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


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.

SUBMITTER: Underhill PA 

PROVIDER: S-EPMC4266736 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature

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

Underhill Peter A PA   Poznik G David GD   Rootsi Siiri S   Järve Mari M   Lin Alice A AA   Wang Jianbin J   Passarelli Ben B   Kanbar Jad J   Myres Natalie M NM   King Roy J RJ   Di Cristofaro Julie J   Sahakyan Hovhannes H   Behar Doron M DM   Kushniarevich Alena A   Sarac Jelena J   Saric Tena T   Rudan Pavao P   Pathak Ajai Kumar AK   Chaubey Gyaneshwer G   Grugni Viola V   Semino Ornella O   Yepiskoposyan Levon L   Bahmanimehr Ardeshir A   Farjadian Shirin S   Balanovsky Oleg O   Khusnutdinova Elza K EK   Herrera Rene J RJ   Chiaroni Jacques J   Bustamante Carlos D CD   Quake Stephen R SR   Kivisild Toomas T   Villems Richard R  

European journal of human genetics : EJHG 20140326 1


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 coa  ...[more]

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