Differing evolutionary histories of the ACT3*R577X polymorphism among the major human geographic groups

Detalhes bibliográficos
Autor(a) principal: Amorim, Carlos Eduardo Guerra
Data de Publicação: 2015
Outros Autores: Acunã Alonzo, Víctor, Salzano, Francisco Mauro, Bortolini, Maria Cátira, Hunemeier, Tábita
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.