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

Peter A Underhill , G David Poznik , Siiri Rootsi (1) , Mari Järve , Alice A Lin , Jianbin Wang , Ben Passarelli , Jad Kanbar , Natalie M Myres , Roy J King , Julie Di Cristofaro (2, 3) , Hovhannes Sahakyan , Doron M Behar (4) , Alena Kushniarevich , Jelena Sarac , Tena Saric , Pavao Rudan , Ajai Kumar Pathak , Gyaneshwer Chaubey , Viola Grugni , Ornella Semino (5) , Levon Yepiskoposyan , Ardeshir Bahmanimehr , Shirin Farjadian , Oleg Balanovsky (6) , Elza K Khusnutdinova , Rene J Herrera , Jacques Chiaroni (2, 3) , Carlos D Bustamante , Stephen R Quake , Toomas Kivisild (7) , Richard Villems (1)

1 UAABC - Anthropologie Bio-Culturelle
2 ADES - Anthropologie bio-culturelle, Droit, Ethique et Santé
3 EFS - Alpes-Méditerranée - Etablissement Français du Sang - Alpes-Méditerranée
4 Molecular Medicine Laboratory
5 Dipartimento di Genetica e Microbiologia
6 Russian Academy of Medical Sciences
7 Leverhulme Centre for Human Evolutionary Studies University of Cambridge

: 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.European Journal of Human Genetics advance online publication, 26 March 2014; doi:10.1038/ejhg.2014.50.

Peter A Underhill, G David Poznik, Siiri Rootsi, Mari Järve, Alice A Lin, et al.. The phylogenetic and geographic structure of Y-chromosome haplogroup R1a.. European Journal of Human Genetics, 2014, epub ahead of print. ⟨10.1038/ejhg.2014.50⟩. ⟨hal-00985026⟩