16 research outputs found

    Y-Chromosome Diversity in Modern Bulgarians: New Clues about Their Ancestry

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    <div><p>To better define the structure and origin of the Bulgarian paternal gene pool, we have examined the Y-chromosome variation in 808 Bulgarian males. The analysis was performed by high-resolution genotyping of biallelic markers and by analyzing the STR variation within the most informative haplogroups. We found that the Y-chromosome gene pool in modern Bulgarians is primarily represented by Western Eurasian haplogroups with ∼ 40% belonging to haplogroups E-V13 and I-M423, and 20% to R-M17. Haplogroups common in the Middle East (J and G) and in South Western Asia (R-L23*) occur at frequencies of 19% and 5%, respectively. Haplogroups C, N and Q, distinctive for Altaic and Central Asian Turkic-speaking populations, occur at the negligible frequency of only 1.5%. Principal Component analyses group Bulgarians with European populations, apart from Central Asian Turkic-speaking groups and South Western Asia populations. Within the country, the genetic variation is structured in Western, Central and Eastern Bulgaria indicating that the Balkan Mountains have been permeable to human movements. The lineage analysis provided the following interesting results: (i) R-L23* is present in Eastern Bulgaria since the post glacial period; (ii) haplogroup E-V13 has a Mesolithic age in Bulgaria from where it expanded after the arrival of farming; (iii) haplogroup J-M241 probably reflects the Neolithic westward expansion of farmers from the earliest sites along the Black Sea. On the whole, in light of the most recent historical studies, which indicate a substantial proto-Bulgarian input to the contemporary Bulgarian people, our data suggest that a common paternal ancestry between the proto-Bulgarians and the Altaic and Central Asian Turkic-speaking populations either did not exist or was negligible.</p> </div

    Frequency and variance distributions of haplogroup J lineages observed in Iran together with the relative networks of the associated STR haplotypes.

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    <p>Left panels: frequency distributions; central panels: variance distributions; right panels: networks. The areas of circles and sectors are proportional to the haplotype frequency in the haplogroup and in the geographic area, respectively, (for details about the colours, see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0041252#pone.0041252.s002" target="_blank">Figures S2</a>, <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0041252#pone.0041252.s003" target="_blank">S3</a>, <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0041252#pone.0041252.s004" target="_blank">S4</a>).</p

    Principal components plots based on Y-chromosome haplogroup frequencies.

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    <p>(A) African and Eurasian populations analyzed at the highest level of phylogenetic resolution, (B) Bulgaria in the European context, at a lower level of phylogenetic resolution, and (C) Bulgaria in the Asian context, based only on informative Asian markers. Data and abbreviations are provided in Tables 2–4. Numbers in brackets indicate the proportion of the total genetic information retained by a given PC. Inset plot illustrates the contribution of each haplogroup.</p

    AMOVA analysis.

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    <p>(A) Macro-geographic level: data from <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0041252#pone.0041252.s005" target="_blank">Table S1</a>. (B) Micro-geographic level: data from <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0041252#pone-0041252-t001" target="_blank">Table 1</a>.</p>*<p>p<0.05;</p>**<p>p<0.01.</p>a<p><b>Geographic groups:</b> Africa, Balkans, Caucasus, Central Asia, Europe, Italy, Middle East, Saudi Arabia, South Asia, Turkey.</p>b<p><b>Linguistic groups:</b> Albanian, Armenian, Austro-Asiatic, Burushaski, Cushitic, Dravidian, Georgian, Greek, Indo-Iranian, Italic, Semitic, Slavic, Tibeto-Burman, Turkic, Uralic.</p>c<p><b>Ethnic groups:</b> Afro-Iranians+Bandari, Arabs, Armenians, Assyrians, Azeris, Baluchs, Qeshmi, Gilaks, Kurds, Lurs, Mazandarani, Persians, Turkmens, and Zoroastrians.</p>d<p><b>Geographic groups:</b> Azerbaijan Gharbi, Fars, Gilan, Golestan, Hormozgan, Isfahan, Khorasan, Khuzestan, Kurdistan, Lorestan, Mazandaran, Sistan Baluchestan, Tehran, Yazd.</p>e<p><b>Linguistic groups:</b> Altaic (Golestan), Arab (Khuzestan), Armenian (Tehran Armenians), Assyrian (Azerbaijan Gharbi+Tehran Assyrians), Baluch (Sistan Baluchestan), Caspian (Gilan+Mazandaran), NW Iranian branch (Azeri+Kurds), Persian (Fars+Hormozgan+Isfahan+Khorasan+Yazd+Tehran Zoroastrians), SW Iranian branch (Lorestan).</p>f<p><b>Religious groups:</b> Muslim, Zoroastrian and Christian.</p

    Frequencies of the main Y-chromosome haplogroups in the whole Iranian population (inset pie), in the 14 Iranian provinces under study and in East Turkey [<b>23</b>], Iraq [<b>20</b>], Saudi Arabia [<b>26</b>] and Pakistan [<b>24</b>]).

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    <p>(a) Azeris and Assyrians, (b) Armenians, Assyrians and Zoroastrians, (c) Persians and Zoroastrians, (d) Bandari and Afro-Iranians. Pie areas are proportional to the population sample size (small pies, N<50; intermediate pies, 50100) and the areas of the sectors are proportional to the haplogroup frequencies in the relative population.</p
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