Admixture layers in Sicily and Southern Italy trace multiple migration routes along the Mediterranean – The ‘Mediterranean genetic continuum’

The Mediterranean Sea has represented one of the most important crossroads in human history, acting both as a barrier and a bridge between three continents and multiple human groups characterized by different genetic and cultural backgrounds.


Despite this complex history and despite modern national borders, there is a shared Mediterranean genetic continuity, extending from Sicily to Cyprus, where the populations of certain Greek-speaking islands appear genetically closer to Southern Italian populations than to populations from continental Greece. This is a central finding of a new study published in Scientific Reports, co-authored by Chiara Barbieri, researcher from the Max Planck Institute for the Science of Human History in Jena, coordinated by the Human Biodiversity and Population Genomics group at the Department of Biological, Geological and Environmental Sciences (BiGeA) of the University of Bologna, and funded by the National Geographic Society.

The study describes the genetic fingerprints of the Mediterranean people with high-density genomic markers and a wide sample of modern populations from Sicily and Southern Italy. Their genetic profiles were analyzed to reconstruct the combination of ancestry components and the demographic history of the region. As one would expect, populations inhabiting the southeastern shores of Europe are the result of a complex, multi-layered history. One of these layers corresponds to a shared genetic background, extending from Sicily to Cyprus and involving Crete, the Aegean islands and Anatolia. “This shared Mediterranean ancestry possibly traces back to prehistoric times, as the result of multiple migration waves, with peaks during the Neolithic and the Bronze Age,” says Stefania Sarno, researcher from the University of Bologna and lead author of the study. Apparently, the ancient Greek expansions (during the Magna Graecia foundation) were only one of the last events in a long history of East-West movements, where the Mediterranean Sea served as a preferential crossroads for the circulation of genes and cultures.



Abstract The Mediterranean shores stretching between Sicily, Southern Italy and the Southern Balkans witnessed a long series of migration processes and cultural exchanges. Accordingly, present-day population diversity is composed by multiple genetic layers, which make the deciphering of different ancestral and historical contributes particularly challenging. We address this issue by genotyping 511 samples from 23 populations of Sicily, Southern Italy, Greece and Albania with the Illumina GenoChip Array, also including new samples from Albanian- and Greek-speaking ethno-linguistic minorities of Southern Italy. Our results reveal a shared Mediterranean genetic continuity, extending from Sicily to Cyprus, where Southern Italian populations appear genetically closer to Greek-speaking islands than to continental Greece. Besides a predominant Neolithic background, we identify traces of Post-Neolithic Levantine- and Caucasus-related ancestries, compatible with maritime Bronze-Age migrations. We argue that these results may have important implications in the cultural history of Europe, such as in the diffusion of some Indo-European languages. Instead, recent historical expansions from North-Eastern Europe account for the observed differentiation of present-day continental Southern Balkan groups. Patterns of IBD-sharing directly reconnect Albanian-speaking Arbereshe with a recent Balkan-source origin, while Greek-speaking communities of Southern Italy cluster with their Italian-speaking neighbours suggesting a long-term history of presence in Southern Italy.


Introduction The cross-cultural gateway linking Southern Italy with the south of the Balkans and the Aegean Greek Islands represented the theatre of multi-layered migrations of peoples and cultures both in pre-historical and historical times (e.g. Greek, Phoenician and Carthaginian colonization, Roman, Arab and Norman conquest). Our previous investigations based on uniparental and autosomal markers revealed high levels of within-population variability, coupled with the lack of significant genetic sub-structures among Southern Italian groups. Importantly, age estimates for the major paternal lineages pointed to genetic links between Sicily and Southern Italy with the South-Eastern Mediterranean, tracing back to Neolithic and especially post-Neolithic time frames while maternal lineages provided a similar link with the East from the early Neolithic and post-glacial recolonization events.

