department of Evolutionary Biology, University of Tartu, Tartu, Estonia [2] Institute for Anthropological Research, Zagreb, Croatia.
  • 111] Institute for Anthropological Research, Zagreb, Croatia [2] Croatian Academy of Sciences and Arts, Zagreb, Croatia.
  • 12Dipartimento di Biologia e Biotecnologie 'Lazzaro Spallanzani', Università di Pavia, Pavia, Italy.
  • 131] Dipartimento di Biologia e Biotecnologie 'Lazzaro Spallanzani', Università di Pavia, Pavia, Italy [2] Centro Interdipartimentale 'Studi di Genere', Università di Pavia, Pavia, Italy.
  • 14Laboratory of Ethnogenomics, Institute of Molecular Biology, National Academy of Sciences, Yerevan, Armenia.
  • 15Department of Medical Genetic, Shiraz University of Medical Sciences, Shiraz, Iran.
  • 16Department of Immunology, Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • 17Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia.
  • 181] Institute of Biochemistry and Genetics, Ufa Scientific Center of Russian Academy of Sciences, Ufa, Russia [2] Department of Biology, Bashkir State University, Ufa, Russia.
  • 19Department of Human and Molecular Genetics, College of Medicine, Florida International University, Miami, FL, USA.
  • 201] Department of Bioengineering, Stanford University, Stanford, CA, USA [2] Department of Applied Physics, Stanford University, Stanford, CA, USA [3] Howard Hughes Medical Institute, Stanford University, Stanford, CA, USA.
  • 211] Estonian Biocentre and the Department of Evolutionary Biology, University of Tartu, Tartu, Estonia [2] Division of Biological Anthropology, University of Cambridge, Cambridge, UK.
  • 221] Estonian Biocentre and the Department of Evolutionary Biology, University of Tartu, Tartu, Estonia [2] Estonian Academy of Sciences, Tallinn, Estonia.

Abstract

R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a panel of 16 244 male subjects from 126 populations sampled across Eurasia, we identified 2923 R1a-M420 Y-chromosomes and analyzed them to a highly granular phylogeographic resolution. Whole Y-chromosome sequence analysis of eight R1a and five R1b individuals suggests a divergence time of ∼25,000 (95% CI: 21,300-29,000) years ago and a coalescence time within R1a-M417 of ∼5800 (95% CI: 4800-6800) years. The spatial frequency distributions of R1a sub-haplogroups conclusively indicate two major groups, one found primarily in Europe and the other confined to Central and South Asia. Beyond the major European versus Asian dichotomy, we describe several younger sub-haplogroups. Based on spatial distributions and diversity patterns within the R1a-M420 clade, particularly rare basal branches detected primarily within Iran and eastern Turkey, we conclude that the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran.

PMID:
24667786
[PubMed - in process]
PMCID:
PMC4266736
[Available on 2016-01-01]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Write to the Help Desk