Differing evolutionary histories of the ACT3*R577X polymorphism among the major human geographic groups
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/224660 |
Resumo: | It has been proposed that the functional ACTN3*R577X polymorphism might have evolved due to selection in Eurasian human populations. To test this possibility we surveyed all available population-based data for this polymorphism and performed a comprehensive evolutionary analysis of its genetic diversity, in order to assess the action of adaptive and random mechanisms on its variation across human geographical distribution. The derived 577X allele increases in frequency with distance from Africa, reaching the highest frequencies on the American continent. Positive selection, detected by an extended haplotype homozygosisty test, was consistent only with the Eurasian data, but simulations with neutral models could not fully explain the results found in the American continent. It is possible that particularities of Native American population structure could be responsible for the observed allele frequencies, which would have resulted from a complex interaction between selective and random factors. |
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Amorim, Carlos Eduardo GuerraAcunã Alonzo, VíctorSalzano, Francisco MauroBortolini, Maria CátiraHunemeier, Tábita2021-07-28T04:40:33Z20151932-6203http://hdl.handle.net/10183/224660001016448It has been proposed that the functional ACTN3*R577X polymorphism might have evolved due to selection in Eurasian human populations. To test this possibility we surveyed all available population-based data for this polymorphism and performed a comprehensive evolutionary analysis of its genetic diversity, in order to assess the action of adaptive and random mechanisms on its variation across human geographical distribution. The derived 577X allele increases in frequency with distance from Africa, reaching the highest frequencies on the American continent. Positive selection, detected by an extended haplotype homozygosisty test, was consistent only with the Eurasian data, but simulations with neutral models could not fully explain the results found in the American continent. It is possible that particularities of Native American population structure could be responsible for the observed allele frequencies, which would have resulted from a complex interaction between selective and random factors.application/pdfengPlos One [recurso eletrônico]. San Francisco. Vol. 10, no. 2 (Feb. 2015), e0115449, 15 p.Variação genéticaGenética de populaçõesPolimorfismo genéticoDiffering evolutionary histories of the ACT3*R577X polymorphism among the major human geographic groupsEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001016448.pdf.txt001016448.pdf.txtExtracted Texttext/plain37218http://www.lume.ufrgs.br/bitstream/10183/224660/2/001016448.pdf.txt485bb4528c7ae7a536c95adcbf7e361fMD52ORIGINAL001016448.pdfTexto completo (inglês)application/pdf517967http://www.lume.ufrgs.br/bitstream/10183/224660/1/001016448.pdff6aaf09e57314499a46c3a8567bf82a3MD5110183/2246602023-09-27 03:36:30.998552oai:www.lume.ufrgs.br:10183/224660Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-09-27T06:36:30Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Differing evolutionary histories of the ACT3*R577X polymorphism among the major human geographic groups |
title |
Differing evolutionary histories of the ACT3*R577X polymorphism among the major human geographic groups |
spellingShingle |
Differing evolutionary histories of the ACT3*R577X polymorphism among the major human geographic groups Amorim, Carlos Eduardo Guerra Variação genética Genética de populações Polimorfismo genético |
title_short |
Differing evolutionary histories of the ACT3*R577X polymorphism among the major human geographic groups |
title_full |
Differing evolutionary histories of the ACT3*R577X polymorphism among the major human geographic groups |
title_fullStr |
Differing evolutionary histories of the ACT3*R577X polymorphism among the major human geographic groups |
title_full_unstemmed |
Differing evolutionary histories of the ACT3*R577X polymorphism among the major human geographic groups |
title_sort |
Differing evolutionary histories of the ACT3*R577X polymorphism among the major human geographic groups |
author |
Amorim, Carlos Eduardo Guerra |
author_facet |
Amorim, Carlos Eduardo Guerra Acunã Alonzo, Víctor Salzano, Francisco Mauro Bortolini, Maria Cátira Hunemeier, Tábita |
author_role |
author |
author2 |
Acunã Alonzo, Víctor Salzano, Francisco Mauro Bortolini, Maria Cátira Hunemeier, Tábita |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Amorim, Carlos Eduardo Guerra Acunã Alonzo, Víctor Salzano, Francisco Mauro Bortolini, Maria Cátira Hunemeier, Tábita |
dc.subject.por.fl_str_mv |
Variação genética Genética de populações Polimorfismo genético |
topic |
Variação genética Genética de populações Polimorfismo genético |
description |
It has been proposed that the functional ACTN3*R577X polymorphism might have evolved due to selection in Eurasian human populations. To test this possibility we surveyed all available population-based data for this polymorphism and performed a comprehensive evolutionary analysis of its genetic diversity, in order to assess the action of adaptive and random mechanisms on its variation across human geographical distribution. The derived 577X allele increases in frequency with distance from Africa, reaching the highest frequencies on the American continent. Positive selection, detected by an extended haplotype homozygosisty test, was consistent only with the Eurasian data, but simulations with neutral models could not fully explain the results found in the American continent. It is possible that particularities of Native American population structure could be responsible for the observed allele frequencies, which would have resulted from a complex interaction between selective and random factors. |
publishDate |
2015 |
dc.date.issued.fl_str_mv |
2015 |
dc.date.accessioned.fl_str_mv |
2021-07-28T04:40:33Z |
dc.type.driver.fl_str_mv |
Estrangeiro info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10183/224660 |
dc.identifier.issn.pt_BR.fl_str_mv |
1932-6203 |
dc.identifier.nrb.pt_BR.fl_str_mv |
001016448 |
identifier_str_mv |
1932-6203 001016448 |
url |
http://hdl.handle.net/10183/224660 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.pt_BR.fl_str_mv |
Plos One [recurso eletrônico]. San Francisco. Vol. 10, no. 2 (Feb. 2015), e0115449, 15 p. |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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