Abstract
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.
Highlights
IntroductionDue to its central position and to the extension of its coastal line (,7,460 Km), the modern Republic of Italy – e.g. the Italian Peninsula and the two major islands of Sicily and Sardinia – has been one of the focal points in the settlement history of Southern Europe and the Mediterranean Basin
Due to its central position and to the extension of its coastal line (,7,460 Km), the modern Republic of Italy – e.g. the Italian Peninsula and the two major islands of Sicily and Sardinia – has been one of the focal points in the settlement history of Southern Europe and the Mediterranean Basin.Populated by early modern humans since approximately 30,000–40,000 years before present (YBP) [1] during the LGM (,25,000 YBP) it was involved in the southward contraction of human groups from Central Europe that rapidly retreated to the Mediterranean coastlines, occupying refuge areas, such as in the well-known cases of Iberia and the Balkans [2,3,4,5]
The most frequent haplogroups in Italy are R-U152* (12.1%), G-P15 (11.1%), E-V13 (7.8%) and J-M410* (7.6%). They are followed by three R1b-lineages (R-M269*, R-P312* and R-L2*), whose frequencies ranged from 6.9% to 5.7%; and from I-M26, which embraced more than the 4% of total variability
Summary
Due to its central position and to the extension of its coastal line (,7,460 Km), the modern Republic of Italy – e.g. the Italian Peninsula and the two major islands of Sicily and Sardinia – has been one of the focal points in the settlement history of Southern Europe and the Mediterranean Basin. Populated by early modern humans since approximately 30,000–40,000 years before present (YBP) [1] during the LGM (,25,000 YBP) it was involved in the southward contraction of human groups from Central Europe that rapidly retreated to the Mediterranean coastlines, occupying refuge areas, such as in the well-known cases of Iberia and the Balkans [2,3,4,5]. During the first millennium BC, Italy hosted a vast set of different peoples whose origins in some cases remain unknown (e.g. Etruscans, Ligurians, Veneti), while in other cases are the result of specific migration processes (Celts in North-Western Italy; Greeks in Southern Italy and Sicily) [11]
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