Abstract
Due to their strategic geographic location between three different continents, Sicily and Southern Italy have long represented a major Mediterranean crossroad where different peoples and cultures came together over time. However, its multi-layered history of migration pathways and cultural exchanges, has made the reconstruction of its genetic history and population structure extremely controversial and widely debated. To address this debate, we surveyed the genetic variability of 326 accurately selected individuals from 8 different provinces of Sicily and Southern Italy, through a comprehensive evaluation of both Y-chromosome and mtDNA genomes. The main goal was to investigate the structuring of maternal and paternal genetic pools within Sicily and Southern Italy, and to examine their degrees of interaction with other Mediterranean populations. Our findings show high levels of within-population variability, coupled with the lack of significant genetic sub-structures both within Sicily, as well as between Sicily and Southern Italy. When Sicilian and Southern Italian populations were contextualized within the Euro-Mediterranean genetic space, we observed different historical dynamics for maternal and paternal inheritances. Y-chromosome results highlight a significant genetic differentiation between the North-Western and South-Eastern part of the Mediterranean, the Italian Peninsula occupying an intermediate position therein. In particular, Sicily and Southern Italy reveal a shared paternal genetic background with the Balkan Peninsula and the time estimates of main Y-chromosome lineages signal paternal genetic traces of Neolithic and post-Neolithic migration events. On the contrary, despite showing some correspondence with its paternal counterpart, mtDNA reveals a substantially homogeneous genetic landscape, which may reflect older population events or different demographic dynamics between males and females. Overall, both uniparental genetic structures and TMRCA estimates confirm the role of Sicily and Southern Italy as an ancient Mediterranean melting pot for genes and cultures.
Highlights
Due to their central geographic location in the Mediterranean domain, Sicily and Southern Italy hosted various human groups in both prehistoric and historic times [1], acting as an important crossroad for different population movements involving Europe, North-Africa and the Levant.The first unquestioned colonization of Sicily has been linked to the Palaeolithic, and in particular to Epigravettian human groups coming from the mainland and entering Sicily through the present-day Strait of Messina [2,3]
All these paternal lineages reportedly originated in Europe or in the Near East, whereas much lower it seems to be the African paternal contribution, mainly represented by haplogroups belonging to HG-E sub-lineages (E-V12, 2.76%; E-V22, 2.15%; E-M81, 1.53%)
Contrary to what previously reported in literature [8], no differential distribution of Y-chromosome lineages has been found in our dataset
Summary
Due to their central geographic location in the Mediterranean domain, Sicily and Southern Italy hosted various human groups in both prehistoric and historic times [1], acting as an important crossroad for different population movements involving Europe, North-Africa and the Levant.The first unquestioned colonization of Sicily has been linked to the Palaeolithic, and in particular to Epigravettian human groups coming from the mainland and entering Sicily through the present-day Strait of Messina [2,3]. Due to their central geographic location in the Mediterranean domain, Sicily and Southern Italy hosted various human groups in both prehistoric and historic times [1], acting as an important crossroad for different population movements involving Europe, North-Africa and the Levant. Among the well-documented historical events, at least four main migration processes could potentially have affected the current genetic variability of the area: i) the massive occupation of Greeks (giving rise to the ‘‘Magna-Graecia’’) started in the 8th century BC from the Southern Balkans; ii) the Phoenician and Carthaginian colonization of the western part of Sicily occurred since the first millennium BC from the Levant through North Africa; iii) the Roman and post-Roman (Germanic) invasions from continental Italy and Central-Western Europe between the 300 BC and 500 AD; and iv) the more recent Muslim and Norman conquests of Sicily and Southern Italy in 8th–9th and 11th–12th centuries AD respectively. If on one hand the Greek colonisation of the south-eastern regions vs. the Phoenician occupation of western Sicily could have caused internal east-west cultural differentiation, on the other hand the later conquests (such as Germanic, Islamic and Norman occupations) may have contributed to reshape at different levels the genetic landscape of one of the largest Mediterranean islands, albeit their relative impacts remain still questioned
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
