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

Vanessa Paixão-Côrtes (1) , Diogo Meyer (2) , Tiago Pereira (3) , Stéphane Mazières (4, 5) , Jacques Elion (6) , Rajagopal Krishnamoorthy (6) , Marco Zago (7) , Wilson Silva Jr. (8) , Francisco Mauro Salzano (1) , Maria C. Bortolini (1)

1 Departamento de Genética
2 Departamento de Genética e Biologia Evolutiva
3 Departamento de Bioquımica
4 AMIS - Anthropologie Moléculaire et Imagerie de Synthèse
5 ADES - Anthropologie bio-culturelle, Droit, Ethique et Santé
6 Insern, UMR 763, Hôpital Robert Debré
7 Departamento de Clınica Médica
8 Departamento de Genética

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.

Domaines: Anthropologie biologique

Vanessa Paixão-Côrtes, Diogo Meyer, Tiago Pereira, Stéphane Mazières, Jacques Elion, et al.. Genetic Variation among Major Human Geographic Groups Supports a Peculiar Evolutionary Trend in PAX9.. PLoS ONE, 2011, pp.6(1):e15656. ⟨hal-00565225⟩