title: Genetic variation among major human geographic groups supports a peculiar evolutionary trend in PAX9.
abstract: 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.
authors.affiliation: Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Vanessa R
authors.initials: VR
authors.lastname: Paixão-Côrtes
authors.forename: Diogo
authors.initials: D
authors.lastname: Meyer
authors.forename: Tiago V
authors.initials: TV
authors.lastname: Pereira
authors.forename: Stéphane
authors.initials: S
authors.lastname: Mazières
authors.forename: Jacques
authors.initials: J
authors.lastname: Elion
authors.forename: Rajagopal
authors.initials: R
authors.lastname: Krishnamoorthy
authors.forename: Marco A
authors.initials: MA
authors.lastname: Zago
authors.forename: Wilson A
authors.initials: WA
authors.lastname: Silva
authors.forename: Francisco M
authors.initials: FM
authors.lastname: Salzano
authors.forename: Maria Cátira
authors.initials: MC
authors.lastname: Bortolini
mesh_terms: D000349:Africa; D003817:Dentition; D019143:Evolution, Molecular; D005091:Exons; D014644:Genetic Variation; D005843:Geography; D006801:Humans; D004930:Inuit; D009154:Mutation; D051764:PAX9 Transcription Factor / Q000235:genetics*; D013020:South America
chemical_list: D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human