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.2016 Apr;24(4):600-6.
doi: 10.1038/ejhg.2015.138. Epub 2015 Jul 1.

Shared language, diverging genetic histories: high-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe

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Shared language, diverging genetic histories: high-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe

Stefania Sarno et al. Eur J Hum Genet.2016 Apr.

Abstract

The relationship between genetic and linguistic diversification in human populations has been often explored to interpret some specific issues in human history. The Albanian-speaking minorities of Sicily and Southern Italy (Arbereshe) constitute an important portion of the ethnolinguistic variability of Italy. Their linguistic isolation from neighboring Italian populations and their documented migration history, make such minorities particularly effective for investigating the interplay between cultural, geographic and historical factors. Nevertheless, the extent of Arbereshe genetic relationships with the Balkan homeland and the Italian recipient populations has been only partially investigated. In the present study we address the genetic history of Arbereshe people by combining highly resolved analyses of Y-chromosome lineages and extensive computer simulations. A large set of slow- and fast-evolving molecular markers was typed in different Arbereshe communities from Sicily and Southern Italy (Calabria), as well as in both the putative Balkan source and Italian sink populations. Our results revealed that the considered Arbereshe groups, despite speaking closely related languages and sharing common cultural features, actually experienced diverging genetic histories. The estimated proportions of genetic admixture confirm the tight relationship of Calabrian Arbereshe with modern Albanian populations, in accordance with linguistic hypotheses. On the other hand, population stratification and/or an increased permeability of linguistic and geographic barriers may be hypothesized for Sicilian groups, to account for their partial similarity with Greek populations and their higher levels of local admixture. These processes ultimately resulted in the differential acquisition or preservation of specific paternal lineages by the present-day Arbereshe communities.

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Figures

Figure 1
Figure 1
Sampling map showing the location of Arbershe groups, Balkan source and Italian recipient populations. The enlarged box at the top-left details the communities decomposition for each of the two Arbereshe groups. The table at the bottom of the plot outlines the sampling structure and the number of samples analyzed for each population. Population codes as in Supplementary Table S1.
Figure 2
Figure 2
Correspondence Analysis (CA) based on Y-chromosome haplogroup frequencies. Population codes as in Supplementary Table S1. Symbols and color codes as in the legends at the top-left. Abbreviations: ARB_CAL, Arbereshe of Calabria; ARB_SIC, Arbereshe of Sicily; SSI, Sicilians and Southern-Italians; ALB, Albanians; GRE, Greeks.
Figure 3
Figure 3
Admixture-like barplots for the Arbereshe groups (a) and the single-Arbereshe communities (b). The inferred cluster affiliation of each population (mclust algorithm) and the corresponding cluster's color code (1: black; 2: gray; 3: white) are represented by numbers (within colored squares) at the top of each bar. The probability (DAPC-based posterior membership probabilities) of each population belonging to the inferred clusters is represented by vertical bars in the plot. Abbreviations: ARB_CAL, Arbereshe of Calabria; ARB_SIC, Arbereshe of Sicily; CAL, Italians of Calabria; SIC, Italians of Sicily; GRE, Greeks; TOSK, Tosks. Codes for single-Arbereshe communities as in Supplementary Table S1.
Figure 4
Figure 4
Plots of observed and expected DHS values for fitting scenarios under a stationary model. Evolutionary scenarios with the three putative source populations (Tosks, Ghegs and a 50% random blend of Tosks and Greeks) were compared for those models (bold in Table 1) showing at least one fit in the simulations results: (a) Calabria SNPs 5%, (b) Sicily SNPs 50% and (c) Calabria STRs 20–30%. The SD intervals of the simulated distributions are represented by vertical bars. Observed DHS values are represented by symbols filled in black or white depending on whether or not they match the simulated intervals. Squares and diamonds stand for Calabrian and Sicilian Arbereshe, respectively.
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References

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