Peopling of three Mediterranean Islands (Corsica, Sardinia, and Sicily) inferred by Y‐chromosome biallelic variability

Abstract

An informative set of biallelic polymorphisms was used to study the structure of Y-chromosome variability in a sample from the Mediterranean islands of Corsica and Sicily, and compared with data on Sardinia to gain insights into the ethnogenesis of these island populations. The results were interpreted in a broader Mediterranean context by including in the analysis neighboring populations previously studied with the same methodology. All samples studied were enclosed in the comparable spectrum of European Y-chromosome variability. Pronounced differences were observed between the islands as well as in the percentages of haplotypes previously shown to have distinctive patterns of continental phylogeography. Approximately 60% of the Sicilian haplotypes are also prevalent in Southern Italy and Greece. Conversely, the Corsican sample had elevated levels of alternative haplotypes common in Northern Italy. Sardinia showed a haplotype ratio similar to that observed in Corsica, but with a remarkable difference in the presence of a lineage defined by marker M26, which approaches 35% in Sardinia but seems absent in Corsica. Although geographically adjacent, the data suggest different colonization histories and a minimal amount of recent gene flow between them. Our results identify possible ancestral continental sources of the various island populations and underscore the influence of founder effect and genetic drift. The Y-chromosome data are consistent with comparable mtDNA data at the RFLP haplogroup level of resolution, as well as linguistic and historic knowledge.

The ins and outs of population relationships in west-Mediterranean islands: data from autosomal Alu polymorphisms and Alu/STR compound systems

“…In the case of Sicily, historical records also indicate an important retreat of the original Sicanian population due to the arrival of the continental Italian Sicels. Our results concur with evidence based on Ychromosome haplotypes (Francalacci et al 2003) and mtDNA (Morelli et al 2000) that point out Sardinia and Sicily as the most differentiated populations in the westMediterranean basin.…”

“…More recently, DNA studies have added more data without conclusive results. Francalacci et al (2003) conducted a survey of Y-chromosome haplotypes in several samples from Corsica, Sicily and central Sardinia. Their main findings underline the differentiation of Sardinians and Sicilians from other Mediterraneans, whereas Corsica remains more similar to continental Italy and French samples, excluding the possibility of significant gene flow from central Sardinia to north-central Corsica.…”

Reduced genetic structure of the Iberian peninsula revealed by Y-chromosome analysis: implications for population demography

“…The Y-chromosome variation landscape in Iberia was also evaluated using principal component analysis, which included samples with highly resolved Y-chromosome data from Europe (78 Sardinians 45 (Figure 4). The main determinant Hg's of the clustering are Hg R1*(xR1a), which plays an important role in both components, Hg's J*(xJ2) and J2, and E3*(xE3a).…”

?-globin gene cluster haplotypes associated with ?-thalassemia on Corsica island

“…Our results show a significant impact of founder effect in the Central Corsican population, which is genetically, demographically, and geographically isolated. These results were carried out using classical genetic markers [23,26,27], mtDNA [50,51], Y-chromosome [52,53], and b-globin haplotypes [54]. By studying the b-globin gene haplotypes in the Corsican population, some conclusions may be reached: (1) The b-globin cluster, showed a significant correlation between the b 0 -39 mutation and the haplotype II.…”