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Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe
Authors:Rootsi Siiri  Magri Chiara  Kivisild Toomas  Benuzzi Giorgia  Help Hela  Bermisheva Marina  Kutuev Ildus  Barać Lovorka  Pericić Marijana  Balanovsky Oleg  Pshenichnov Andrey  Dion Daniel  Grobei Monica  Zhivotovsky Lev A  Battaglia Vincenza  Achilli Alessandro  Al-Zahery Nadia  Parik Jüri  King Roy  Cinnioğlu Cengiz  Khusnutdinova Elsa  Rudan Pavao  Balanovska Elena  Scheffrahn Wolfgang  Simonescu Maya  Brehm Antonio  Goncalves Rita  Rosa Alexandra  Moisan Jean-Paul  Chaventre Andre  Ferak Vladimir  Füredi Sandor  Oefner Peter J  Shen Peidong  Beckman Lars  Mikerezi Ilia  Terzić Rifet  Primorac Dragan  Cambon-Thomsen Anne
Affiliation:1 Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia
2 Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy
3 Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa
4 Institute for Anthropological Research, Zagreb, Croatia
5 Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow
6 N. I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow
7 Institute of Anthropology, University of Zurich-Irchel, Zurich
8 Institute of Cellular Biology and Pathology “Nicolae Simionescu,” Bucharest, Romania
9 Department of Genetics, Stanford University, Stanford
10 Human Genetics Laboratory, Center of Macaronesian Studies, University of Madeira, Madeira, Portugal
11 Laboratoire d'Etude du Polymorphisme de l'ADN, Faculté de Médecine, Nantes, France
12 Department of Molecular Genetics, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia
13 Institute of Forensic Sciences, Budapest
14 Stanford DNA Sequencing and Technology Center, Palo Alto
15 Gotland University, Visby, Sweden
16 Department of Biology, Faculty of Natural Sciences, Tirana University, Tirana, Albania
17 Department of Biology and Genetics, Medical School Tuzla, Tuzla, Bosnia and Herzegovina
18 Medical School at Split University, Split, Croatia
19 Medical School at Osijek University, Osijek, Croatia
20 Inserm U 558, Epidemiologie et Analyses en Santé Publique: Risques, Maladies Chroniques et Handicaps, Faculte de Medecine, Toulouse, France
21 Medical Academy of Latvia, Riga, Latvia
Abstract:To investigate which aspects of contemporary human Y-chromosome variation in Europe are characteristic of primary colonization, late-glacial expansions from refuge areas, Neolithic dispersals, or more recent events of gene flow, we have analyzed, in detail, haplogroup I (Hg I), the only major clade of the Y phylogeny that is widespread over Europe but virtually absent elsewhere. The analysis of 1,104 Hg I Y chromosomes, which were identified in the survey of 7,574 males from 60 population samples, revealed several subclades with distinct geographic distributions. Subclade I1a accounts for most of Hg I in Scandinavia, with a rapidly decreasing frequency toward both the East European Plain and the Atlantic fringe, but microsatellite diversity reveals that France could be the source region of the early spread of both I1a and the less common I1c. Also, I1b*, which extends from the eastern Adriatic to eastern Europe and declines noticeably toward the southern Balkans and abruptly toward the periphery of northern Italy, probably diffused after the Last Glacial Maximum from a homeland in eastern Europe or the Balkans. In contrast, I1b2 most likely arose in southern France/Iberia. Similarly to the other subclades, it underwent a postglacial expansion and marked the human colonization of Sardinia ~9,000 years ago.
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