Genetic variation among major human geographic groups supports a peculiar evolutionary trend in PAX9.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 21298044.
- Also identified by DOI 10.1371/journal.pone.0015656 and PMC identifier 3029280.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Dentition
- Evolution, Molecular
- Genetic Variation
- PAX9 Transcription Factor