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MBE Advance Access published online on March 10, 2007

Molecular Biology and Evolution, doi:10.1093/molbev/msm049
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© The Author 2007. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Research Article

Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-chromosomal Haplogroups E-M78 and J-M12

Fulvio Cruciani1, Roberta La Fratta1, Beniamino Trombetta1, Piero Santolamazza1, Daniele Sellitto2, Eliane Beraud Colomb3, Jean-Michel Dugoujon4, Federica Crivellaro1,*, Tamara Benincasa5, Roberto Pascone6, Pedro Moral7, Elizabeth Watson8, Bela Melegh9, Guido Barbujani10, Silvia Fuselli10, Giuseppe Vona11, Boris Zagradisnik12, Guenter Assum13, Radim Brdicka14, Andrey I. Kozlov15, Georgi D. Efremov16, Alfredo Coppa17, Andrea Novelletto18 and Rosaria Scozzari1,2

1 Dipartimento di Genetica e Biologia Molecolare, Sapienza Università di Roma, Rome, Italy
2 Istituto di Biologia e Patologia Molecolari del Consiglio Nazionale delle Ricerche, Rome, Italy
3 Laboratoire d'Immunologie, Hôpital de Sainte-Marguerite, Marseille, France
4 Laboratoire d'Anthropologie, FRE 2960 CNRS, Université Paul Sabatier, Toulouse, France
5 Dipartimento di Biologia Cellulare, Università della Calabria, Rende, Italy
6 Dipartimento di Scienze Ginecologiche Perinatologia e Puericultura, Sapienza Università di Roma, Rome, Italy
7 Departament de Biologia Animal, Universitat de Barcelona, Barcelona, Spain
8 The Swedish Museum of Natural History, Stockholm, Sweden
9 Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary
10 Dipartimento di Biologia, Università di Ferrara, Ferrara, Italy
11 Dipartimento di Biologia Sperimentale, Università di Cagliari, Cagliari, Italy
12 Laboratory of Medical Genetics, General Hospital Maribor, Maribor, Slovenia
13 Institut für Humangenetik, Universität Ulm, Ulm, Germany
14 Institute for Haematology and Blood Transfusion, Prague, Czech Republic
15 ArctAn C Innovative Laboratory, Moscow, Russia
16 Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia
17 Dipartimento di Biologia Animale e dell'Uomo, Sapienza Università di Roma, Rome, Italy
18 Dipartimento di Biologia, Università "Tor Vergata", Rome, Italy

Corresponding author: Rosaria Scozzari, Dipartimento di Genetica e, Biologia Molecolare, Sapienza Università di Roma, P.le Aldo Moro 5, 00185 Rome, Italy, Phone: (39) 06 49912826 (office), Phone: (39) 06 49912924 (lab), Fax: (39) 06 4456866, E-mail: rosaria.scozzari{at}uniroma1.it

Received for publication January 5, 2007. Revision received March 1, 2007. Accepted for publication March 4, 2007.

Detailed population data were obtained on the distribution of novel biallelic markers that finely dissect the human Y chromosomal haplogroup E-M78. Among 6501 Y chromosomes sampled in 81 human populations worldwide, we found 517 E-M78 chromosomes and assigned them to ten sub-haplogroups. Eleven microsatellite loci were used to further evaluate sub-haplogroup internal diversification.

The geographic and quantitative analysis of haplogroup and microsatellite diversity is strongly suggestive of a north-eastern African origin of E-M78, with a corridor for bidirectional migrations between north-eastern and eastern Africa (at least two episodes between 23.9-17.3 ky and 18.0-5.9 ky ago), trans-Mediterranean migrations directly from northern Africa to Europe (mainly in the last 13.0 ky) and flow from north-eastern Africa to western Asia between 20.0 and 6.8 ky ago.

A single clade within E-M78 (E-V13) highlights a range expansion in the Bronze Age of south-eastern Europe, which is also detected by haplogroup J-M12. The phylogeography, pattern of molecular radiation and coalescence estimates for both haplogroups are similar and reveal that the genetic landscape of this region is, to a large extent, the consequence of a recent population growth in situ rather than the result of a mere flow of western Asian migrants in the early Neolithic.

Our results not only provide a refinement of previous evolutionary hypotheses, but also well defined time frames for past human movements both in northern/eastern Africa and western Eurasia.

Key Words: Y chromosome haplogroups • Y chromosome phylogeography • human migrations • Bronze Age • European populations • African populations


* Present address: Leverhulme Centre for Human Evolutionary Studies, University of Cambridge, Cambridge, U.K.;


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