Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation
There is an ongoing discussion in the literature on whether human mitochondrial DNA (mtDNA) evolves neutrally. There have been previous claims for natural selection on human mtDNA based on an excess of non-synonymous mutations and higher evolutionary persistence of specific mitochondrial mutations i...
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ftpubmed:oai:pubmedcentral.nih.gov:2817182 2023-05-15T15:07:14+02:00 Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation Balloux, François Handley, Lori-Jayne Lawson Jombart, Thibaut Liu, Hua Manica, Andrea 2009-10-07 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2817182 http://www.ncbi.nlm.nih.gov/pubmed/19586946 https://doi.org/10.1098/rspb.2009.0752 en eng The Royal Society http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2817182 http://www.ncbi.nlm.nih.gov/pubmed/19586946 http://dx.doi.org/10.1098/rspb.2009.0752 © 2009 The Royal Society http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. CC-BY Research articles Text 2009 ftpubmed https://doi.org/10.1098/rspb.2009.0752 2013-09-02T21:13:09Z There is an ongoing discussion in the literature on whether human mitochondrial DNA (mtDNA) evolves neutrally. There have been previous claims for natural selection on human mtDNA based on an excess of non-synonymous mutations and higher evolutionary persistence of specific mitochondrial mutations in Arctic populations. However, these findings were not supported by the reanalysis of larger datasets. Using a geographical framework, we perform the first direct test of the relative extent to which climate and past demography have shaped the current spatial distribution of mtDNA sequences worldwide. We show that populations living in colder environments have lower mitochondrial diversity and that the genetic differentiation between pairs of populations correlates with difference in temperature. These associations were unique to mtDNA; we could not find a similar pattern in any other genetic marker. We were able to identify two correlated non-synonymous point mutations in the ND3 and ATP6 genes characterized by a clear association with temperature, which appear to be plausible targets of natural selection producing the association with climate. The same mutations have been previously shown to be associated with variation in mitochondrial pH and calcium dynamics. Our results indicate that natural selection mediated by climate has contributed to shape the current distribution of mtDNA sequences in humans. Text Arctic PubMed Central (PMC) Arctic Proceedings of the Royal Society B: Biological Sciences 276 1672 3447 3455 |
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Research articles Balloux, François Handley, Lori-Jayne Lawson Jombart, Thibaut Liu, Hua Manica, Andrea Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation |
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Research articles |
description |
There is an ongoing discussion in the literature on whether human mitochondrial DNA (mtDNA) evolves neutrally. There have been previous claims for natural selection on human mtDNA based on an excess of non-synonymous mutations and higher evolutionary persistence of specific mitochondrial mutations in Arctic populations. However, these findings were not supported by the reanalysis of larger datasets. Using a geographical framework, we perform the first direct test of the relative extent to which climate and past demography have shaped the current spatial distribution of mtDNA sequences worldwide. We show that populations living in colder environments have lower mitochondrial diversity and that the genetic differentiation between pairs of populations correlates with difference in temperature. These associations were unique to mtDNA; we could not find a similar pattern in any other genetic marker. We were able to identify two correlated non-synonymous point mutations in the ND3 and ATP6 genes characterized by a clear association with temperature, which appear to be plausible targets of natural selection producing the association with climate. The same mutations have been previously shown to be associated with variation in mitochondrial pH and calcium dynamics. Our results indicate that natural selection mediated by climate has contributed to shape the current distribution of mtDNA sequences in humans. |
format |
Text |
author |
Balloux, François Handley, Lori-Jayne Lawson Jombart, Thibaut Liu, Hua Manica, Andrea |
author_facet |
Balloux, François Handley, Lori-Jayne Lawson Jombart, Thibaut Liu, Hua Manica, Andrea |
author_sort |
Balloux, François |
title |
Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation |
title_short |
Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation |
title_full |
Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation |
title_fullStr |
Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation |
title_full_unstemmed |
Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation |
title_sort |
climate shaped the worldwide distribution of human mitochondrial dna sequence variation |
publisher |
The Royal Society |
publishDate |
2009 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2817182 http://www.ncbi.nlm.nih.gov/pubmed/19586946 https://doi.org/10.1098/rspb.2009.0752 |
geographic |
Arctic |
geographic_facet |
Arctic |
genre |
Arctic |
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Arctic |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2817182 http://www.ncbi.nlm.nih.gov/pubmed/19586946 http://dx.doi.org/10.1098/rspb.2009.0752 |
op_rights |
© 2009 The Royal Society http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
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CC-BY |
op_doi |
https://doi.org/10.1098/rspb.2009.0752 |
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Proceedings of the Royal Society B: Biological Sciences |
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276 |
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1672 |
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3447 |
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