ArticleAmerican journal of human genetics2002
Evidence for balancing selection from nucleotide sequence analyses of human G6PD.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 160 citations in OpenAlex.
- Temporal challenges in detecting balancing selection from population genomic data.G3 (Bethesda, Md.) · 2024Article
- Unique footprints of balancing selection in bovine genome.3 Biotech · 2024Article
- Glucose-6-phosphate dehydrogenase deficiency among neonates with jaundice in Africa; systematic review and meta-analysis.Heliyon · 2023Review
- Article
- Identifying adaptive alleles in the human genome: from selection mapping to functional validation.Human genetics · 2021Review
- Complex signatures of natural selection at GYPA.Human genetics · 2018Article
- Association of Polymorphisms in Connective Tissue Growth Factor and Epidermal Growth Factor Receptor Genes With Human Longevity.The journals of gerontology. Series A, Biological sciences and medical sciences · 2017Article
- Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology.Human molecular genetics · 2017Article
- Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia.eLife · 2017Article
- Article
- Glucose-6-phosphate dehydrogenase deficiency A- variant in febrile patients in Haiti.The American journal of tropical medicine and hygiene · 2014Article
- Genetic variation and adaptation in Africa: implications for human evolution and disease.Cold Spring Harbor perspectives in biology · 2014Review
- Continental-scale footprint of balancing and positive selection in a small rodent (Microtus arvalis).PloS one · 2014Article
- Population Genomics of Human Adaptation.Annual review of ecology, evolution, and systematics · 2013Article
- Patterns of nucleotide and haplotype diversity at ICAM-1 across global human populations with varying levels of malaria exposure.Human genetics · 2013Article
- Inferring selection intensity and allele age from multilocus haplotype structure.G3 (Bethesda, Md.) · 2013Article
- Identifying Darwinian selection acting on different human APOL1 variants among diverse African populations.American journal of human genetics · 2013Article
- Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence.PLoS genetics · 2013Article
- Article
- Pathogen-driven selection in the human genome.International journal of evolutionary biology · 2013Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) mutations that result in reduced enzyme activity have been implicated in malarial resistance and constitute one of the best examples of selection in the human genome. In the present study, we characterize the nucleotide diversity across a 5.2-kb region of G6PD in a sample of 160 Africans and 56 non-Africans, to determine how selection has shaped patterns of DNA variation at this gene. Our global sample of enzymatically normal B alleles and A, A-, and Med alleles with reduced enzyme activities reveals many previously uncharacterized silent-site polymorphisms. In comparison with the absence of amino acid divergence between human and chimpanzee G6PD sequences, we find that the number of G6PD amino acid polymorphisms in human populations is significantly high. Unlike many other G6PD-activity alleles with reduced activity, we find that the age of the A variant, which is common in Africa, may not be consistent with the recent emergence of severe malaria and therefore may have originally had a historically different adaptive function. Overall, our observations strongly support previous genotype-phenotype association studies that proposed that balancing selection maintains G6PD deficiencies within human populations. The present study demonstrates that nucleotide sequence analyses can reveal signatures of both historical and recent selection in the genome and may elucidate the impact that infectious disease has had during human evolution.
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