Contrasting histories of G6PD molecular evolution and malarial resistance in humans and chimpanzees

Brian C. Verrelli, Sarah A. Tishkoff, Anne Stone, Jeffrey W. Touchman

Research output: Contribution to journalArticle

22 Scopus citations

Abstract

Although mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene result in several blood-related diseases in humans, they also confer resistance to malarial infection. This association between G6PD and malaria was supported by population genetic analyses of the G6PD locus, which indicated that these mutations may have recently risen in frequency in certain geographic regions as a result of positive selection. Here we characterize nucleotide sequence variation in a 5.2-kb region of the G6PD locus in a population sample of 56 chimpanzees, as well as among 7 other nonhuman primates, to compare with that in humans in determining whether other primates that are impacted by malaria also exhibit patterns of G6PD polymorphism or divergence consistent with positive selection. We find that chimpanzees have several amino acid variants but that the overall pattern at G6PD in chimpanzees, as well as in Old and New World primates in general, can be explained by recent purifying selection as well as strong functional constraint dating back to at least 30-40 MYA. These comparative analyses suggest that the recent signature of positive selection at G6PD in humans is unique.

Original languageEnglish (US)
Pages (from-to)1592-1601
Number of pages10
JournalMolecular biology and evolution
Volume23
Issue number8
DOIs
StatePublished - Aug 2006

Keywords

  • Chimpanzee
  • Glucose-6-phosphate dehydrogenase
  • Malarial resistance

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Genetics

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