The Mediterranean Sea has been one of the most important natural hubs for the expansion of human genes and cultures since the first dispersal of modern humans out of Africa. Accordingly, this area has received the increasing attention of population genetic studies, but the genetic puzzle of Mediterranean populations is far from being exhaustively resolved. To better understand origin, migration and admixture processes shaping the current genetic diversity of Mediterranean populations, further studies focused on specific geographic areas are therefore needed. In this context, Sicily (with South-Italy), due to its strategic position between three different continents, provides a key area in order to test hypotheses connected with the peopling events occurred in the Mediterranean domain. At the same time, however, its intricate history of migration pathways and cultural exchanges, makes the reconstruction of Sicilian genetic history and population structure highly controversial. Both presence and absence of an internal genetic differentiation along the East-West axis have been described. Several hypotheses connected with different dynamics of peopling have been proposed, but the extent of each independent historical contribution is still largely debated. To address this debate, the present study aims at investigating the potential impact of different influences in Sicily and South-Italy, by using a new accurately selected set of samples and analyzing both the uniparental systems, being them potentially responsible for different paths of genetic introgression. More than 300 individuals, selected according to the standard grandparents criterion, have been collected from 8 different locations of Sicily and South-Italy and typed for 42 Y-SNPs and 17 Y-STRs, as well as for HVRI-II regions and 19 coding SNPs of mtDNA. The obtained dataset was used to 1) describe the genetic structure and compare it with results from literature, in order to distinguish homogeneous or discontinuous pattern of genetic variation; 2) try to disentangle the different genetic layers enclosed within the Sicilian genetic pool and clarify which of the several migratory paths contributed more to the current genetic composition; 3) characterize gender-specific proportion of genetic variation which could account for any differential contributes from paternal and maternal lineages. Preliminary results reveal a substantial lack of genetic differentiation within the island, coupled with high levels of within-population genetic variability. Comparisons with other Mediterranean populations (Central-Western and Southern Europe, North Africa and the Levant) show a marked Y-chromosome geography-related global structure within the Mediterranean Basin, whereas a more homogeneous pattern of genetic variation is observed for mtDNA. Ongoing analyses will help to explore more in detail specific issues related to the peopling of Sicily and clarify its role in the Mediterranean genetic context

A Mediterranean melting pot. Excavating uniparental genetic strata in Sicily and Southern Italy

SARNO, STEFANIA;BOATTINI, ALESSIO;CARTA, MARILISA;LUISELLI, DONATA;PETTENER, DAVIDE
2013

Abstract

The Mediterranean Sea has been one of the most important natural hubs for the expansion of human genes and cultures since the first dispersal of modern humans out of Africa. Accordingly, this area has received the increasing attention of population genetic studies, but the genetic puzzle of Mediterranean populations is far from being exhaustively resolved. To better understand origin, migration and admixture processes shaping the current genetic diversity of Mediterranean populations, further studies focused on specific geographic areas are therefore needed. In this context, Sicily (with South-Italy), due to its strategic position between three different continents, provides a key area in order to test hypotheses connected with the peopling events occurred in the Mediterranean domain. At the same time, however, its intricate history of migration pathways and cultural exchanges, makes the reconstruction of Sicilian genetic history and population structure highly controversial. Both presence and absence of an internal genetic differentiation along the East-West axis have been described. Several hypotheses connected with different dynamics of peopling have been proposed, but the extent of each independent historical contribution is still largely debated. To address this debate, the present study aims at investigating the potential impact of different influences in Sicily and South-Italy, by using a new accurately selected set of samples and analyzing both the uniparental systems, being them potentially responsible for different paths of genetic introgression. More than 300 individuals, selected according to the standard grandparents criterion, have been collected from 8 different locations of Sicily and South-Italy and typed for 42 Y-SNPs and 17 Y-STRs, as well as for HVRI-II regions and 19 coding SNPs of mtDNA. The obtained dataset was used to 1) describe the genetic structure and compare it with results from literature, in order to distinguish homogeneous or discontinuous pattern of genetic variation; 2) try to disentangle the different genetic layers enclosed within the Sicilian genetic pool and clarify which of the several migratory paths contributed more to the current genetic composition; 3) characterize gender-specific proportion of genetic variation which could account for any differential contributes from paternal and maternal lineages. Preliminary results reveal a substantial lack of genetic differentiation within the island, coupled with high levels of within-population genetic variability. Comparisons with other Mediterranean populations (Central-Western and Southern Europe, North Africa and the Levant) show a marked Y-chromosome geography-related global structure within the Mediterranean Basin, whereas a more homogeneous pattern of genetic variation is observed for mtDNA. Ongoing analyses will help to explore more in detail specific issues related to the peopling of Sicily and clarify its role in the Mediterranean genetic context
2013
Libro degli Abstract XX Congresso dell'AAI
59
60
Sarno S; Boattini A; Carta M; Ferri G; Alù M; Luiselli D; Pettener D.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/396908
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