Genetic Variation among Major Human Geographic Groups Supports a Peculiar Evolutionary Trend in PAX9

• Published in: PLoS ONE
• Main Authors: Paixao-Cortes, Vanessa R., Meyer, Diogo, Pereira, Tiago da Veiga UNIFESP, Mazieres, Stephane, Elion, Jacques, Krishnamoorthy, Rajagopal, Zago, Marco A., Silva, Wilson A., Salzano, Francisco M., Bortolini, Maria Catira
• Other Authors: Univ Fed Rio Grande do Sul, Universidade de São Paulo (USP), Universidade Federal de São Paulo (UNIFESP), CNRS, Fac Med, Univ Paris Diderot
• Format: Article in Journal/Newspaper
• Language: English
• Published: Public Library Science 2011
• Subjects: eskimo*
• Online Access: http://repositorio.unifesp.br/handle/11600/33362; https://doi.org/10.1371/journal.pone.0015656

A total of 172 persons from nine South Amerindian, three African and one Eskimo populations were studied in relation to the Paired box gene 9 (PAX9) exon 3 (138 base pairs) as well as its 5' and 3' flanking intronic segments (232 bp and 220 bp, respectively) and integrated with the information available for the same genetic region from individuals of different geographical origins. Nine mutations were scored in exon 3 and six in its flanking regions; four of them are new South American tribe-specific singletons. Exon3 nucleotide diversity is several orders of magnitude higher than its intronic regions. Additionally, a set of variants in the PAX9 and 101 other genes related with dentition can define at least some dental morphological differences between Sub-Saharan Africans and non-Africans, probably associated with adaptations after the modern human exodus from Africa. Exon 3 of PAX9 could be a good molecular example of how evolvability works. Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Institutos do Milenio and Programa de Apoio a Nucleos de Excelencia Programs Fundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Univ Fed Rio Grande do Sul, Inst Biociencias, Dept Genet, BR-90049 Porto Alegre, RS, Brazil Univ São Paulo, Inst Biociencias, Dept Genet & Biol Evolut, São Paulo, Brazil Universidade Federal de São Paulo, Dept Bioquim, São Paulo, Brazil CNRS, Lab Anthropobiol, FRE2960, Toulouse, France Fac Med, CS80011, Marseille, France Univ Paris Diderot, Hop Robert Debre, Insern, UMR 763, Paris, France Univ São Paulo, Fac Med, Dept Clin Med, São Paulo, Brazil Univ São Paulo, Fac Med Ribeirao Preto, Dept Genet, São Paulo, Brazil Universidade Federal de São Paulo, Dept Bioquim, São Paulo, Brazil Web of Science