Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language

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Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies using mtDNA have traced many founding lineages to the Paleolithic and have not shown strongly clinal variation. We have used 11 human Y-chromosomal biallelic polymorphisms, defining 10 haplogroups, to analyze a sample of 3,616 Y chromosomes belonging to 47 European and circum-European populations. Patterns of geographic differentiation are highly nonrandom, and, when they are assessed using spatial autocorrelation analysis, they show significant clines for five of six haplogroups analyzed. Clines for two haplogroups, representing 45% of the chromosomes, are continentwide and consistent with the demic diffusion hypothesis. Clines for three other haplogroups each have different foci and are more regionally restricted and are likely to reflect distinct population movements, including one from north of the Black Sea. Principal-components analysis suggests that populations are related primarily on the basis of geography, rather than on the basis of linguistic affinity. This is confirmed in Mantel tests, which show a strong and highly significant partial correlation between genetics and geography but a low, nonsignificant partial correlation between genetics and language. Genetic-barrier analysis also indicates the primacy of geography in the shaping of patterns of variation. These patterns retain a strong signal of expansion from the Near East but also suggest that the demographic history of Europe has been complex and influenced by other major population movements, as well as by linguistic and geographic heterogeneities and the effects of drift.

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1Department of Genetics, University of Leicester, Leicester; 2CRC Chromosome Molecular Biology Group, Department of Biochemistry, and 3Institute of Molecular Medicine, University of Oxford, Oxford; 4Institute of General and Molecular Pathology, University of Tartu and 5Estonian Biocentre, Tartu, Estonia; 6Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences “Vinca,” Belgrade; 75 IPATIMUP and Faculdade de Ciências, Universidade do Porto, Porto, Portugal; 8Department of Zoology, University of Cambridge, Cambridge; 9Centro de Investigacion y Criminalistica, Laboratorio de ADN, Policia Judicial, Guardia Civil, and 10Laboratorio de Biología Forense, Departamento de Toxicología y Legislación Sanitaria, Universidad Complutense, Madrid; 11Dipartimento di Biologia, Universita di Ferrara, Ferrara, Italy; 12Umeå University, Department of Medical Genetics, Umeå, Sweden; 13Unitat de Biologia Evolutiva, Facultat de Ciecies de la Salut I de la Vida, Universitat Pompeu Fabra, Barcelona; 14Department of Genetics, Trinity College, Dublin; 15University of Oslo, Centre for Biotechnology, Oslo; 16Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisbon; 17Forensic Laboratory for DNA Research, MGC-Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands; 18Laboratory for Forensic Genetics and Molecular Archaeology, Center for Human Genetics, K.U. Leuven, Leuven, Belgium; 19Research Centre for Medical Genetics, Russian Academy of Medical Sciences, UFA Science Centre, Department of Biochemistry and Cytochemistry, Moscow; 20Department of Physiology, University of Kiel, Kiel; 21Department of Medical Genetics, Institute of Endocrinology, Medical University of Lódz, Lódz, Poland; 22Department of Human Biology, Edith Cowan University, Joondalup Campus, and Western Australian Institute for Medical Research, Royal Perth Hospital, Perth; 23Genetic Research Laboratory, Institute of Legal Medicine, Medical Faculty (Charité), Humboldt-University Berlin, Berlin; 24Institute of Molecular Biology and Genetics, National Academy of Science of Ukraine, Kiev; 25Department of Medical Biology and Genetics, Medical Academy of Latvia, Riga; 26Center of Human Genetics, University of Vilnius, Vilnius, Lithuania; 27Department of Biology, University of Rome “Tor Vergata,” Rome; 28The Cyprus Institute of Neurology and Genetics, Nicosia; 29Unité d'Immunogénétique Humaine, Institut Pasteur, Paris; 30Department of Medical Genetics, Kinderpoliklinik, Munich; 31La Trobe University, School of Genetics and Human Variation, Bundoora, Australia 32Department of Human Genetics, Memorial Sloan-Kettering Cancer Center, New York; 33Laboratory of Biological Anthropology, Institute of Forensic Medicine, University of Copenhagen, Copenhagen; 34Division of Medical Genetics, Department of Obstetrics and Gynaecology, Ljubljana, Slovenia; 35Dipartimento di Medicina Legale e Sanita Pubblica, Pavia, Italy; 36I.C. Biologice, Iasi, Romania; and 37Bogazici University, Department of Molecular Biology and Genetics, Istanbul

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Present affiliation: McDonald Institute for Archaeological Research, University of Cambridge, Cambridge.

Present affiliation: Department of Genetics, University of Leicester, Leicester, United Kingdom.

Present affiliation: Max Planck Institute for Evolutionary Anthropology, Department of Evolutionary Genetics, Leipzig.

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Present affiliation: Departamento de Biologia Geral, Instituto Ciências Biológicas/Universidade Federal de Minas Gerais, Minas Gerais, Brazil.