A Signal, from Human mtDNA, of Postglacial Recolonization in Europe

Antonio Torroni, Hans Jürgen Bandelt, Vincent Macaulay, Martin Richards, Fulvio Cruciani, Chiara Rengo, Vicente Martinez-Cabrera, Richard Villems, Toomas Kivisild, Ene Metspalu, Jüri Parik, Helle Viivi Tolk, Kristiina Tambets, Peter Forster, Bernd Karger, Paolo Francalacci, Pavao Rudan, Branka Janicijevic, Olga Rickards, Marja Liisa Savontaus & 13 others Kirsi Huoponen, Virpi Laitinen, Satu Koivumäki, Bryan Sykes, Eileen Hickey, Andrea Novelletto, Pedro Moral, Daniele Sellitto, Alfredo Coppa, Nadia Al-Zaheri, A. Silvana Santachiara-Benerecetti, Ornella Semino, Rosaria Scozzari

Research output: Contribution to journalArticle

212 Citations (Scopus)

Abstract

Mitochondrial HVS-I sequences from 10,365 subjects belonging to 56 populations/geographical regions of western Eurasia and northern Africa were first surveyed for the presence of the T→C transition at nucleotide position 16298, a mutation which has previously been shown to characterize haplogroup V mtDNAs. All mtDNAs with this mutation were then screened for a number of diagnostic RFLP sites, revealing two major subsets of mtDNAs. One is haplogroup V proper, and the other has been termed "pre*V," since it predates V phylogenetically. The rather uncommon pre*V tends to be scattered throughout Europe (and northwestern Africa), whereas V attains two peaks of frequency: one situated in southwestern Europe and one in the Saami of northern Scandinavia. Geographical distributions and ages support the scenario that pre*V originated in Europe before the Last Glacial Maximum (LGM), whereas the more recently derived haplogroup V arose in a southwestern European refugium soon after the LGM. The arrival of V in eastern/central Europe, however, occurred much later, possibly with (post-)Neolithic contacts. The distribution of haplogroup V mtDNAs in modern European populations would thus, at least in part, reflect the pattern of postglacial human recolonization from that refugium, affecting even the Saami. Overall, the present study shows that the dissection of mtDNA variation into small and well-defined evolutionary units is an essential step in the identification of spatial frequency patterns. Mass screening of a few markers identified using complete mtDNA sequences promises to be an efficient strategy for inferring features of human prehistory.

LanguageEnglish
Pages844-852
Number of pages9
JournalAmerican Journal of Human Genetics
Volume69
Issue number4
Early online date21 Aug 2001
DOIs
Publication statusPublished - Oct 2001

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Mitochondrial DNA
Scandinavian and Nordic Countries
Northern Africa
Eastern Europe
Mutation
Mass Screening
Western Africa
Age Distribution
Prednisolone
Restriction Fragment Length Polymorphisms
Population
Dissection
Nucleotides
Refugium

