New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.

<h4>Background</h4>R0 embraces the most common mitochondrial DNA (mtDNA) lineage in West Eurasia, namely, haplogroup H (approximately 40%). R0 sub-lineages are badly defined in the control region and therefore, the analysis of diagnostic coding region polymorphisms is needed in order to...

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Autores principales:	Vanesa Alvarez-Iglesias, Ana Mosquera-Miguel, Maria Cerezo, Beatriz Quintáns, Maria Teresa Zarrabeitia, Ivon Cuscó, Maria Victoria Lareu, Oscar García, Luis Pérez-Jurado, Angel Carracedo, Antonio Salas
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2009
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/718166ff36704c919ff1b423ad6b10de
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spelling	oai:doaj.org-article:718166ff36704c919ff1b423ad6b10de2021-11-25T06:16:20ZNew population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.1932-620310.1371/journal.pone.0005112https://doaj.org/article/718166ff36704c919ff1b423ad6b10de2009-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/19340307/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>R0 embraces the most common mitochondrial DNA (mtDNA) lineage in West Eurasia, namely, haplogroup H (approximately 40%). R0 sub-lineages are badly defined in the control region and therefore, the analysis of diagnostic coding region polymorphisms is needed in order to gain resolution in population and medical studies.<h4>Methodology/principal findings</h4>We sequenced the first hypervariable segment (HVS-I) of 518 individuals from different North Iberian regions. The mtDNAs belonging to R0 (approximately 57%) were further genotyped for a set of 71 coding region SNPs characterizing major and minor branches of R0. We found that the North Iberian Peninsula shows moderate levels of population stratification; for instance, haplogroup V reaches the highest frequency in Cantabria (north-central Iberia), but lower in Galicia (northwest Iberia) and Catalonia (northeast Iberia). When compared to other European and Middle East populations, haplogroups H1, H3 and H5a show frequency peaks in the Franco-Cantabrian region, declining from West towards the East and South Europe. In addition, we have characterized, by way of complete genome sequencing, a new autochthonous clade of haplogroup H in the Basque country, named H2a5. Its coalescence age, 15.6+/-8 thousand years ago (kya), dates to the period immediately after the Last Glacial Maximum (LGM).<h4>Conclusions/significance</h4>In contrast to other H lineages that experienced re-expansion outside the Franco-Cantabrian refuge after the LGM (e.g. H1 and H3), H2a5 most likely remained confined to this area till present days.Vanesa Alvarez-IglesiasAna Mosquera-MiguelMaria CerezoBeatriz QuintánsMaria Teresa ZarrabeitiaIvon CuscóMaria Victoria LareuOscar GarcíaLuis Pérez-JuradoAngel CarracedoAntonio SalasPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 4, Iss 4, p e5112 (2009)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Vanesa Alvarez-Iglesias Ana Mosquera-Miguel Maria Cerezo Beatriz Quintáns Maria Teresa Zarrabeitia Ivon Cuscó Maria Victoria Lareu Oscar García Luis Pérez-Jurado Angel Carracedo Antonio Salas New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.
description	<h4>Background</h4>R0 embraces the most common mitochondrial DNA (mtDNA) lineage in West Eurasia, namely, haplogroup H (approximately 40%). R0 sub-lineages are badly defined in the control region and therefore, the analysis of diagnostic coding region polymorphisms is needed in order to gain resolution in population and medical studies.<h4>Methodology/principal findings</h4>We sequenced the first hypervariable segment (HVS-I) of 518 individuals from different North Iberian regions. The mtDNAs belonging to R0 (approximately 57%) were further genotyped for a set of 71 coding region SNPs characterizing major and minor branches of R0. We found that the North Iberian Peninsula shows moderate levels of population stratification; for instance, haplogroup V reaches the highest frequency in Cantabria (north-central Iberia), but lower in Galicia (northwest Iberia) and Catalonia (northeast Iberia). When compared to other European and Middle East populations, haplogroups H1, H3 and H5a show frequency peaks in the Franco-Cantabrian region, declining from West towards the East and South Europe. In addition, we have characterized, by way of complete genome sequencing, a new autochthonous clade of haplogroup H in the Basque country, named H2a5. Its coalescence age, 15.6+/-8 thousand years ago (kya), dates to the period immediately after the Last Glacial Maximum (LGM).<h4>Conclusions/significance</h4>In contrast to other H lineages that experienced re-expansion outside the Franco-Cantabrian refuge after the LGM (e.g. H1 and H3), H2a5 most likely remained confined to this area till present days.
format	article
author	Vanesa Alvarez-Iglesias Ana Mosquera-Miguel Maria Cerezo Beatriz Quintáns Maria Teresa Zarrabeitia Ivon Cuscó Maria Victoria Lareu Oscar García Luis Pérez-Jurado Angel Carracedo Antonio Salas
author_facet	Vanesa Alvarez-Iglesias Ana Mosquera-Miguel Maria Cerezo Beatriz Quintáns Maria Teresa Zarrabeitia Ivon Cuscó Maria Victoria Lareu Oscar García Luis Pérez-Jurado Angel Carracedo Antonio Salas
author_sort	Vanesa Alvarez-Iglesias
title	New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.
title_short	New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.
title_full	New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.
title_fullStr	New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.
title_full_unstemmed	New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.
title_sort	new population and phylogenetic features of the internal variation within mitochondrial dna macro-haplogroup r0.
publisher	Public Library of Science (PLoS)
publishDate	2009
url	https://doaj.org/article/718166ff36704c919ff1b423ad6b10de
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New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.

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