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, 4 (4), e5112

New Population and Phylogenetic Features of the Internal Variation Within Mitochondrial DNA Macro-Haplogroup R0


New Population and Phylogenetic Features of the Internal Variation Within Mitochondrial DNA Macro-Haplogroup R0

Vanesa Alvarez-Iglesias et al. PLoS One.

Erratum in

  • PLoS One. 2010;5(4). doi: 10.1371/annotation/25b9ed74-e963-496e-84bb-526bd6867221


Background: 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.

Methodology/principal findings: 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).

Conclusions/significance: 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.

Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.


Figure 1
Figure 1. Phylogeny of haplogroup R0.
An expanded view of the haplogroup H phylogeny is shown in Figure 2. Underlined positions signal parallel mutations, while @ indicates a back mutation. In bold are the control region variants, whereas dots indicate the SNPs selected and genotyped in the present study.
Figure 2
Figure 2. Phylogeny of haplogroup H.
See legend of Figure 1 for more details.
Figure 3
Figure 3. Geographic maps of haplogroup frequencies for haplogroups H*, H1, H2a, H3, H4, H5a, H6a, H7, H8, H11.
Dots in the map of H* indicate the location of the populations used. Codes for populations are: Galicia, Cantabria, Catalonia (present study); Volga-Ural, Finland, Estonia, Eastern Slavs, Slovakia, France, Balkans, Central Asia ; Turkey, Armenia, Georgia, Northwest Caucasus, Daghestan, Ossetia, Karatchians-Balkarians, Syria, Lebanon, Jordan, Arabian Peninsula ; Austria ; Tuscani .
Figure 4
Figure 4. Phylogeny of haplogroup H2a5.

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