Cromosomas

doi: 10.1111/j.1529-8817.2005.00224.x

Population Structure in the Mediterranean Basin: A Y Chromosome Perspective
C. Capelli1,2, , N. Redhead1 , V. Romano3 , F. Cal`4 , G. Lefranc5 , V. Delague6,† , A. Megarbane6 , ı 7 2 8 A. E. Felice , V. L. Pascali , P. I. Neophytou , Z. Poulli9 , A. Novelletto10 , P. Malaspina11 , L. Terrenato11 , A. Berebbi12 , M. Fellous13 , M. G. Thomas1 and D. B.Goldstein1 1 Department of Biology, University College of London, London, UK 2 Istituto di Medicina Legale,Universit` Cattolica del Sacro Cuore, Rome, Italy a 3 Department of Biopathology and Biomedical Methodologies, University of Palermo, Palermo, Italy 4 Oasi Institute for Research on mental Retardation and Brain Aging (IRCCS), Troina, Italy 5 Universit´ Montpellier II et Institut de G´n´tiqueHumaine, CNRS UPR 1142, Montpellier, France e e e 6 Unit´ de G´n´tique M´dicale, Facult´ de M´decine, Universit´ Saint-Joseph, Beyrouth, Lebanon e e e e e e e 7 Laboratory of Molecular Genetics, Department of Pathology, University of Malta, Malta 8 Mendel Center for Biomedical Sciences, Eglomi, Nicosia, Cyprus 9 Cyprus Research Center (KYKEM), Nicosia, Cyprus 10 Department of Cell Biology, Universityof Calabria, Rende, Italy 11 Department of Biology, University “Tor Vergata”, Rome, Italy 12 Hematology Institute, Kaplan Medical Center, Rehovot, Israel 13 Department of Human Genetics, Universit´ Paris, Paris, France e
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Summary
The Mediterranean region has been characterised by a number of pre-historical and historical demographic events whose legacy on the current genetic landscape isstill a matter of debate. In order to investigate the degree of population structure across the Mediterranean, we have investigated Y chromosome variation in a large dataset of Mediterranean populations, 11 of which are first described here. Our analyses identify four main clusters in the Mediterranean that can be labelled as North Africa, Arab, Central-East and West Mediterranean. In particular, NearEastern samples tend to separate according to the presence of Arab Y chromosome lineages, suggesting that the Arab expansion played a major role in shaping the current genetic structuring within the Fertile Crescent.
Keywords : Mediterranean, Y chromosome, population genetic structure, STRs, UEPs.

Introduction
The Mediterranean basin has witnessed a number of dramatic demographic eventsthroughout time. The area has been peopled since the very beginning of the human diaspora from the Africa continent. The archeological
Corresponding author: Cristian Capelli, Genetic Identity Europe, Promega Corporation, Madison WI, U.S.A. Promega Italia, Via Decembrio 28, 20137 Milano. Tel: +39 0773 458535; Fax: +39 0773 458535. E-mail: cristian.capelli@promega.com † Current address: INSERM U491,Laboratoire G´ n´ tique e e M´ dicale et D´ veloppement Facult´ de M´ decine de la Timone, e e e e Marseille, France. The opinions expressed in this article by C. Capelli do not necessarily reflect those of Promega Corporation
University College London 2005
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sites of Skhul and Qafzeh in the Middle-East (Stringer & Gamble, 1993) contain the oldest Homo sapiens remains outside Africa, dating to90–100000 years before present (yBP), and Southern Greece, Sicily and South Coastal Spain were peopled well before 10–12000 yBP. By 9000 yBP agricultural development occurred in the Near East and this new technology spread throughout Europe in the next millennia (Cunliffe, 2001). The demographic effects the Neolithic revolution had on the European peninsula are still a matter of debate among bothgeneticists (Barbujani et al. 1998; Chikhi et al. 1998; Richards et al. 2000; Simoni et al. 2000; Semino et al. 2000; Rosser et al. 2000; Torroni et al. 2001; Chikhi et al.
Annals of Human Genetics (2005)

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2002; Richards et al. 2002) and archaeologists (Ammerman & Cavalli-Sforza, 1984; Zvelebil & Zvelebil, 1988), even though in the frame of hypothesis testing,...