Additionally to long-term processes of gene flow and admixture, the genetic structure of the populations currently inhabiting the area has been impacted by recent events of cultural isolation and local differentiation. This is documented, for instance, by the presence of two of the largest ethno-linguistic minorities of Italy. Albanian-speaking Arbereshe represent ethno-linguistic enclaves today surviving in few municipalities of the provinces of Palermo (Sicily) and Cosenza (Calabria, Southern Italy). Their migration history is quite well documented and established in terms of both times and routes of diffusion. They originated from multiple migration waves of Albanians, coming directly from Toskeria (Southern Albania) or arrived after intermediate stopovers in Greece (particularly for Sicilian Arbereshe), occurred in the 15th-16th centuries in response of the Ottoman Empire invasion of the Balkans. The Greek-speaking ethno-linguistic minorities instead represent Hellenic islands persisting in few municipalities of Salento (province of Lecce, Apulia, where they speak Griko) and Bovesia (province of Reggio Calabria, Calabria, where they speak Grecanic). Their uncertain origins have been related either to i) the ancient Magna Graecia foundation, ii) the subsequent Byzantine domination, or iii) the infiltration of Byzantine strata onto a pre-existing Magna Graecia matrix. Previous studies based on uniparental markers agreed with historical data in revealing signatures of a Balkan genetic heritage in the Southern Italian Arbereshe ethno-linguistic groups. On the other hand, traces of the Greek colonization remain clearly visible in the historical and cultural heritage of Southern Italy (e.g. archaeological remains, architectural legacy, toponymic inventory, etc.) and particularly in the presence of Greek-speaking minorities. However, the demographic impact and genetic ancestry of the Greek source is still largely debated on both historical and population genetics viewpoints.

In this study, we genotyped 511 samples belonging to 23 populations from Sicily, Southern Italy, Albania and Greece, as well as from Italian Arbereshe and Greek-speaking ethno-linguistic groups.


Results and discussion Sicily and Southern Italy (SSI) appear as belonging to a wide and homogeneous genetic domain, which is shared by large portions of the present-day South-Eastern Euro-Mediterranean area, extending from Sicily to Cyprus, through Crete, Aegean-Dodecanese and Anatolian Greek Islands. We will refer to this domain as ‘Mediterranean genetic continuum’. On the other hand, the continental part of Greece, including Peloponnesus, appears as slightly differentiated, by clustering with the other Southern Balkan populations of Albania and Kosovo. Finally, North-Central Balkan groups (Southern Slavic-speakers and Romanians) show affinity to Eastern Europeans.

All populations from Southern Italy (SSI), Greece (both mainland and insular) and Southern Balkans share a predominant Sardinian (Neolithic-like) genetic component which accounts for more than half of their ancestry. This is followed by a relevant Caucasian-like ancestry, which is present at around 24% in all our population samples. The other two major components instead show opposite patterns. The Near Eastern-like ancestry is more frequent in SSI and the Greek-speaking islands (i.e. the ‘Mediterranean continuum’), whereas increasing frequencies of the European-like component are observed in Albanians and mainland Greeks as well as in the rest of the Balkan Peninsula.

Interestingly, Grecani of Calabria (GRI_BOV and GRI_CAL) and Cypriots share lower frequencies of the European-like ancestry (2.5% and 0.5%, respectively) compared to the other surrounding populations (Southern Italy: ~8%; Continental Greece and Albanians: ~15%).

FineSTRUCTURE results reconnect virtually all the individuals from Albanian and Kosovo, as well as the major part of individuals from mainland Greek populations, to a Southern-Balkan specific cluster, which is almost completely absent in Greek-speaking islands and Southern Italy (except for Calabrian Arbereshe), instead showing relatively more similarity with Northern Italian populations.

On the other hand, individuals from SSI, Crete and the Aegean/Dodecanese Greek Islands are mostly assigned to two other groups. The first one is observed mainly in Central-Eastern Sicily and Calabria (excluding Calabrian Greeks), jointly with various Cretan and Anatolian/Dodecanese Greeks.

The second one encompasses individuals from the geographically opposed areas of Basilicata/Apulia (including Salentino Greeks) and Western Sicily (most notably Sicilian Arbereshe), as well as the remaining individuals from both continental and insular Greece. Importantly, these clusters appear tightly related with each other, showing some degree of admixture within a genetically continuous area.

The AW-Sicily cluster is more properly related to all the Greek-speaking populations (not only Crete and Aegean/Dodecanese Greeks, but also Continental Greece), while the CE-Sicily one is essentially observed in the Mediterranean ‘continuum’ populations (i.e. Southern Italy and Greek-speaking islands). Finally, Cypriots and Calabrian Greeks exhibit private population-specific genetic clusters.

Albanian-speaking groups of Southern Italy display a recent shared ancestry traceable to their putative Balkan-source populations.

fastIBD analysis flags Albania as the source of the recent gene flow that differentiates Albanian-speaking Arbereshe from all the other Southern Italian populations, either Greek- or Italian-speaking. However, Calabrian and Sicilian Arbereshe reveal some differences in haplotype sharing patterns, presumptively reflecting their diverging population history.

