Y-chromosome diversity in modern Bulgarians: new clues about their ancestry.

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....

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Autores principales:	Sena Karachanak, Viola Grugni, Simona Fornarino, Desislava Nesheva, Nadia Al-Zahery, Vincenza Battaglia, Valeria Carossa, Yordan Yordanov, Antonio Torroni, Angel S Galabov, Draga Toncheva, Ornella Semino
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2013
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/5e22306e87604d948684e910c0aca0c3
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spelling	oai:doaj.org-article:5e22306e87604d948684e910c0aca0c32021-11-18T07:54:43ZY-chromosome diversity in modern Bulgarians: new clues about their ancestry.1932-620310.1371/journal.pone.0056779https://doaj.org/article/5e22306e87604d948684e910c0aca0c32013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23483890/?tool=EBIhttps://doaj.org/toc/1932-6203To 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.Sena KarachanakViola GrugniSimona FornarinoDesislava NeshevaNadia Al-ZaheryVincenza BattagliaValeria CarossaYordan YordanovAntonio TorroniAngel S GalabovDraga TonchevaOrnella SeminoPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 3, p e56779 (2013)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sena Karachanak Viola Grugni Simona Fornarino Desislava Nesheva Nadia Al-Zahery Vincenza Battaglia Valeria Carossa Yordan Yordanov Antonio Torroni Angel S Galabov Draga Toncheva Ornella Semino Y-chromosome diversity in modern Bulgarians: new clues about their ancestry.
description	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.
format	article
author	Sena Karachanak Viola Grugni Simona Fornarino Desislava Nesheva Nadia Al-Zahery Vincenza Battaglia Valeria Carossa Yordan Yordanov Antonio Torroni Angel S Galabov Draga Toncheva Ornella Semino
author_facet	Sena Karachanak Viola Grugni Simona Fornarino Desislava Nesheva Nadia Al-Zahery Vincenza Battaglia Valeria Carossa Yordan Yordanov Antonio Torroni Angel S Galabov Draga Toncheva Ornella Semino
author_sort	Sena Karachanak
title	Y-chromosome diversity in modern Bulgarians: new clues about their ancestry.
title_short	Y-chromosome diversity in modern Bulgarians: new clues about their ancestry.
title_full	Y-chromosome diversity in modern Bulgarians: new clues about their ancestry.
title_fullStr	Y-chromosome diversity in modern Bulgarians: new clues about their ancestry.
title_full_unstemmed	Y-chromosome diversity in modern Bulgarians: new clues about their ancestry.
title_sort	y-chromosome diversity in modern bulgarians: new clues about their ancestry.
publisher	Public Library of Science (PLoS)
publishDate	2013
url	https://doaj.org/article/5e22306e87604d948684e910c0aca0c3
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Y-chromosome diversity in modern Bulgarians: new clues about their ancestry.

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