ArticleThe Journal of clinical investigation1996
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.
Article in The Journal of clinical investigation, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
28 citing papers in PubMed, 190 citations in OpenAlex.
- Across species: A comparative perspective on red cell homeostasis and its influence on our understanding of human physiology and disease.British journal of haematology · 2026Review
- Main events and mechanism of human erythrocyte ageing.Expert reviews in molecular medicine · 2026Review
- Red cell shape regulation by band 3-ankyrin-spectrin linkage: implications for clinical severity of bovine hereditary spherocytosis.Blood red cells & iron · 2025Article
- Comprehensive analysis of 124 transcriptomes from 31 tissues in developing, juvenile, and adult Japanese Black cattle.DNA research : an international journal for rapid publication of reports on genes and genomes · 2022Article
- Editorial: Comparative biology of red blood cells.Frontiers in physiology · 2022Article
- Cell physiology and molecular mechanism of anion transport by erythrocyte band 3/AE1.American journal of physiology. Cell physiology · 2021Review
- Identification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle.Scientific reports · 2021Article
- Mouse models of SLC4-linked disorders of HCOAmerican journal of physiology. Cell physiology · 2018Review
- A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis.Blood · 2018Article
- Exploring the Potential Roles of Band 3 and Aquaporin-1 in Blood COFrontiers in physiology · 2018Review
- The cytoskeletal binding domain of band 3 is required for multiprotein complex formation and retention during erythropoiesis.Haematologica · 2015Article
- A new class of endoplasmic reticulum export signal PhiXPhiXPhi for transmembrane proteins and its selective interaction with Sec24C.The Journal of biological chemistry · 2013Article
- Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndrome.PloS one · 2013Article
- Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.Journal of the American Society of Nephrology : JASN · 2012Article
- Critical band 3 multiprotein complex interactions establish early during human erythropoiesis.Blood · 2011Article
- The SV40 late protein VP4 is a viroporin that forms pores to disrupt membranes for viral release.PLoS pathogens · 2011Article
- Band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak.International journal of cell biology · 2011Article
- Article
- Molecular physiology and genetics of Na+-independent SLC4 anion exchangers.The Journal of experimental biology · 2009Review
- Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systems.ILAR journal · 2009Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We studied bovine subjects that exhibited a moderate uncompensated anemia with hereditary spherocytosis inherited in an autosomal incompletely dominant mode and retarded growth. Based on the results of SDS-PAGE, immunoblotting, and electron microscopic analysis by the freeze fracture method, we show here that the proband red cells lacked the band 3 protein completely. Sequence analysis of the proband band 3 cDNA and genomic DNA showed a C --> T substitution resulting in a nonsense mutation (CGA --> TGA; Arg --> Stop) at the position corresponding to codon 646 in human red cell band 3 cDNA. The proband red cells were deficient in spectrin, ankyrin, actin, and protein 4.2, resulting in a distorted and disrupted membrane skeletal network with decreased density. Therefore, the proband red cell membranes were extremely unstable and showed the loss of surface area in several distinct ways such as invagination, vesiculation, and extrusion of microvesicles, leading to the formation of spherocytes. Total deficiency of band 3 also resulted in defective Cl-/HCO3- exchange, causing mild acidosis with decreases in the HCO3- concentration and total CO2 in the proband blood. Our results demonstrate that band 3 indeed contributes to red cell membrane stability, CO2 transport, and acid-base homeostasis, but is not always essential to the survival of this mammal.
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