Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area

Ornella Semino,1 Chiara Magri,1 Giorgia Benuzzi,1 Alice A. Lin,2 Nadia Al-Zahery,1,4 Vincenza Battaglia,1 Liliana Maccioni,5 Costas Triantaphyllidis,6 Peidong Shen,7 Peter J. Oefner,7 Lev A. Zhivotovsky,8 Roy King,3 Antonio Torroni,1 L. Luca Cavalli-Sforza,2 Peter A. Underhill,2 and A. Silvana Santachiara-Benerecetti1

1Dipartimento di Genetica e Microbiologia ``A. Buzzati Traverso," Università di Pavia, Pavia, Italy; Departments of 2Genetics and 3Psychiatry and Behavioral Sciences, University of Stanford, Stanford; 4Department of Biotechnology, College of Science, University of Baghdad, Baghdad; 5Istituto di Clinica e Biologia Evolutiva, Università di Cagliari, Cagliari, Italy; 6Department of Genetics, Development and Molecular Biology, Aristotle University of Thessaloniki, Thessaloniki; 7Stanford Genome Technology Center, Palo Alto; and 8Vavilov Institute of General Genetics, Russian Academy of Science, Moscow

Received December 17, 2003; accepted for publication February 6, 2004; electronically published April 6, 2004.

The phylogeography of Y-chromosome haplogroups E (Hg E) and J (Hg J) was investigated in >2,400 subjects from 29 populations, mainly from Europe and the Mediterranean area but also from Africa and Asia. The observed 501 Hg E and 445 Hg J samples were subtyped using 36 binary markers and eight microsatellite loci. Spatial patterns reveal that (1) the two sister clades, J-M267 and J-M172, are distributed differentially within the Near East, North Africa, and Europe; (2) J-M267 was spread by two temporally distinct migratory episodes, the most recent one probably associated with the diffusion of Arab people; (3) E-M81 is typical of Berbers, and its presence in Iberia and Sicily is due to recent gene flow from North Africa; (4) J-M172(xM12) distribution is consistent with a Levantine/Anatolian dispersal route to southeastern Europe and may reflect the spread of Anatolian farmers; and (5) E-M78 (for which microsatellite data suggest an eastern African origin) and, to a lesser extent, J-M12(M102) lineages would trace the subsequent diffusion of people from the southern Balkans to the west. A 7%22% contribution of Y chromosomes from Greece to southern Italy was estimated by admixture analysis.