17 research outputs found

    Reconstructing the genetic history of Italians: new insights from a male (Y-chromosome) perspective

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    <p><b>Background:</b> Due to its central and strategic position in Europe and in the Mediterranean Basin, the Italian Peninsula played a pivotal role in the first peopling of the European continent and has been a crossroad of peoples and cultures since then.</p> <p><b>Aim:</b> This study aims to gain more information on the genetic structure of modern Italian populations and to shed light on the migration/expansion events that led to their formation.</p> <p><b>Subjects and methods:</b> High resolution Y-chromosome variation analysis in 817 unrelated males from 10 informative areas of Italy was performed. Haplogroup frequencies and microsatellite haplotypes were used, together with available data from the literature, to evaluate Mediterranean and European inputs and date their arrivals.</p> <p><b>Results:</b> Fifty-three distinct Y-chromosome lineages were identified. Their distribution is in general agreement with geography, southern populations being more differentiated than northern ones.</p> <p><b>Conclusions:</b> A complex genetic structure reflecting the multifaceted peopling pattern of the Peninsula emerged: southern populations show high similarity with those from the Middle East and Southern Balkans, while those from Northern Italy are close to populations of North-Western Europe and the Northern Balkans. Interestingly, the population of Volterra, an ancient town of Etruscan origin in Tuscany, displays a unique Y-chromosomal genetic structure.</p

    MultiDimensional Scaling (MDS) plot.

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    <p>Analysis was based on the pairwise R<sub>ST</sub> genetic distance matrix calculated on eight STR <i>loci</i> haplotypes of haplogroup Q samples from Panama and neighbouring countries (<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0144223#pone.0144223.s006" target="_blank">S3 Table</a>). Panamanian provinces are indicated in bold. The neighbouring provinces of Herrera and Los Santos were pooled to reach the minimum number of four samples per considered area. The province of Darién was not considered, being represented by only one sample. Stress value: 0.251. In the inset, the physical map of Panama (from NASA Earth Observatory: <a href="http://earthobservatory.nasa.gov/" target="_blank">http://earthobservatory.nasa.gov/</a>).</p

    Principal Coordinates (PCo) plots.

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    <p>Analysis was performed on the 33 STR <i>loci</i> haplotypes (<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0144223#pone.0144223.s004" target="_blank">S1 Table</a>) screened here together with those previously typed by Battaglia et al. [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0144223#pone.0144223.ref043" target="_blank">43</a>]. On the whole, 46.13% of the total variance is represented: 25.62% by the first PCo and 20.51% by the second PCo. Plots are in relation to haplogroup affiliation (A), macrogeographic distribution (B), and Panamanian province distribution in the Central-South American context (C). In panel A, yellow squares are the Panamanian Y chromosomes predicted as belonging to haplogroup Q and not further sub-classified; dotted yellow squares indicate six samples (two of these are completely overlapping) characterized by the DYS391-6 allele. The tree on the right illustrates the phylogenetic relationships among haplogroups. Nomenclature is in agreement with Battaglia et al. [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0144223#pone.0144223.ref043" target="_blank">43</a>]. In panel B, Panamanian samples are represented by yellow symbols: squares are for predicted haplotypes and circles for haplotypes that were instead classified by SNP analysis [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0144223#pone.0144223.ref043" target="_blank">43</a>]. South East America includes Argentina, Brazil, Paraguay and Uruguay; Central America includes Costa Rica, El Salvador, Guatemala and Nicaragua [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0144223#pone.0144223.ref043" target="_blank">43</a>].</p

    Network of Panamanian Q STR haplotypes.

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    <p>The analysis was performed on 15 <i>loci</i> (<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0144223#pone.0144223.s004" target="_blank">S1 Table</a>). Samples were subdivided according to their PGF birthplaces, marked by different colours. The size of each circle is proportional to the haplotype frequency; the smallest circle is equal to one subject. The coalescence time estimates of the three branches were obtained by using the rho statistic and the 15 STRs <i>loci</i> considered in this analysis.</p

    Combined analysis of Y-chromosome and mtDNA components.

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    <p>Analysis was performed on the male individuals classified in the present paper for Y-chromosome haplogroups and by Perego et al.[<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0144223#pone.0144223.ref003" target="_blank">3</a>] for mtDNA haplogroups (<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0144223#pone.0144223.s004" target="_blank">S1 Table</a>). (A): along the X-axis subjects are classified on the basis of the Y-chromosome component they belong to; on the Y-axis the coloured portions of the histogram indicate the percentage of each mtDNA component (<i>e</i>.<i>g</i>. almost the totality of males carrying a Native Y-chromosome haplogroup have also a Native mtDNA). (B): on the X-axis subjects are classified according to the mtDNA component they belong to; along the Y-axis coloured portions indicate the percentage of each Y-chromosome component. In the inset plot the Eurasian component has been split into North West Eurasian and South West Eurasian / North African components.</p

    Spatial distributions of Y-chromosome components in Panama.

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    <p>Bars show Native American (violet), West Eurasian/North African (green), sub-Saharan African (yellow) and South Asian (light blue) components in each province or comarca. In grey the Y-chromosome portion with discordant haplogroup predictions. The physical map of Panama is from NASA Earth Observatory (<a href="http://earthobservatory.nasa.gov/" target="_blank">http://earthobservatory.nasa.gov/</a>).</p

    Principal Components (PC) plot based on the predicted Y-chromosome haplogroup frequencies.

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    <p>Numbers in parentheses indicate the proportion of the total genetic information retained by a given PC. The inset plot illustrates the contribution of each haplogroup. Red diamonds are for Panamanian groups; blue circles are for neighbouring countries.</p
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