The western and eastern roots of the Saami: the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes
The Saami are regarded as extreme genetic outliers among European populations. In this study, a high-resolution phylogenetic analysis of Saami genetic heritage was undertaken in a comprehensive context, through use of maternally inherited mitochondrial DNA (mtDNA) and paternally inherited Y-chromoso...
Published in: | The American Journal of Human Genetics |
---|---|
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
Other Authors: | , , , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Cell Press
2004
|
Subjects: | |
Online Access: | http://hdl.handle.net/2108/31694 https://doi.org/10.1086/383203 |
id |
ftunivromatorver:oai:art.torvergata.it:2108/31694 |
---|---|
record_format |
openpolar |
spelling |
ftunivromatorver:oai:art.torvergata.it:2108/31694 2024-02-27T08:45:08+00:00 The western and eastern roots of the Saami: the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes Tambets, K Rootsi, S Kivisild, T Help, H Serk, P Loogvali, EL Tolk, HV Reidla, M Metspalu, E Pliss, L Balanovsky, O Pshenichnov, A Balanovska, E Gubina, M Zhadanov, S Osipova, L Damba, L Voevoda, M Kutuev, I Bermisheva, M Khusnutdinova, E Gusar, V Grechanina, E Parik, J Pennarun, E RICKARDS, OLGA DE STEFANO, GIANFRANCO Tambets, K Rootsi, S Kivisild, T Help, H Serk, P Loogvali, E Tolk, H Reidla, M Metspalu, E Pliss, L Balanovsky, O Pshenichnov, A Balanovska, E Gubina, M Zhadanov, S Osipova, L Damba, L Voevoda, M Kutuev, I Bermisheva, M Khusnutdinova, E Gusar, V Grechanina, E Parik, J Pennarun, E Rickards, O DE STEFANO, G 2004 http://hdl.handle.net/2108/31694 https://doi.org/10.1086/383203 eng eng Cell Press country:US info:eu-repo/semantics/altIdentifier/pmid/15024688 info:eu-repo/semantics/altIdentifier/wos/WOS:000220280800006 volume:74 issue:4 firstpage:661 lastpage:682 numberofpages:22 journal:AMERICAN JOURNAL OF HUMAN GENETICS http://hdl.handle.net/2108/31694 doi:10.1086/383203 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-12144289934 mitochondrial DNA Aborigine article Europe extrachromosomal inheritance haplotype human major clinical study phylogeny phylogeography population genetic priority journal Russian Federation Scandinavia Y chromosome Chromosomes Y DNA Mitochondrial Ethnic Group Gene Frequency Gene Pool Geography Siberia Time Factor Variation (Genetics) Settore BIO/08 - ANTROPOLOGIA Settore BIO/18 - GENETICA info:eu-repo/semantics/article 2004 ftunivromatorver https://doi.org/10.1086/383203 2024-01-31T00:02:59Z The Saami are regarded as extreme genetic outliers among European populations. In this study, a high-resolution phylogenetic analysis of Saami genetic heritage was undertaken in a comprehensive context, through use of maternally inherited mitochondrial DNA (mtDNA) and paternally inherited Y-chromosomal variation. DNA variants present in the Saami were compared with those found in Europe and Siberia, through use of both new and previously published data from 445 Saami and 17,096 western Eurasian and Siberian mtDNA samples, as well as 127 Saami and 2,840 western Eurasian and Siberian Y-chromosome samples. It was shown that the "Saami motif" variant of mtDNA haplogroup U5b is present in a large area outside Scandinavia. A detailed phylogeographic analysis of one of the predominant Saami mtDNA haplogroups, U5b1b, which also includes the lineages of the "Saami motif," was undertaken in 31 populations. The results indicate that the origin of U5b1b, as for the other predominant Saami haplogroup, V, is most likely in western, rather than eastern, Europe. Furthermore, an additional haplogroup (H1) spread among the Saami was virtually absent in 781 Samoyed and Ob-Ugric Siberians but was present in western and central European populations. The Y-chromosomal variety in the Saami is also consistent with their European ancestry. It suggests that the large genetic separation of the Saami from other Europeans is best explained by assuming that the Saami are descendants of a narrow, distinctive subset of Europeans. In particular, no evidence of a significant directional gene flow from extant aboriginal Siberian populations into the haploid gene pools of the Saami was found. Article in Journal/Newspaper saami samoyed* Siberia Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca The ''Y'' ENVELOPE(-112.453,-112.453,57.591,57.591) The American Journal of Human Genetics 74 4 661 682 |
institution |
Open Polar |
collection |
Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca |
op_collection_id |
ftunivromatorver |
language |
English |
topic |
mitochondrial DNA Aborigine article Europe extrachromosomal inheritance haplotype human major clinical study phylogeny phylogeography population genetic priority journal Russian Federation Scandinavia Y chromosome Chromosomes Y DNA Mitochondrial Ethnic Group Gene Frequency Gene Pool Geography Siberia Time Factor Variation (Genetics) Settore BIO/08 - ANTROPOLOGIA Settore BIO/18 - GENETICA |
spellingShingle |
