A genomic portrait of the Italian population

A new publication by our group reveals the fine grain details of the genetic history of  Italians and other Europeans.oil-paint-tube-02CROP-whiteImage Credit: Alessandro Corliano’

The area encapsulated by modern day Italy is characterised by a rich historical and archaeological record which originated over millennia as the combination of local developments and contributions from surrounding regions. Using genetic data collected from more than a thousand individuals across Italy we have now dissected and characterised the main “layers” composing the DNA make-up of the Italians, as described in our publication in Science Advances. In doing so we have identified unexpected contributions and confirmed previously reported signatures, providing a fine dissection of the ancestry profile of populations from Italy and the rest of Europe.

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Image Credit: Alessandro Corliano’

There are four main results emerging from our work:

  • The amount of differences among Italian groups are comparable to differences observed across European groups;
  • The mixing of populations played a key role in shaping the distribution of variation observed.
  • We detected the presence of a novel ancient component in Italy, more so in the genomes of modern Southern Italians;
  • The genetic legacy of Neanderthals varies across Italy and Europe.

We are now working to further characterise the novel additional component using modern and ancient DNA samples from Italy.

We have prepared a set of FAQs that should offer additional information on the project and its implications, which can be accessed here (English: Italiano).

The genome-wide data presented for the first time in this work can be downloaded here

The article can be accessed here

“Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe” Sci. Adv. 2019; 5 : eaaw3492

A. Raveane*†, S. Aneli*†, F. Montinaro*†, G. Athanasiadis, S. Barlera, G. Birolo, G. Boncoraglio, A. M. Di Blasio, C. Di Gaetano, L. Pagani, S. Parolo, P. Paschou, A. Piazza, G. Stamatoyannopoulos, A. Angius, N. Brucato, F. Cucca, G. Hellenthal, A. Mulas, M. Peyret-Guzzon, M. Zoledziewska, A. Baali, C. Bycroft, M. Cherkaoui, J. Chiaroni, J. Di Cristofaro, C. Dina, J. M. Dugoujon, P. Galan, J. Giemza, T. Kivisild, S. Mazieres, M. Melhaoui, M. Metspalu, S. Myers, L. Pereira, F. X. Ricaut, F. Brisighelli, I. Cardinali, V. Grugni, H. Lancioni, V. L. Pascali, A. Torroni, O. Semino, G. Matullo¶, A. Achilli¶, A. Olivieri¶, C. Capelli

*Corresponding author.
†These authors contributed equally to this work
¶Co-senior author.