Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata

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  • Alessio Boattini
  • Begoña Martinez-Cruz
  • Stefania Sarno
  • Christine Harmant
  • Antonella Useli
  • And 47 others
  • Paula Sanz
  • Daniele Yang-Yao
  • Jeremy Manry
  • Graziella Ciani
  • Donata Luiselli
  • Lluis Quintana-Murci
  • David Comas
  • Davide Pettener
  • Syama Adhikarla
  • Christina J. Adler
  • Elena Balanovska
  • Oleg Balanovsky
  • Jaume Bertranpetit
  • Andrew C. Clarke
  • Alan Cooper
  • Clio S.I. Der Sarkissian
  • Matthew C. Dulik
  • Jill B. Gaieski
  • Arun Kumar GaneshPrasad
  • Wolfgang Haak
  • Marc Haber
  • Li Jin
  • Matthew E. Kaplan
  • Hui Li
  • Shilin Li
  • Elizabeth A. Matisoo-Smith
  • Nirav C. Merchant
  • R. John Mitchell
  • Amanda C. Owings
  • Laxmi Parida
  • Ramasamy Pitchappan
  • Daniel E. Platt
  • Colin Renfrew
  • Daniela R. Lacerda
  • Ajay K. Royyuru
  • Fabrício R. Santos
  • Theodore G. Schurr
  • Himla Soodyall
  • David F.Soria Hernanz
  • Pandikumar Swamikrishnan
  • Chris Tyler-Smith
  • Arun Varatharajan Santhakumari
  • Pedro Paulo Vieira
  • Miguel G. Vilar
  • R. Spencer Wells
  • Pierre A. Zalloua
  • Janet S. Ziegle

Colleges, School and Institutes

External organisations

  • Università di Bologna
  • Pompeu Fabra University
  • Institut Pasteur, Paris
  • University of Sassari
  • Madurai Kamaraj University
  • The University of Adelaide
  • Research Centre for Medical Genetics
  • University of Otago
  • Pennsylvania State University
  • Lebanese American University
  • Fudan University
  • University of Arizona
  • AgriBio
  • IBM Rational
  • University of Cambridge
  • Federal University of Minas Gerais
  • National Health Laboratory Services
  • National Geographic Society
  • Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
  • Universidade Federal Do Rio de Janeiro (UFRJ)
  • Vitapath Genetics


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.


Original languageEnglish
Article numbere65441
JournalPLoS ONE
Issue number5
Publication statusPublished - 29 May 2013