ArticleThe Journal of clinical investigation1993
An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells.
Article in The Journal of clinical investigation, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 42 citations in OpenAlex.
- Cytoskeletal Protein 4.1R in Health and Diseases.Biomolecules · 2024Review
- Vaccination accelerates hepatic erythroblastosis induced by blood-stage malaria.Malaria journal · 2020Article
- Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.Cold Spring Harbor molecular case studies · 2016Article
- Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits.Cell · 2016Article
- Article
- Alternatively spliced exon 5 of the FERM domain of protein 4.1R encodes a novel binding site for erythrocyte p55 and is critical for membrane targeting in epithelial cells.Biochimica et biophysica acta · 2009Article
- Cardiac cytoskeleton and arrhythmia: an unexpected role for protein 4.1R in cardiac excitability.Circulation research · 2008Article
- Protein 4.1R-deficient mice are viable but have erythroid membrane skeleton abnormalities.The Journal of clinical investigation · 1999Article
- Drosophila coracle, a member of the protein 4.1 superfamily, has essential structural functions in the septate junctions and developmental functions in embryonic and adult epithelial cells.Molecular biology of the cell · 1998Article
- The genes raw and ribbon are required for proper shape of tubular epithelial tissues in Drosophila.Genetics · 1997Article
- Structural protein 4.1 in the nucleus of human cells: dynamic rearrangements during cell division.The Journal of cell biology · 1997Article
- The Duffy antigen/receptor for chemokines (DARC) is expressed in endothelial cells of Duffy negative individuals who lack the erythrocyte receptor.The Journal of experimental medicine · 1995Article
- Postcapillary venule endothelial cells in kidney express a multispecific chemokine receptor that is structurally and functionally identical to the erythroid isoform, which is the Duffy blood group antigen.The Journal of clinical investigation · 1994Article
- Differentiation-associated switches in protein 4.1 expression. Synthesis of multiple structural isoforms during normal human erythropoiesis.The Journal of clinical investigation · 1993Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Multiple protein 4.1 isoforms are expressed in a variety of tissues through complex alternative pre-mRNA splicing events, one function of which is to regulate use of two alternative translation initiation signals. Late erythroid cells express mainly the downstream initiation site for synthesis of prototypical 80-kD isoforms; nonerythroid cells in addition use an upstream site to encode higher molecular mass isoform(s). In this study, we examined the effects of a 5' gene rearrangement in a family with hereditary elliptocytosis and complete deficiency of erythrocyte 4.1 protein on 4.1 isoform expression in erythroid vs. nonerythroid cells. Patient 4.1 mRNAs from reticulocytes, fibroblasts, and B lymphocytes were amplified by reverse transcriptase/polymerase chain reaction techniques and shown to exhibit a 318-nucleotide deletion that encompasses the downstream AUG, but leaves intact the upstream AUG. Immunoblot analysis revealed a total deficiency of 4.1 in patient red cells and a selective deficiency of 80-kD isoform(s) but not high molecular weight 4.1 in patient nonerythroid cells. Thus, the 4.1 gene mutation in this family produces an isoform-specific deficiency that is manifested clinically in tissue-specific fashion, such that red cells are affected but other cell types are unaffected because of tissue-specific differences in RNA splicing and translation initiation.
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