Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Alessandro Raveane(University of Pavia), Serena Aneli(University of Oxford), Francesco Montinaro(University of Oxford), Georgios Athanasiadis(Aarhus University), Simona Barlera(Mario Negri Institute for Pharmacological Research), Giovanni Birolo(Italian institute for Genomic Medicine), Giorgio B. Boncoraglio(Fondazione IRCCS Istituto Neurologico Carlo Besta), Anna Maria Di Blasio(IRCCS Istituto Auxologico Italiano), Cornelia Di Gaetano(Italian institute for Genomic Medicine), Luca Pagani(University of Padua), Silvia Parolo(National Research Council), Peristera Paschou(Purdue University West Lafayette), Alberto Piazza(Accademia Albertina delle Belle Arti), G Stamatoyannopoulos(University of Washington), Andrea Angius(Institute of Genetic and Biomedical Research), Nicolas Brucato(Centre National de la Recherche Scientifique), Francesco Cucca(Institute of Genetic and Biomedical Research), Garrett Hellenthal(University College London), Antonella Mulas(Institute of Genetic and Biomedical Research), Marine Peyret-Guzzon(Centre for Human Genetics), Magdalena Żołędziewska(Institute of Genetic and Biomedical Research), Abdellatif Baali(Cadi Ayyad University), Clare Bycroft(Centre for Human Genetics), M. Cherkaoui(Cadi Ayyad University), Jacques Chiaroni(Centre National de la Recherche Scientifique), Julie Di Cristofaro(Centre National de la Recherche Scientifique), Christian Dina(Centre National de la Recherche Scientifique), Jean-Michel Dugoujon(Centre National de la Recherche Scientifique), Pilar Galán(Inserm), Joanna Giemza(Centre National de la Recherche Scientifique), Toomas Kivisild(Centre For Human Genetics), Stéphane Mazières(Centre National de la Recherche Scientifique), Mohammed Melhaoui(Mohamed I University), Mait Metspalu(Estonian Biocentre), Simon Myers(Centre for Human Genetics), Luı́sa Pereira(Universidade do Porto), François‐Xavier Ricaut(Centre National de la Recherche Scientifique), Francesca Brisighelli(Università Cattolica del Sacro Cuore), Irene Cardinali(University of Perugia), Viola Grugni(University of Pavia), Hovirag Lancioni(University of Perugia), Vincenzo L. Pascali(Università Cattolica del Sacro Cuore), Antonio Torroni(University of Pavia), Ornella Semino(University of Pavia), Giuseppe Matullo(Italian institute for Genomic Medicine), Alessandro Achilli(University of Pavia), Anna Olivieri(University of Pavia), Cristian Capelli(University of Oxford)
Science Advances
September 4, 2019
10.1126/sciadv.aaw3492
Cited by 78Open Access
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Abstract

European populations display low genetic differentiation as the result of long-term blending of their ancient founding ancestries. However, it is unclear how the combination of ancient ancestries related to early foragers, Neolithic farmers, and Bronze Age nomadic pastoralists can explain the distribution of genetic variation across Europe. Populations in natural crossroads like the Italian peninsula are expected to recapitulate the continental diversity, but have been systematically understudied. Here, we characterize the ancestry profiles of Italian populations using a genome-wide dataset representative of modern and ancient samples from across Italy, Europe, and the rest of the world. Italian genomes capture several ancient signatures, including a non-steppe contribution derived ultimately from the Caucasus. Differences in ancestry composition, as the result of migration and admixture, have generated in Italy the largest degree of population structure detected so far in the continent, as well as shaping the amount of Neanderthal DNA in modern-day populations.

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