ArticleAmerican journal of human genetics2011
Effects of natural selection and gene conversion on the evolution of human glycophorins coding for MNS blood polymorphisms in malaria-endemic African populations.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 55 citations in OpenAlex.
- Characterization of blood group variants in an Omani population by comparison of whole genome sequencing and serology.Transfusion · 2025Article
- Adaptation in human immune cells residing in tissues at the frontline of infections.Nature communications · 2024Article
- Genetic variation of glycophorins and infectious disease.Immunogenetics · 2023Review
- Bioinformatics Identification of Candidate Biomarkers in Endomyocardial Biopsy and Peripheral Blood for Cardiac Allograft Rejection.Annals of transplantation · 2022Article
- Three Signatures of Adaptive Polymorphism Exemplified by Malaria-Associated Genes.Molecular biology and evolution · 2021Article
- Identifying adaptive alleles in the human genome: from selection mapping to functional validation.Human genetics · 2021Review
- Addressing Africa's pandemic puzzle: Perspectives on COVID-19 transmission and mortality in sub-Saharan Africa.International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases · 2021Review
- Two Prevalent ∼100-kbTransfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2020Article
- Genome-wide association studies of severe P. falciparum malaria susceptibility: progress, pitfalls and prospects.BMC medical genomics · 2019Review
- Gene tree species tree reconciliation with gene conversion.Journal of mathematical biology · 2019Article
- SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives.Parasite epidemiology and control · 2019Review
- Few Plasmodium falciparum merozoite ligand and erythrocyte receptor pairs show evidence of balancing selection.Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2019Article
- Population genetic evidence for positive and purifying selection acting at the human IFN-γ locus in Africa.Genes and immunity · 2019Article
- The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels.American journal of human genetics · 2018Article
- Patterns of shared signatures of recent positive selection across human populations.Nature ecology & evolution · 2018Article
- Complex signatures of natural selection at GYPA.Human genetics · 2018Article
- Parasite-Related Genetic and Epigenetic Aspects and Host Factors InfluencingFrontiers in cellular and infection microbiology · 2018Review
- High rate of adaptation of mammalian proteins that interact with Plasmodium and related parasites.PLoS genetics · 2017Article
- Resistance to malaria through structural variation of red blood cell invasion receptors.Science (New York, N.Y.) · 2017Article
- Inferences of African evolutionary history from genomic data.Current opinion in genetics & development · 2016Review
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Authors and funding
13 authors at 6 institutions in 6 countries.
Funding
Abstract
Malaria has been a very strong selection pressure in recent human evolution, particularly in Africa. Of the one million deaths per year due to malaria, more than 90% are in sub-Saharan Africa, a region with high levels of genetic variation and population substructure. However, there have been few studies of nucleotide variation at genetic loci that are relevant to malaria susceptibility across geographically and genetically diverse ethnic groups in Africa. Invasion of erythrocytes by Plasmodium falciparum parasites is central to the pathology of malaria. Glycophorin A (GYPA) and B (GYPB), which determine MN and Ss blood types, are two major receptors that are expressed on erythrocyte surfaces and interact with parasite ligands. We analyzed nucleotide diversity of the glycophorin gene family in 15 African populations with different levels of malaria exposure. High levels of nucleotide diversity and gene conversion were found at these genes. We observed divergent patterns of genetic variation between these duplicated genes and between different extracellular domains of GYPA. Specifically, we identified fixed adaptive changes at exons 3-4 of GYPA. By contrast, we observed an allele frequency spectrum skewed toward a significant excess of intermediate-frequency alleles at GYPA exon 2 in many populations; the degree of spectrum distortion is correlated with malaria exposure, possibly because of the joint effects of gene conversion and balancing selection. We also identified a haplotype causing three amino acid changes in the extracellular domain of glycophorin B. This haplotype might have evolved adaptively in five populations with high exposure to malaria.
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