ArticlePloS one2009
New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 44 papers.
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44 citing papers in PubMed.
- Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomes.PloS one · 2012Trial
- Methods for Large-Scale Intraspecific Analyses of Single Nucleotide Polymorphisms in the Mitochondrial Genomes of Aspergillus fumigatus.Methods in molecular biology (Clifton, N.J.) · 2026Article
- A pilot study of mitochondrial genomic ancestry in admixed Brazilian patients with type 1 diabetes.Diabetology & metabolic syndrome · 2024Article
- Mitogenome Variations in a Global Population ofJournal of fungi (Basel, Switzerland) · 2023Article
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- Sex-biased patterns shaped the genetic history of Roma.Scientific reports · 2020Article
- Heteroplasmic Variants of Mitochondrial DNA in Atherosclerotic Lesions of Human Aortic Intima.Biomolecules · 2019Article
- The distribution of mitochondrial DNA haplogroup H in southern Iberia indicates ancient human genetic exchanges along the western edge of the Mediterranean.BMC genetics · 2017Article
- Ancient mitochondrial lineages support the prehistoric maternal root of Basques in Northern Iberian Peninsula.European journal of human genetics : EJHG · 2017Article
- Phylogenetic and population-based approaches to mitogenome variation do not support association with male infertility.Journal of human genetics · 2017Article
- Mitochondrial DNA Reveals the Trace of the Ancient Settlers of a Violently Devastated Late Bronze and Iron Ages Village.PloS one · 2016Article
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- Simultaneous Whole Mitochondrial Genome Sequencing with Short Overlapping Amplicons Suitable for Degraded DNA Using the Ion Torrent Personal Genome Machine.Human mutation · 2015Article
- Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers.PLoS genetics · 2014Article
- Craniometric analysis of European Upper Palaeolithic and Mesolithic samples supports discontinuity at the Last Glacial Maximum.Nature communications · 2014Article
- The pathogenicity scoring system for mitochondrial tRNA mutations revisited.Molecular genetics & genomic medicine · 2014Article
- Article
- Introducing the Algerian mitochondrial DNA and Y-chromosome profiles into the North African landscape.PloS one · 2013Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundR0 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
findingsWe 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.
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