Abstract
BackgroundAccording to archaeological records and historical documentation, Italy has been a melting point for populations of different geographical and ethnic matrices. Although Italy has been a favorite subject for numerous population genetic studies, genetic patterns have never been analyzed comprehensively, including uniparental and autosomal markers throughout the country.Methods/Principal FindingsA total of 583 individuals were sampled from across the Italian Peninsula, from ten distant (if homogeneous by language) ethnic communities — and from two linguistic isolates (Ladins, Grecani Salentini). All samples were first typed for the mitochondrial DNA (mtDNA) control region and selected coding region SNPs (mtSNPs). This data was pooled for analysis with 3,778 mtDNA control-region profiles collected from the literature. Secondly, a set of Y-chromosome SNPs and STRs were also analyzed in 479 individuals together with a panel of autosomal ancestry informative markers (AIMs) from 441 samples. The resulting genetic record reveals clines of genetic frequencies laid according to the latitude slant along continental Italy – probably generated by demographical events dating back to the Neolithic. The Ladins showed distinctive, if more recent structure. The Neolithic contribution was estimated for the Y-chromosome as 14.5% and for mtDNA as 10.5%. Y-chromosome data showed larger differentiation between North, Center and South than mtDNA. AIMs detected a minor sub-Saharan component; this is however higher than for other European non-Mediterranean populations. The same signal of sub-Saharan heritage was also evident in uniparental markers.Conclusions/SignificanceItaly shows patterns of molecular variation mirroring other European countries, although some heterogeneity exists based on different analysis and molecular markers. From North to South, Italy shows clinal patterns that were most likely modulated during Neolithic times.
Highlights
Has historically been a convenient destination for human populations migrating from Africa, the Middle East and European locations, in part due to the geomorphological characteristics of the Italian Peninsula [1]
Diversity indices were computed for all the populations analyzed in the present study and in those Italian populations samples reported in the literature (Tables 1 and 2)
Population samples were grouped in main regions (North, Central, South, West, and East) in order to investigate the role of geography in the distribution of mitochondrial DNA (mtDNA) variation
Summary
Has historically been a convenient destination for human populations migrating from Africa, the Middle East and European locations, in part due to the geomorphological characteristics of the Italian Peninsula [1]. These groups settled preferentially on the islands and coastal territories [1] 500,000 years ago (ya), that is, along the Lower Paleolithic, the longest period of human prehistory, which was dominated by the notable diffusion of tools made from flaked stone [2]. Has been a favorite subject for numerous population genetic studies, genetic patterns have never been analyzed comprehensively, including uniparental and autosomal markers throughout the country
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