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

主要人类地理群体之间的遗传变异支持了 PAX9 的特殊进化趋势

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作者:Vanessa R Paixão-Côrtes, Diogo Meyer, Tiago V Pereira, Stéphane Mazières, Jacques Elion, Rajagopal Krishnamoorthy, Marco A Zago, Wilson A Silva Jr, Francisco M Salzano, Maria Cátira Bortolini

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.

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