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Evidence for balancing selection from nucleotide sequence analyses of human G6PD.
Brian C Verrelli1, John H McDonald, George Argyropoulos
1Department of Biology, University of Maryland, College Park, MD 20742, USA. verrelli@wam.umd.edu
American Journal of Human Genetics
|October 16, 2002
Summary
Glucose-6-phosphate dehydrogenase (G6PD) mutations offer malarial resistance, showcasing human genome selection. DNA variation analysis reveals balancing selection maintains G6PD deficiencies, impacting human evolution.
Area of Science:
- Human evolutionary genetics
- Population genetics
- Molecular evolution
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is linked to malaria resistance.
- G6PD mutations exemplify natural selection in the human genome.
Purpose of the Study:
- To analyze nucleotide diversity in the G6PD gene region.
- To understand how selection has shaped DNA variation at the G6PD locus.
- To investigate the evolutionary history of G6PD variants.
Main Methods:
- Sequencing a 5.2-kb region of G6PD in African and non-African populations.
- Characterizing nucleotide diversity and identifying polymorphisms.
- Comparing human G6PD sequences with chimpanzee sequences.
Main Results:
- Discovery of numerous uncharacterized silent-site polymorphisms in G6PD.
- Significantly high number of G6PD amino acid polymorphisms in human populations compared to human-chimpanzee divergence.
- The common African A variant's age may predate severe malaria, suggesting a different adaptive role.
Conclusions:
- Nucleotide sequence analysis reveals signatures of historical and recent selection.
- Findings support balancing selection maintaining G6PD deficiencies in human populations.
- Infectious diseases have significantly impacted human evolution, as evidenced by G6PD variation.