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

• Main Authors: Paixão-Côrtes, Vanessa, Meyer, Diogo, Pereira, Tiago, Mazières, Stéphane, Elion, Jacques, Krishnamoorthy, Rajagopal, Zago, Marco, Silva Jr., Wilson, Salzano, Francisco Mauro, Bortolini, Maria, C.
• Other Authors: Departamento de Genética, Universidade Federal do Rio Grande do Sul Porto Alegre (UFRGS)-Instituto de Biociencias, Departamento de Genética e Biologia Evolutiva, Universidade de São Paulo = University of São Paulo (USP), Departamento de Bioquımica, Universidade Federal de Sao Paulo, Anthropologie Moléculaire et Imagerie de Synthèse (AMIS), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Insern, UMR 763, Hôpital Robert Debré, Université Paris Diderot - Paris 7 (UPD7), Departamento de Clınica Médica
• Format: Article in Journal/Newspaper
• Language: English
• Published: HAL CCSD 2011
• Subjects: [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology; eskimo*
• Online Access: https://hal.science/hal-00565225; https://hal.science/hal-00565225/document; https://hal.science/hal-00565225/file/Paixao-Cortes_PO2011.pdf

International audience 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 59and 39flanking 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.