ArticleThe Journal of clinical investigation1994
Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).
Article in The Journal of clinical investigation, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 95 citations in OpenAlex.
- Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.American journal of physiology. Cell physiology · 2021Review
- Bicarbonate Transport During Enamel Maturation.Calcified tissue international · 2017Review
- Article
- Augmented erythrocyte band-3 phosphorylation in septic mice.Biochimica et biophysica acta · 2007Article
- Membrane dynamics of the water transport protein aquaporin-1 in intact human red cells.Biophysical journal · 1999Article
- Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.The Journal of clinical investigation · 1998Article
- Electrogenic sulfate/chloride exchange in Xenopus oocytes mediated by murine AE1 E699Q.The Journal of general physiology · 1997Article
- Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.The Journal of clinical investigation · 1996Article
- Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation.The Journal of clinical investigation · 1996Article
- A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.The Journal of clinical investigation · 1996Article
- Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis.The Journal of clinical investigation · 1995Article
- Overexpression of AE1 Prague, but not of AE1 SAO, inhibits wild-type AE1 trafficking in Xenopus oocytes.The Journal of membrane biology · 1995Article
- Loss of rotational mobility of band 3 proteins in human erythrocyte membranes induced by antibodies to glycophorin A.Biophysical journal · 1995Article
- A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.The Journal of clinical investigation · 1995Article
- Action at a distance: another lesson from the red cell.Biophysical journal · 1994Article
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
Abstract
We describe a duplication of 10 nucleotides (2,455-2,464) in the band 3 gene in a kindred with autosomal dominant hereditary spherocytosis and a partial deficiency of the band 3 protein that is reflected by decreased rate of transmembrane sulfate flux and decreased density of intramembrane particles. The mutant allele potentially encodes an abnormal band 3 protein with a 3.5-kD COOH-terminal truncation; however, we did not detect the mutant protein in the membrane of mature red blood cells. Since the mRNA levels for the mutant and normal alleles are similar and since the band 3 content is the same in the light and dense red cell fractions, we conclude that the mutant band 3 is either not inserted into the plasma membrane or lost from the membrane prior to the release of red blood cells into circulation. We further show that the decrease in band 3 content principally involves the dimeric laterally and rotationally mobile fraction of the band 3 protein, while the laterally immobile and rotationally restricted band 3 fraction is left essentially intact. We propose that the decreased density of intramembrane particles decreases the stability of the membrane lipid bilayer and causes release of lipid microvesicles that leads to surface area deficiency and spherocytosis.
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