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    PLoS One. 2011 Jan 27;6(1):e15656.

    Genetic variation among major human geographic groups supports a peculiar evolutionary trend in PAX9.

    Paixão-Côrtes VR, Meyer D, Pereira TV, Mazières S, Elion J, Krishnamoorthy R, Zago MA, Silva WA Jr, Salzano FM, Bortolini MC.

    Source

    Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.

    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.

    PMID:
    21298044
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC3029280
    Free PMC Article

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