ArticleProceedings of the National Academy of Sciences of the United States of America1991
Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 1 of them a synthesis that pooled it.
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Who cites it
77 citing papers in PubMed, 1 synthesis or guideline pooled it, 293 citations in OpenAlex.
- Clinical features and outcome in children with severe Plasmodium falciparum malaria: a meta-analysis.PloS one · 2014Pooled it
- Accurate light microscopic diagnosis of South-East Asian ovalocytosis.International journal of laboratory hematology · 2018Trial
- Cryo-EM structures of the human band 3 transporter indicate a transport mechanism involving the coupled movement of chloride and bicarbonate ions.PLoS biology · 2024Article
- Quantifying differences in iron deficiency-attributable anemia during pregnancy and postpartum.Cell reports. Medicine · 2023Article
- Mutations and clinical characteristics of dRTA caused byFrontiers in pediatrics · 2023Review
- What Decides Your Athletic Career?-Reflection from Our Study of GP.Mur-Associated Sports Talents during the COVID-19 Pandemic Era.International journal of environmental research and public health · 2022Article
- Genetics of Chronic Kidney Disease in Low-Resource Settings.Seminars in nephrology · 2022Review
- Band 3-mediatedFrontiers in cellular and infection microbiology · 2022Article
- Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.American journal of physiology. Cell physiology · 2021Review
- Identifying adaptive alleles in the human genome: from selection mapping to functional validation.Human genetics · 2021Review
- The Gardos effect drives erythrocyte senescence and leads to Lu/BCAM and CD44 adhesion molecule activation.Blood advances · 2020Article
- Adaptive immunity selects against malaria infection blocking mutations.PLoS computational biology · 2020Article
- Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation.Frontiers in physiology · 2020Article
- Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists.Clinical and molecular hepatology · 2019Article
- Molecular Simulations of Intact Anion Exchanger 1 Reveal Specific Domain and Lipid Interactions.Biophysical journal · 2019Article
- The radial expansion of the Diego blood group system polymorphisms in Asia: mark of co-migration with the Mongol conquests.European journal of human genetics : EJHG · 2019Article
- Host genetics in malaria: lessons from mouse studies.Mammalian genome : official journal of the International Mammalian Genome Society · 2018Review
- Mouse models of SLC4-linked disorders of HCOAmerican journal of physiology. Cell physiology · 2018Review
- Exploring the Potential Roles of Band 3 and Aquaporin-1 in Blood COFrontiers in physiology · 2018Review
- Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead.Pediatric health, medicine and therapeutics · 2018Review
17 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Southeast Asian ovalocytosis (SAO) is a hereditary condition that is widespread in parts of Southeast Asia. The ovalocytic erythrocytes are rigid and resistant to invasion by various malarial parasites. We have previously found that the underlying defect in SAO involves band 3 protein, the major transmembrane protein, which has abnormal structure and function. We now report two linked mutations in the erythrocyte band 3 gene in SAO: (i) a deletion of codons 400-408 and (ii) a substitution, A----G, in the first base of codon 56 leading to substitution of Lys-56 by Glu-56. The first defect leads to a deletion of nine amino acids in the boundary of cytoplasmic and membrane domains of band 3. This defect has been detected in all 30 ovalocytic subjects from Malaysia, the Philippines, and two unrelated coastal regions of Papua New Guinea, whereas it was absent in all 30 controls from Southeast Asia and 20 subjects of different ethnic origin from the United States. The Lys-56----Glu substitution has likewise been found in all SAO subjects. However, it has also been detected in 5 of the 50 control subjects, suggesting that it represents a linked polymorphism. We conclude that the deletion of codons 400-408 in the band 3 gene constitutes the underlying molecular defect in SAO.
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