ArticleAmerican journal of human genetics2018
The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 27 citations in OpenAlex.
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- Local genetic adaptation to habitat in wild chimpanzees.Science (New York, N.Y.) · 2025Article
- Local genetic adaptation to habitat in wild chimpanzees.bioRxiv : the preprint server for biology · 2024Article
- Genetic variation of glycophorins and infectious disease.Immunogenetics · 2023Review
- The 22q11.2 Low Copy Repeats.Genes · 2022Review
- Genetics of cerebral malaria: pathogenesis, biomarkers and emerging therapeutic interventions.Cell & bioscience · 2022Review
- Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for atrial fibrillation and stroke: Analysis via the support vector machine neural network.Journal of cellular and molecular medicine · 2022Article
- Revisiting the malaria hypothesis: accounting for polygenicity and pleiotropy.Trends in parasitology · 2022Review
- Protection against COVID-19 in African population: Immunology, genetics, and malaria clues for therapeutic targets.Virus research · 2021Review
- Identifying adaptive alleles in the human genome: from selection mapping to functional validation.Human genetics · 2021Review
- Article
- Human genetics and malaria resistance.Human genetics · 2020Review
- Birth, expansion, and death of VCY-containing palindromes on the human Y chromosome.Genome biology · 2019Article
- Evolutionary and functional analysis of RBMY1 gene copy number variation on the human Y chromosome.Human molecular genetics · 2019Article
- Erythrocyte glycophorins as receptors for Plasmodium merozoites.Parasites & vectors · 2019Review
- Chromatin organization modulates the origin of heritable structural variations in human genome.Nucleic acids research · 2019Article
- Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots.Genome biology and evolution · 2019Article
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Authors and funding
10 authors at 6 institutions in 3 countries.
Funding
Abstract
Glycophorin A and glycophorin B are red blood cell surface proteins and are both receptors for the parasite Plasmodium falciparum, which is the principal cause of malaria in sub-Saharan Africa. DUP4 is a complex structural genomic variant that carries extra copies of a glycophorin A-glycophorin B fusion gene and has a dramatic effect on malaria risk by reducing the risk of severe malaria by up to 40%. Using fiber-FISH and Illumina sequencing, we validate the structural arrangement of the glycophorin locus in the DUP4 variant and reveal somatic variation in copy number of the glycophorin B-glycophorin A fusion gene. By developing a simple, specific, PCR-based assay for DUP4, we show that the DUP4 variant reaches a frequency of 13% in the population of a malaria-endemic village in south-eastern Tanzania. We genotype a substantial proportion of that village and demonstrate an association of DUP4 genotype with hemoglobin levels, a phenotype related to malaria, using a family-based association test. Taken together, we show that DUP4 is a complex structural variant that may be susceptible to somatic variation and show that DUP4 is associated with a malarial-related phenotype in a longitudinally followed population.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.