ArticleAmerican journal of human genetics2004
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 174 papers.
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Who cites it
174 citing papers in PubMed, 458 citations in OpenAlex.
- Trial
- West Eurasian mtDNA lineages in India: an insight into the spread of the Dravidian language and the origins of the caste system.Human genetics · 2015Trial
- Exploring the Y Chromosomal Ancestry of Modern Panamanians.PloS one · 2015Trial
- Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomes.PloS one · 2012Trial
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- Co-mutation Based Genetic Networks to Infer Temporal Mutation Dynamics in Ancient Human Mitochondrial Genomes.Journal of molecular evolution · 2026Article
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- Challenging Patterns of Fine-Scale Genetic Structure in Galicia and East-to-West Genetic Divergence Across the Iberian Peninsula-When Technical Batches Rewrite History.FASEB bioAdvances · 2026Article
- The genetic landscape of northeastern Iberian communities from the early to late Iron Age.iScience · 2026Article
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- Population-specific genomic risk markers for oral and maxillofacial malignancies in a high tobacco-exposure cohort from Eastern Uttar Pradesh, India.Bioinformation · 2026Article
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- Reduced diversity in human mitogenomes from Eivissa (Balearic Islands).Frontiers in genetics · 2026Article
- The genetic history of Portugal over the past 5,000 years.Genome biology · 2025Article
- The origin of modern North Africans as depicted by a massive survey of mitogenomes.Scientific reports · 2025Article
- Genetic transitions in the Neolithic and Bronze Age at Mas d'en Boixos (Catalonia, Spain).iScience · 2025Article
- Article
- High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect.Scientific reports · 2024Article
- Deciphering the maternal ancestral lineage of Greek Cypriots, Armenian Cypriots and Maronite Cypriots.PloS one · 2024Article
- Article
114 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 10 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Complete sequencing of 62 mitochondrial DNAs (mtDNAs) belonging (or very closely related) to haplogroup H revealed that this mtDNA haplogroup--by far the most common in Europe--is subdivided into numerous subhaplogroups, with at least 15 of them (H1-H15) identifiable by characteristic mutations. All the haplogroup H mtDNAs found in 5,743 subjects from 43 populations were then screened for diagnostic markers of subhaplogroups H1 and H3. This survey showed that both subhaplogroups display frequency peaks, centered in Iberia and surrounding areas, with distributions declining toward the northeast and southeast--a pattern extremely similar to that previously reported for mtDNA haplogroup V. Furthermore, the coalescence ages of H1 and H3 (~11,000 years) are close to that previously reported for V. These findings have major implications for the origin of Europeans, since they attest that the Franco-Cantabrian refuge area was indeed the source of late-glacial expansions of hunter-gatherers that repopulated much of Central and Northern Europe from ~15,000 years ago. This has also some implications for disease studies. For instance, the high occurrence of H1 and H3 in Iberia led us to re-evaluate the haplogroup distribution in 50 Spanish families affected by nonsyndromic sensorineural deafness due to the A1555G mutation. The survey revealed that the previously reported excess of H among these families is caused entirely by H3 and is due to a major, probably nonrecent, founder event.
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