While Albanian-speaking Arbereshe trace their recent genetic ancestry to the Southern Balkans, the Greek-speaking communities of both Apulia (Griko) and Calabria (Grecani) show no clear signs of a recent (i.e. from the late Middle Ages) continental Greek origin, instead resembling the ‘continuum’ populations of Southern Italy and the Greek-speaking islands.

Furthermore, we observed that both Calabrian and Apulian Greeks from Southern Italy almost completely lack the ‘Southern Balkan’ genetic component detected in Continental Greece and Albania, as well as in the Arbereshe. In both cases, this is consistent with the fact that their arrival in Southern Italy should at least predate those population processes associated to the more recent (i.e. late medieval) differentiation of continental Greek and Southern Balkan groups. This does not exclude migrations from Aegean/Dodecanese and Crete islands, that presumptively did not (or only marginally) experienced – by virtue of their higher geographic marginality – the North-South Balkan gene flow that instead interested the continental part of Greece.


Conclusions Our results demonstrate that the genetic variability of present-day Southern Italian populations is characterized by a shared genetic continuity, extending to large portions of central and eastern Mediterranean shores. This area, which is cored in Southern Italy and the Greek-speaking islands, exceeds cross-linguistic differences, encompassing populations belonging to different Indo-European subfamilies (Greek, Romance, Albanian). Noticeably, Southern Italy appear more similar to the Greek-speaking islands of the Mediterranean Sea, reaching as far east as Cyprus, than to samples from continental Greece, suggesting a possible ancestral link which might have survived in a less admixed form in the islands. Their genetic ancestry traces its heritage to complex and extensive patterns of pre- and proto-historical admixture. Besides a predominant Neolithic-like component, our analyses reveal significant impacts of Post-Neolithic Caucasus- and Levantine-related ancestries, which might be further addressed by future studies with a higher sample coverage for a precise contextualization in time and space and by integrating multiple lines of evidence from different disciplines (e.g. linguistics, archaeology, paleogenomics). More recent historical expansions from Continental Europe added further admixture layers, accounting for the genetic and cultural complexity that currently differentiates present-day Southern Balkan and Southern Italian populations.

This complex genetic scenario opens new insights into the recent cultural transformations associated to the Greek- and Albanian-introgressions in Southern Italy that originated the Italian Arbereshe and Greek-speaking ethno-linguistic minorities. Overall, Arbereshe groups confirm the Southern Balkan genetic characterization typical of their putative source populations, whereas Italian Greeks are related to the Mediterranean ‘genetic continuum’ (i.e. to Southern Italians and the Greek-speaking islands); as a consequence, their arrival in Southern Italy could at least predate the recent differentiation of mainland Greece. A possible key of interpretation would stress the Mediterranean genetic signal as the result of ancient links, which were partly modified by more recent historical movements in the Southern Balkans involving Continental Greece and Albania. In this light, the genetic similarity between Greek- and Italian-speaking groups of Southern Italy may suggest long-standing genetic and cultural exchanges originally diffused over the whole region, also outside the ethno-linguistic enclaves that survived until the present times. This would not exclude that continuous interactions between the Italian- and Greek-speaking populations of Southern Italy, especially in contexts of lower geographic isolation, contributed to their present-day genetic similarity in spite of the preserved linguistic differences. Additionally, Greeks from Calabria revealed remarkable signs of genetic drift, which are presumptively ascribable not only to cultural but also to geographic isolation. This fact led to their partial differentiation from their Italian local neighbours, despite common patterns of IBD-sharing.

While more specific hypotheses could be only elucidated by the discovery of new local sources of aDNA for testing explicit models, our results hint to some important implications from both genetic and cultural viewpoints, illustrating the different and complex dynamics that accompanied the formation of present-day cultural heritage, especially in contexts of extensive – both geographically and temporally – admixture. The genetic patterns observed in Southern Italy integrate the picture of the genomic structure of Europe and the Mediterranean, and support different histories behind the evolution of the Southern Italian ethno-linguistic minorities, moreover emphasizing the importance of considering complementary scales of investigations and detailed population samplings to assess demographic processes involving tightly related ancestries.

(Source: “Ancient and recent admixture layers in Sicily and Southern Italy trace multiple migration routes along the Mediterranean”, by Stefania Sarno et al.)


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.

(Source: “An Ancient Mediterranean Melting Pot: Investigating the Uniparental Genetic Structure and Population History of Sicily and Southern Italy”, by Stefania Sarno et al.)


Research-Selection for NovoScriptorium: Maximus E. Niles

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