mitochondrial DNA Aborigine article Europe extrachromosomal inheritance haplotype human major clinical study phylogeny phylogeography population genetic priority journal Russian Federation Scandinavia Y chromosome Chromosomes Y DNA Mitochondrial Ethnic Group Gene Frequency Gene Pool Geography Siberia Time Factor Variation (Genetics) Settore BIO/08 - ANTROPOLOGIA Settore BIO/18 - GENETICA Tambets, K Rootsi, S Kivisild, T Help, H Serk, P Loogvali, EL Tolk, HV Reidla, M Metspalu, E Pliss, L Balanovsky, O Pshenichnov, A Balanovska, E Gubina, M Zhadanov, S Osipova, L Damba, L Voevoda, M Kutuev, I Bermisheva, M Khusnutdinova, E Gusar, V Grechanina, E Parik, J Pennarun, E RICKARDS, OLGA DE STEFANO, GIANFRANCO The western and eastern roots of the Saami: the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes |
topic_facet |
mitochondrial DNA Aborigine article Europe extrachromosomal inheritance haplotype human major clinical study phylogeny phylogeography population genetic priority journal Russian Federation Scandinavia Y chromosome Chromosomes Y DNA Mitochondrial Ethnic Group Gene Frequency Gene Pool Geography Siberia Time Factor Variation (Genetics) Settore BIO/08 - ANTROPOLOGIA Settore BIO/18 - GENETICA |
description |
The Saami are regarded as extreme genetic outliers among European populations. In this study, a high-resolution phylogenetic analysis of Saami genetic heritage was undertaken in a comprehensive context, through use of maternally inherited mitochondrial DNA (mtDNA) and paternally inherited Y-chromosomal variation. DNA variants present in the Saami were compared with those found in Europe and Siberia, through use of both new and previously published data from 445 Saami and 17,096 western Eurasian and Siberian mtDNA samples, as well as 127 Saami and 2,840 western Eurasian and Siberian Y-chromosome samples. It was shown that the "Saami motif" variant of mtDNA haplogroup U5b is present in a large area outside Scandinavia. A detailed phylogeographic analysis of one of the predominant Saami mtDNA haplogroups, U5b1b, which also includes the lineages of the "Saami motif," was undertaken in 31 populations. The results indicate that the origin of U5b1b, as for the other predominant Saami haplogroup, V, is most likely in western, rather than eastern, Europe. Furthermore, an additional haplogroup (H1) spread among the Saami was virtually absent in 781 Samoyed and Ob-Ugric Siberians but was present in western and central European populations. The Y-chromosomal variety in the Saami is also consistent with their European ancestry. It suggests that the large genetic separation of the Saami from other Europeans is best explained by assuming that the Saami are descendants of a narrow, distinctive subset of Europeans. In particular, no evidence of a significant directional gene flow from extant aboriginal Siberian populations into the haploid gene pools of the Saami was found. |
author2 |
Tambets, K Rootsi, S Kivisild, T Help, H Serk, P Loogvali, E Tolk, H Reidla, M Metspalu, E Pliss, L Balanovsky, O Pshenichnov, A Balanovska, E Gubina, M Zhadanov, S Osipova, L Damba, L Voevoda, M Kutuev, I Bermisheva, M Khusnutdinova, E Gusar, V Grechanina, E Parik, J Pennarun, E Rickards, O DE STEFANO, G |
format |
Article in Journal/Newspaper |
author |
Tambets, K Rootsi, S Kivisild, T Help, H Serk, P Loogvali, EL Tolk, HV Reidla, M Metspalu, E Pliss, L Balanovsky, O Pshenichnov, A Balanovska, E Gubina, M Zhadanov, S Osipova, L Damba, L Voevoda, M Kutuev, I Bermisheva, M Khusnutdinova, E Gusar, V Grechanina, E Parik, J Pennarun, E RICKARDS, OLGA DE STEFANO, GIANFRANCO |
author_facet |
Tambets, K Rootsi, S Kivisild, T Help, H Serk, P Loogvali, EL Tolk, HV Reidla, M Metspalu, E Pliss, L Balanovsky, O Pshenichnov, A Balanovska, E Gubina, M Zhadanov, S Osipova, L Damba, L Voevoda, M Kutuev, I Bermisheva, M Khusnutdinova, E Gusar, V Grechanina, E Parik, J Pennarun, E RICKARDS, OLGA DE STEFANO, GIANFRANCO |
author_sort |
Tambets, K |
title |
The western and eastern roots of the Saami: the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes |
title_short |
The western and eastern roots of the Saami: the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes |
title_full |
The western and eastern roots of the Saami: the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes |
title_fullStr |
The western and eastern roots of the Saami: the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes |
title_full_unstemmed |
The western and eastern roots of the Saami: the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes |
title_sort |
western and eastern roots of the saami: the story of genetic "outliers" told by mitochondrial dna and y chromosomes |
publisher |
Cell Press |
publishDate |
2004 |
url |
http://hdl.handle.net/2108/31694 https://doi.org/10.1086/383203 |
long_lat |
ENVELOPE(-112.453,-112.453,57.591,57.591) |
geographic |
The ''Y'' |
geographic_facet |
The ''Y'' |
genre |
saami samoyed* Siberia |
genre_facet |
saami samoyed* Siberia |
op_relation |
info:eu-repo/semantics/altIdentifier/pmid/15024688 info:eu-repo/semantics/altIdentifier/wos/WOS:000220280800006 volume:74 issue:4 firstpage:661 lastpage:682 numberofpages:22 journal:AMERICAN JOURNAL OF HUMAN GENETICS http://hdl.handle.net/2108/31694 doi:10.1086/383203 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-12144289934 |
op_doi |
https://doi.org/10.1086/383203 |
container_title |
The American Journal of Human Genetics |
container_volume |
74 |
container_issue |
4 |
container_start_page |
661 |
op_container_end_page |
682 |
_version_ |
1792054224534634496 |