Cite this

Torroni, A., Bandelt, H. J., Macaulay, V., Richards, M., Cruciani, F., Rengo, C., ... Scozzari, R. (2001). A Signal, from Human mtDNA, of Postglacial Recolonization in Europe. American Journal of Human Genetics, 69(4), 844-852. https://doi.org/10.1086/323485
Torroni, Antonio ; Bandelt, Hans Jürgen ; Macaulay, Vincent ; Richards, Martin ; Cruciani, Fulvio ; Rengo, Chiara ; Martinez-Cabrera, Vicente ; Villems, Richard ; Kivisild, Toomas ; Metspalu, Ene ; Parik, Jüri ; Tolk, Helle Viivi ; Tambets, Kristiina ; Forster, Peter ; Karger, Bernd ; Francalacci, Paolo ; Rudan, Pavao ; Janicijevic, Branka ; Rickards, Olga ; Savontaus, Marja Liisa ; Huoponen, Kirsi ; Laitinen, Virpi ; Koivumäki, Satu ; Sykes, Bryan ; Hickey, Eileen ; Novelletto, Andrea ; Moral, Pedro ; Sellitto, Daniele ; Coppa, Alfredo ; Al-Zaheri, Nadia ; Santachiara-Benerecetti, A. Silvana ; Semino, Ornella ; Scozzari, Rosaria. / A Signal, from Human mtDNA, of Postglacial Recolonization in Europe. In: American Journal of Human Genetics. 2001 ; Vol. 69, No. 4. pp. 844-852.
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abstract = "Mitochondrial HVS-I sequences from 10,365 subjects belonging to 56 populations/geographical regions of western Eurasia and northern Africa were first surveyed for the presence of the T→C transition at nucleotide position 16298, a mutation which has previously been shown to characterize haplogroup V mtDNAs. All mtDNAs with this mutation were then screened for a number of diagnostic RFLP sites, revealing two major subsets of mtDNAs. One is haplogroup V proper, and the other has been termed {"}pre*V,{"} since it predates V phylogenetically. The rather uncommon pre*V tends to be scattered throughout Europe (and northwestern Africa), whereas V attains two peaks of frequency: one situated in southwestern Europe and one in the Saami of northern Scandinavia. Geographical distributions and ages support the scenario that pre*V originated in Europe before the Last Glacial Maximum (LGM), whereas the more recently derived haplogroup V arose in a southwestern European refugium soon after the LGM. The arrival of V in eastern/central Europe, however, occurred much later, possibly with (post-)Neolithic contacts. The distribution of haplogroup V mtDNAs in modern European populations would thus, at least in part, reflect the pattern of postglacial human recolonization from that refugium, affecting even the Saami. Overall, the present study shows that the dissection of mtDNA variation into small and well-defined evolutionary units is an essential step in the identification of spatial frequency patterns. Mass screening of a few markers identified using complete mtDNA sequences promises to be an efficient strategy for inferring features of human prehistory.",
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Torroni, A, Bandelt, HJ, Macaulay, V, Richards, M, Cruciani, F, Rengo, C, Martinez-Cabrera, V, Villems, R, Kivisild, T, Metspalu, E, Parik, J, Tolk, HV, Tambets, K, Forster, P, Karger, B, Francalacci, P, Rudan, P, Janicijevic, B, Rickards, O, Savontaus, ML, Huoponen, K, Laitinen, V, Koivumäki, S, Sykes, B, Hickey, E, Novelletto, A, Moral, P, Sellitto, D, Coppa, A, Al-Zaheri, N, Santachiara-Benerecetti, AS, Semino, O & Scozzari, R 2001, 'A Signal, from Human mtDNA, of Postglacial Recolonization in Europe', American Journal of Human Genetics, vol. 69, no. 4, pp. 844-852. https://doi.org/10.1086/323485

A Signal, from Human mtDNA, of Postglacial Recolonization in Europe. / Torroni, Antonio; Bandelt, Hans Jürgen; Macaulay, Vincent; Richards, Martin; Cruciani, Fulvio; Rengo, Chiara; Martinez-Cabrera, Vicente; Villems, Richard; Kivisild, Toomas; Metspalu, Ene; Parik, Jüri; Tolk, Helle Viivi; Tambets, Kristiina; Forster, Peter; Karger, Bernd; Francalacci, Paolo; Rudan, Pavao; Janicijevic, Branka; Rickards, Olga; Savontaus, Marja Liisa; Huoponen, Kirsi; Laitinen, Virpi; Koivumäki, Satu; Sykes, Bryan; Hickey, Eileen; Novelletto, Andrea; Moral, Pedro; Sellitto, Daniele; Coppa, Alfredo; Al-Zaheri, Nadia; Santachiara-Benerecetti, A. Silvana; Semino, Ornella; Scozzari, Rosaria.

In: American Journal of Human Genetics, Vol. 69, No. 4, 10.2001, p. 844-852.

Research output: Contribution to journalArticle

TY - JOUR

T1 - A Signal, from Human mtDNA, of Postglacial Recolonization in Europe

AU - Torroni, Antonio

AU - Bandelt, Hans Jürgen

AU - Macaulay, Vincent

AU - Richards, Martin

AU - Cruciani, Fulvio

AU - Rengo, Chiara

AU - Martinez-Cabrera, Vicente

AU - Villems, Richard

AU - Kivisild, Toomas

AU - Metspalu, Ene

AU - Parik, Jüri

AU - Tolk, Helle Viivi

AU - Tambets, Kristiina

AU - Forster, Peter

AU - Karger, Bernd

AU - Francalacci, Paolo

AU - Rudan, Pavao

AU - Janicijevic, Branka

AU - Rickards, Olga

AU - Savontaus, Marja Liisa

AU - Huoponen, Kirsi

AU - Laitinen, Virpi

AU - Koivumäki, Satu

AU - Sykes, Bryan

AU - Hickey, Eileen

AU - Novelletto, Andrea

AU - Moral, Pedro

AU - Sellitto, Daniele

AU - Coppa, Alfredo

AU - Al-Zaheri, Nadia

AU - Santachiara-Benerecetti, A. Silvana

AU - Semino, Ornella

AU - Scozzari, Rosaria

PY - 2001/10

Y1 - 2001/10

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