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

2019/09/04 by Alessandro Raveane, Serena Aneli, Francesco Montinaro +45 · 4 citations
Biochemistry, Genetics and Molecular Biology · Earth and Planetary Sciences · #Forensic and Genetic Research #Archaeology and ancient environmental studies #Race, Genetics, and Society

paper · pdf · doi:10.1126/sciadv.aaw3492

openalex publication_date 2019/09/04 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

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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