[1]Alma Mater Studiorum Universita di Bologna, Department of Biology,Bologna,Italy
[2]Universitat Pompeu Fabra,Barcelona,Spain
[3]Universita degli Studi di Padova, Department of Biomedical Sciences,Padua,Italy
[4]Institut Pasteur, Paris, Unit of Human Evolutionary Genetics,Paris,France
[5]Universita degli Studi di Sassari, Dipartimento di Scienze della Natura e del Territorio,Sassari,Italy
[6]Erasmus MC University Medical Centre Rotterdam, Department of Forensic Molecular Biology,Rotterdam,Australia
[7]Alma Mater Studiorum Universita di Bologna, Department of Biological Sciences,Bologna,Italy
[8]McGill University Health Centre, Montreal, Program in Infectious Diseases and Immunity in Global Health,Montreal,Canada
[9]Alma Mater Studiorum Universita di Bologna,Bologna,Italy
[10]Madurai Kamaraj University,Madurai,India
[11]University of Adelaide,Adelaide,Australia
[12]Research Centre for Medical Genetics,Moscow,Russian Federation
[13]University of Otago,Dunedin,New Zealand
[14]University of Adelaide, Australian Centre for Ancient DNA,Adelaide,Australia
[15]Kobenhavns Universitet, Centre for GeoGenetics,Copenhagen,Denmark
[16]University of Pennsylvania, Department of Anthropology,Philadelphia,United States
[17]Max Planck Institute for the Science of Human History, Department for Archaeogenetics,Jena,Germany
[18]Fudan University, School of Life Sciences,Shanghai,China
[19]University of Arizona,Tucson,United States
[20]Fudan University, State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology,Shanghai,China
[21]La Trobe University,Melbourne,Australia
[22]International Business Machines,Armonk,United States
[23]IBM Thomas J. Watson Research Center,Yorktown Heights,United States
[24]University of Cambridge,Cambridge,United Kingdom
[25]Universidade Federal de Minas Gerais, Departamento de Biologia Geral,Belo Horizonte,Brazil
[26]National Health Laboratory Services, Division of Human Genetics,Johannesburg,South Africa
[27]National Geographic Society,Washington,United States
[28]Wellcome Trust Sanger Institute,Cambridge,United Kingdom
[29]Harvard University,Cambridge,United States
[30]Applied Biosystems USA,Foster City,United States
Located in the center of the Mediterranean landscape and with an extensive coastal line, the territory of what is today Italy has played an important role in the history of human settlements and movements of Southern Europe and the Mediterranean Basin. Populated since Paleolithic times, the complexity of human movements during the Neolithic, the Metal Ages and the most recent history of the two last millennia (involving the overlapping of different cultural and demic strata) has shaped the pattern of the modern Italian genetic structure. With the aim of disentangling this pattern and understanding which processes more importantly shaped the distribution of diversity, we have analyzed the uniparentally-inherited markers in ∼900 individuals from an extensive sampling across the Italian peninsula, Sardinia and Sicily. Spatial PCAs and DAPCs revealed a sex-biased pattern indicating different demographic histories for males and females. Besides the genetic outlier position of Sardinians, a North West-South East Y-chromosome structure is found in continental Italy. Such structure is in agreement with recent archeological syntheses indicating two independent and parallel processes of Neolithisation. In addition, date estimates pinpoint the importance of the cultural and demographic events during the late Neolithic and Metal Ages. On the other hand, mitochondrial diversity is distributed more homogeneously in agreement with older population events that might be related to the presence of an Italian Refugium during the last glacial period in Europe. © 2013 Boattini et al.
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