The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool
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 t...
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| Published in | American journal of human genetics Vol. 75; no. 5; pp. 910 - 918 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Chicago, IL
Elsevier Inc
01.11.2004
University of Chicago Press The American Society of Human Genetics |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 |
| DOI | 10.1086/425590 |
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| 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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| AbstractList | 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. 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. 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.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. 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 ( similar to 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 similar to 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. |
| Author | Moral, Pedro Cruciani, Fulvio Bandelt, Hans-Jürgen Battaglia, Vincenza Achilli, Alessandro Rengo, Chiara Semino, Ornella Villems, Richard Roostalu, Urmas Scozzari, Rosaria Santachiara-Benerecetti, A.Silvana Carelli, Valerio Richards, Martin Loogväli, Eva-Liis Magri, Chiara Torroni, Antonio Kivisild, Toomas Olivieri, Anna Zeviani, Massimo Dugoujon, Jean-Michel Briem, Egill |
| AuthorAffiliation | 1 Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy; 2 Dipartimento di Genetica e Biologia Molecolare, Università “La Sapienza,” and 3 Istituto di Biologia e Patologia Molecolare, Consiglio Nazionale delle Ricerche, Rome; 4 Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan; 5 Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna; 6 Departament de Biologia Animal, Universitat de Barcelona, Barcelona; 7 Centre d’Anthropologie, UMR 8555, Toulouse, France; 8 Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia; 9 Fachbereich Mathematik, Universität Hamburg, Hamburg; and 10 Schools of Biology and Computing, University of Leeds, Leeds |
| AuthorAffiliation_xml | – name: 1 Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy; 2 Dipartimento di Genetica e Biologia Molecolare, Università “La Sapienza,” and 3 Istituto di Biologia e Patologia Molecolare, Consiglio Nazionale delle Ricerche, Rome; 4 Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan; 5 Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna; 6 Departament de Biologia Animal, Universitat de Barcelona, Barcelona; 7 Centre d’Anthropologie, UMR 8555, Toulouse, France; 8 Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia; 9 Fachbereich Mathematik, Universität Hamburg, Hamburg; and 10 Schools of Biology and Computing, University of Leeds, Leeds |
| Author_xml | – sequence: 1 givenname: Alessandro surname: Achilli fullname: Achilli, Alessandro organization: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy – sequence: 2 givenname: Chiara surname: Rengo fullname: Rengo, Chiara organization: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy – sequence: 3 givenname: Chiara surname: Magri fullname: Magri, Chiara organization: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy – sequence: 4 givenname: Vincenza surname: Battaglia fullname: Battaglia, Vincenza organization: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy – sequence: 5 givenname: Anna surname: Olivieri fullname: Olivieri, Anna organization: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy – sequence: 6 givenname: Rosaria surname: Scozzari fullname: Scozzari, Rosaria organization: Dipartimento di Genetica e Biologia Molecolare, Università “La Sapienza,” Rome – sequence: 7 givenname: Fulvio surname: Cruciani fullname: Cruciani, Fulvio organization: Dipartimento di Genetica e Biologia Molecolare, Università “La Sapienza,” Rome – sequence: 8 givenname: Massimo surname: Zeviani fullname: Zeviani, Massimo organization: Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan – sequence: 9 givenname: Egill surname: Briem fullname: Briem, Egill organization: Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan – sequence: 10 givenname: Valerio surname: Carelli fullname: Carelli, Valerio organization: Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna – sequence: 11 givenname: Pedro surname: Moral fullname: Moral, Pedro organization: Departament de Biologia Animal, Universitat de Barcelona, Barcelona – sequence: 12 givenname: Jean-Michel surname: Dugoujon fullname: Dugoujon, Jean-Michel organization: Centre d’Anthropologie, UMR 8555, Toulouse, France – sequence: 13 givenname: Urmas surname: Roostalu fullname: Roostalu, Urmas organization: Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia – sequence: 14 givenname: Eva-Liis surname: Loogväli fullname: Loogväli, Eva-Liis organization: Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia – sequence: 15 givenname: Toomas surname: Kivisild fullname: Kivisild, Toomas organization: Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia – sequence: 16 givenname: Hans-Jürgen surname: Bandelt fullname: Bandelt, Hans-Jürgen organization: Fachbereich Mathematik, Universität Hamburg, Hamburg – sequence: 17 givenname: Martin surname: Richards fullname: Richards, Martin organization: Schools of Biology and Computing, University of Leeds, Leeds – sequence: 18 givenname: Richard surname: Villems fullname: Villems, Richard organization: Department of Evolutionary Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia – sequence: 19 givenname: A.Silvana surname: Santachiara-Benerecetti fullname: Santachiara-Benerecetti, A.Silvana organization: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy – sequence: 20 givenname: Ornella surname: Semino fullname: Semino, Ornella organization: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy – sequence: 21 givenname: Antonio surname: Torroni fullname: Torroni, Antonio email: torroni@ipvgen.unipv.it organization: Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16215382$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/15382008$$D View this record in MEDLINE/PubMed |
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Genet. 2002 May;70(5):1152-71 |
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| Snippet | Complete sequencing of 62 mitochondrial DNAs (mtDNAs) belonging (or very closely related) to haplogroup H revealed that this mtDNA haplogroup—by far the most... Complete sequencing of 62 mitochondrial DNAs (mtDNAs) belonging (or very closely related) to haplogroup H revealed that this mtDNA haplogroup--by far the most... Complete sequencing of 62 mitochondrial DNAs (mtDNAs) belonging (or very closely related) to haplogroup H revealed that this mtDNA haplogroup - by far the most... |
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| SubjectTerms | Base Sequence Biological and medical sciences Climate DNA, Mitochondrial - classification DNA, Mitochondrial - genetics European Continental Ancestry Group - genetics Evolution, Molecular Founder Effect France Fundamental and applied biological sciences. Psychology Gene Pool General aspects. Genetic counseling Genetic Markers - genetics Genetics of eukaryotes. Biological and molecular evolution Haplotypes - genetics Human Humans Medical genetics Medical sciences Molecular Sequence Data Phylogeny Population genetics, reproduction patterns Sequence Analysis, DNA Spain |
| Title | The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool |
| URI | https://dx.doi.org/10.1086/425590 https://www.ncbi.nlm.nih.gov/pubmed/15382008 https://www.proquest.com/docview/17699437 https://www.proquest.com/docview/66921992 https://pubmed.ncbi.nlm.nih.gov/PMC1182122 |
| Volume | 75 |
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