Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe
F. Di Giacomo1, F. Luca2, L. O. Popa3, N. Akar4, N. Anagnou5, 20, J. Banyko6, R. Brdicka7, G. Barbujani8, F. Papola9, G. Ciavarella10, F. Cucci11, L. Di Stasi12, L. Gavrila3, M. G. Kerimova13, D. Kovatchev14, A. I. Kozlov15, A. Loutradis16, V. Mandarino2, C. Mammi17, E. N. Michalodimitrakis5, 21, G. Paoli18, K. I. Pappa5, 20, G. Pedicini19, L. Terrenato1, S. Tofanelli18, P. Malaspina1 and A. Novelletto2
(1) Department of Biology, University Tor Vergata, Rome, Italy
(2) Department of Cell Biology, University of Calabria, Via P. Bucci, 87030 Rende, Italy
(3) Genetics Department, University of Bucharest, Bucharest, Rumania
(4) Pediatrics Department, Ankara University, Ankara, Turkey
(5) School of Medicine, University of Athens , Athens, Greece
(6) University of P. J. Safarik, Kosice, Slovak Republic
(7) Institute for Haematology and Blood Transfusion, Prague, Czech Republic
(8) Department of Biology, University of Ferrara, Ferrara, Italy
(9) Centro Regionale di Immunoematologia e Tipizzazione Tissutale, LAquila, Italy
(10) IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Italy
(11) Az. Osp. Perrino, Brindisi, Italy
(12) A.S.L. 1, Paola, Italy
(13) Department of Hygiene, Azerbaijan Medical University, Baku, Azerbaijan
(14) Department of Biology, Medical University, Varna, Bulgaria
(15) Arct-An C Innovative Laboratory, Moscow, Russian Federation
(16) Ministry of Health Center for Thalassemia, Athens, Greece
(17) A.S.L. BMM, Reggio Calabria, Italy
(18) Department of Ethology, Ecology and Evolution, University of Pisa, Pisa, Italy
(19) Az. Osp. Rummo, Benevento, Italy
(20) Institute of Molecular Biology and Biotechnology, Heraklion, Greece
(21) University of Crete School of Medicine, Laboratory of Toxicology and Forensic Medicine, Heraklion, Crete
Received: 2 February 2004 Accepted: 21 June 2004 Published online: 21 August 2004
Abstract In order to attain a finer reconstruction of the peopling of southern and central-eastern Europe from the Levant, we determined the frequencies of eight lineages internal to the Y chromosomal haplogroup J, defined by biallelic markers, in 22 population samples obtained with a fine-grained sampling scheme. Our results partially resolve a major multifurcation of lineages within the haplogroup. Analyses of molecular variance show that the area covered by haplogroup J dispersal is characterized by a significant degree of molecular radiation for unique event polymorphisms within the haplogroup, with a higher incidence of the most derived sub-haplogroups on the northern Mediterranean coast, from Turkey westward; here, J diversity is not simply a subset of that present in the area in which this haplogroup first originated. Dating estimates, based on simple tandem repeat loci (STR) diversity within each lineage, confirmed the presence of a major population structuring at the time of spread of haplogroup J in Europe and a punctuation in the peopling of this continent in the post-Neolithic, compatible with the expansion of the Greek world. We also present here, for the first time, a novel method for comparative dating of lineages, free of assumptions of STR mutation rates.
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