title: Differing evolutionary histories of the ACTN3*R577X polymorphism among the major human geographic groups.
abstract: 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.
authors.affiliation: Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul 91501-970, Brazil; CAPES Foundation, Ministry of Education of Brazil, Brasília, 70040-020, Brazil.
authors.forename: Carlos Eduardo G
authors.initials: CE
authors.lastname: Amorim
authors.affiliation: Unit of Molecular Biology and Genomic Medicine, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Universidad Nacional Autónoma de México, Mexico City 14000, Mexico.
authors.forename: Victor
authors.initials: V
authors.lastname: Acuña-Alonzo
authors.affiliation: Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul 91501-970, Brazil.
authors.forename: Francisco M
authors.initials: FM
authors.lastname: Salzano
authors.affiliation: Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul 91501-970, Brazil.
authors.forename: Maria Cátira
authors.initials: MC
authors.lastname: Bortolini
authors.affiliation: Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul 91501-970, Brazil.
authors.forename: Tábita
authors.initials: T
authors.lastname: Hünemeier
mesh_terms: D000185:Actinin / Q000235:genetics*; D000483:Alleles; D019143:Evolution, Molecular; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008957:Models, Genetic; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics*
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin