A signal, from human mtDNA, of postglacial recolonization in Europe
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...
Published in: | The American Journal of Human Genetics |
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2001
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Online Access: | https://hdl.handle.net/11584/377303 https://doi.org/10.1086/323485 |
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ftunicagliariris:oai:iris.unica.it:11584/377303 2024-04-21T08:10:51+00:00 A signal, from human mtDNA, of postglacial recolonization in Europe Torroni A Bandelt HJ Macaulay V Richards M Cruciani F Rengo C Martinez-Cabrera V Villems R Kivisild T Metspalu E Parik JR Tolk HV Tambets K Forster P Karger B Francalacci P Rudan P Janicijevic B Rickards O Savontaus ML Huoponen K Laitinen V Koivumaki S Sykes B Hickey E Novelletto A Moral P Sellitto D Coppa A Al-Zaheri N Santachiara-Benerecetti AS Semino O Scozzari R Torroni, A Bandelt, Hj Macaulay, V Richards, M Cruciani, F Rengo, C Martinez-Cabrera, V Villems, R Kivisild, T Metspalu, E Parik, Jr Tolk, Hv Tambets, K Forster, P Karger, B Francalacci, P Rudan, P Janicijevic, B Rickards, O Savontaus, Ml Huoponen, K Laitinen, V Koivumaki, S Sykes, B Hickey, E Novelletto, A Moral, P Sellitto, D Coppa, A Al-Zaheri, N Santachiara-Benerecetti, A Semino, O Scozzari, R 2001 https://hdl.handle.net/11584/377303 https://doi.org/10.1086/323485 eng eng info:eu-repo/semantics/altIdentifier/pmid/11517423 info:eu-repo/semantics/altIdentifier/wos/WOS:000171008200016 volume:69 issue:4 firstpage:844 lastpage:852 numberofpages:9 journal:AMERICAN JOURNAL OF HUMAN GENETICS https://hdl.handle.net/11584/377303 doi:10.1086/323485 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0034822098 Africa Northern Asia Western DNA Mitochondrial Europe Gene Frequency Genetic Marker Genetic Testing Haplotype Human Mutation Polymorphism Restriction Fragment Length Sample Size Time Factor Cold Climate Emigration and Immigration Ice Phylogeny Genetic Genetics (clinical) info:eu-repo/semantics/article 2001 ftunicagliariris https://doi.org/10.1086/323485 2024-03-25T16:14:07Z 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. Article in Journal/Newspaper saami Università degli Studi di Cagliari: UNICA IRIS The American Journal of Human Genetics 69 4 844 852 |
institution |
Open Polar |
collection |
Università degli Studi di Cagliari: UNICA IRIS |
op_collection_id |
ftunicagliariris |
language |
English |
topic |
Africa Northern Asia Western DNA Mitochondrial Europe Gene Frequency Genetic Marker Genetic Testing Haplotype Human Mutation Polymorphism Restriction Fragment Length Sample Size Time Factor Cold Climate Emigration and Immigration Ice Phylogeny Genetic Genetics (clinical) |
spellingShingle |
Africa Northern Asia Western DNA Mitochondrial Europe Gene Frequency Genetic Marker Genetic Testing Haplotype Human Mutation Polymorphism Restriction Fragment Length Sample Size Time Factor Cold Climate Emigration and Immigration Ice Phylogeny Genetic Genetics (clinical) Torroni A Bandelt HJ Macaulay V Richards M Cruciani F Rengo C Martinez-Cabrera V Villems R Kivisild T Metspalu E Parik JR Tolk HV Tambets K Forster P Karger B Francalacci P Rudan P Janicijevic B Rickards O Savontaus ML Huoponen K Laitinen V Koivumaki S Sykes B Hickey E Novelletto A Moral P Sellitto D Coppa A Al-Zaheri N Santachiara-Benerecetti AS Semino O Scozzari R A signal, from human mtDNA, of postglacial recolonization in Europe |
topic_facet |
Africa Northern Asia Western DNA Mitochondrial Europe Gene Frequency Genetic Marker Genetic Testing Haplotype Human Mutation Polymorphism Restriction Fragment Length Sample Size Time Factor Cold Climate Emigration and Immigration Ice Phylogeny Genetic Genetics (clinical) |
description |
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. |
author2 |
Torroni, A Bandelt, Hj Macaulay, V Richards, M Cruciani, F Rengo, C Martinez-Cabrera, V Villems, R Kivisild, T Metspalu, E Parik, Jr Tolk, Hv Tambets, K Forster, P Karger, B Francalacci, P Rudan, P Janicijevic, B Rickards, O Savontaus, Ml Huoponen, K Laitinen, V Koivumaki, S Sykes, B Hickey, E Novelletto, A Moral, P Sellitto, D Coppa, A Al-Zaheri, N Santachiara-Benerecetti, A Semino, O Scozzari, R |
format |
Article in Journal/Newspaper |
author |
Torroni A Bandelt HJ Macaulay V Richards M Cruciani F Rengo C Martinez-Cabrera V Villems R Kivisild T Metspalu E Parik JR Tolk HV Tambets K Forster P Karger B Francalacci P Rudan P Janicijevic B Rickards O Savontaus ML Huoponen K Laitinen V Koivumaki S Sykes B Hickey E Novelletto A Moral P Sellitto D Coppa A Al-Zaheri N Santachiara-Benerecetti AS Semino O Scozzari R |
author_facet |
Torroni A Bandelt HJ Macaulay V Richards M Cruciani F Rengo C Martinez-Cabrera V Villems R Kivisild T Metspalu E Parik JR Tolk HV Tambets K Forster P Karger B Francalacci P Rudan P Janicijevic B Rickards O Savontaus ML Huoponen K Laitinen V Koivumaki S Sykes B Hickey E Novelletto A Moral P Sellitto D Coppa A Al-Zaheri N Santachiara-Benerecetti AS Semino O Scozzari R |
author_sort |
Torroni A |
title |
A signal, from human mtDNA, of postglacial recolonization in Europe |
title_short |
A signal, from human mtDNA, of postglacial recolonization in Europe |
title_full |
A signal, from human mtDNA, of postglacial recolonization in Europe |
title_fullStr |
A signal, from human mtDNA, of postglacial recolonization in Europe |
title_full_unstemmed |
A signal, from human mtDNA, of postglacial recolonization in Europe |
title_sort |
signal, from human mtdna, of postglacial recolonization in europe |
publishDate |
2001 |
url |
https://hdl.handle.net/11584/377303 https://doi.org/10.1086/323485 |
genre |
saami |
genre_facet |
saami |
op_relation |
info:eu-repo/semantics/altIdentifier/pmid/11517423 info:eu-repo/semantics/altIdentifier/wos/WOS:000171008200016 volume:69 issue:4 firstpage:844 lastpage:852 numberofpages:9 journal:AMERICAN JOURNAL OF HUMAN GENETICS https://hdl.handle.net/11584/377303 doi:10.1086/323485 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0034822098 |
op_doi |
https://doi.org/10.1086/323485 |
container_title |
The American Journal of Human Genetics |
container_volume |
69 |
container_issue |
4 |
container_start_page |
844 |
op_container_end_page |
852 |
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1796952448873529344 |