Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe

Siiri Rootsi, Chiara Magri, Toomas Kivisild, Giorgia Benuzzi, Hela Help, Marina Bermisheva, Ildus Kutuev, Lovorka Barać, Marijana Peričić, Oleg Balanovsky, Andrey Pshenichnov, Daniel Dion, Monica Grobei, Lev A. Zhivotovsky, Vincenza Battaglia, Alessandro Achilli, Nadia Al-Zahery, Jüri Parik, Roy King, Cengiz CinnioǧluElsa Khusnutdinova, Pavao Rudan, Elena Balanovska, Wolfgang Scheffrahn, Maya Simonescu, Antonio Brehm, Rita Goncalves, Alexandra Rosa, Jean Paul Moisan, Andre Chaventre, Vladimir Ferak, Sandor Füredi, Peter J. Oefner, Peidong Shen, Lars Beckman, Ilia Mikerezi, Rifet Terzić, Dragan Primorac, Anne Cambon-Thomsen, Astrida Krumina, Antonio Torroni, Peter A. Underhill, A. Silvana Santachiara-Benerecetti, Richard Villems, Ornella Semino

Research output: Contribution to journalArticlepeer-review

224 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)128-137
Number of pages10
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - Jul 2004

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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