The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool

Alessandro Achilli, Chiara Rengo, Chiara Magri, Vincenza Battaglia, Anna Olivieri, Rosaria Scozzari, Fulvio Cruciani, Massimo Zeviani, Egill Briem, Valerio Carelli, Pedro Moral, Jean Michel Dugoujon, Urmas Roostalu, Eva Liis Loogväli, Toomas Kivisild, Hans Jürgen Bandelt, Martin Richards, Richard Villems, A. Silvana Santachiara-Benerecetti, Ornella Semino & 1 others Antonio Torroni

Research output: Contribution to journalReview article

336 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)910-918
Number of pages9
JournalAmerican Journal of Human Genetics
Volume75
Issue number5
Early online date20 Sep 2004
DOIs
Publication statusPublished - Nov 2004
Externally publishedYes

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Gene Pool
Mitochondrial DNA
Dissection
Mutation
Population
Surveys and Questionnaires

Cite this

Achilli, Alessandro ; Rengo, Chiara ; Magri, Chiara ; Battaglia, Vincenza ; Olivieri, Anna ; Scozzari, Rosaria ; Cruciani, Fulvio ; Zeviani, Massimo ; Briem, Egill ; Carelli, Valerio ; Moral, Pedro ; Dugoujon, Jean Michel ; Roostalu, Urmas ; Loogväli, Eva Liis ; Kivisild, Toomas ; Bandelt, Hans Jürgen ; Richards, Martin ; Villems, Richard ; Silvana Santachiara-Benerecetti, A. ; Semino, Ornella ; Torroni, Antonio. / The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool. In: American Journal of Human Genetics. 2004 ; Vol. 75, No. 5. pp. 910-918.
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title = "The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool",
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.",
author = "Alessandro Achilli and Chiara Rengo and Chiara Magri and Vincenza Battaglia and Anna Olivieri and Rosaria Scozzari and Fulvio Cruciani and Massimo Zeviani and Egill Briem and Valerio Carelli and Pedro Moral and Dugoujon, {Jean Michel} and Urmas Roostalu and Loogv{\"a}li, {Eva Liis} and Toomas Kivisild and Bandelt, {Hans J{\"u}rgen} and Martin Richards and Richard Villems and {Silvana Santachiara-Benerecetti}, A. and Ornella Semino and Antonio Torroni",
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Achilli, A, Rengo, C, Magri, C, Battaglia, V, Olivieri, A, Scozzari, R, Cruciani, F, Zeviani, M, Briem, E, Carelli, V, Moral, P, Dugoujon, JM, Roostalu, U, Loogväli, EL, Kivisild, T, Bandelt, HJ, Richards, M, Villems, R, Silvana Santachiara-Benerecetti, A, Semino, O & Torroni, A 2004, 'The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool', American Journal of Human Genetics, vol. 75, no. 5, pp. 910-918. https://doi.org/10.1086/425590

The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool. / Achilli, Alessandro; Rengo, Chiara; Magri, Chiara; Battaglia, Vincenza; Olivieri, Anna; Scozzari, Rosaria; Cruciani, Fulvio; Zeviani, Massimo; Briem, Egill; Carelli, Valerio; Moral, Pedro; Dugoujon, Jean Michel; Roostalu, Urmas; Loogväli, Eva Liis; Kivisild, Toomas; Bandelt, Hans Jürgen; Richards, Martin; Villems, Richard; Silvana Santachiara-Benerecetti, A.; Semino, Ornella; Torroni, Antonio.

In: American Journal of Human Genetics, Vol. 75, No. 5, 11.2004, p. 910-918.

Research output: Contribution to journalReview article

TY - JOUR

T1 - The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool

AU - Achilli, Alessandro

AU - Rengo, Chiara

AU - Magri, Chiara

AU - Battaglia, Vincenza

AU - Olivieri, Anna

AU - Scozzari, Rosaria

AU - Cruciani, Fulvio

AU - Zeviani, Massimo

AU - Briem, Egill

AU - Carelli, Valerio

AU - Moral, Pedro

AU - Dugoujon, Jean Michel

AU - Roostalu, Urmas

AU - Loogväli, Eva Liis

AU - Kivisild, Toomas

AU - Bandelt, Hans Jürgen

AU - Richards, Martin

AU - Villems, Richard

AU - Silvana Santachiara-Benerecetti, A.

AU - Semino, Ornella

AU - Torroni, Antonio

PY - 2004/11

Y1 - 2004/11

N2 - 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.

AB - 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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U2 - 10.1086/425590

DO - 10.1086/425590

M3 - Review article

VL - 75

SP - 910

EP - 918

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 5

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