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Title: Genetic Variation among Major Human Geographic Groups Supports a Peculiar Evolutionary Trend in PAX9
Authors: Paixao-Cortes, Vanessa R.
Meyer, Diogo
Pereira, Tiago da Veiga [UNIFESP]
Mazieres, Stephane
Elion, Jacques
Krishnamoorthy, Rajagopal
Zago, Marco A.
Silva, Wilson A.
Salzano, Francisco M.
Bortolini, Maria Catira
Univ Fed Rio Grande do Sul
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Fac Med
Univ Paris Diderot
Issue Date: 27-Jan-2011
Publisher: Public Library Science
Citation: Plos One. San Francisco: Public Library Science, v. 6, n. 1, 7 p., 2011.
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.
ISSN: 1932-6203
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