ArticleThe Journal of clinical investigation1990
Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association.
Article in The Journal of clinical investigation, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 106 citations in OpenAlex.
- Regulation of Actin Dynamics in theJournal of developmental biology · 2019Review
- Conformational Distortions of the Red Blood Cell Spectrin Matrix Nanostructure in Response to Temperature ChangesScanning · 2019Article
- Spectrin regulates cell contractility through production and maintenance of actin bundles in the Caenorhabditis elegans spermatheca.Molecular biology of the cell · 2018Article
- Probing conformational stability and dynamics of erythroid and nonerythroid spectrin: effects of urea and guanidine hydrochloride.PloS one · 2015Article
- Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.Human molecular genetics · 2010Article
- The spectrin-ankyrin-4.1-adducin membrane skeleton: adapting eukaryotic cells to the demands of animal life.Protoplasma · 2010Review
- Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex.Blood · 2010Article
- A fused alpha-beta "mini-spectrin" mimics the intact erythrocyte spectrin head-to-head tetramer.The Journal of biological chemistry · 2010Article
- Conformational changes at the tetramerization site of erythroid alpha-spectrin upon binding beta-spectrin: a spin label EPR study.Biochemistry · 2008Article
- Article
- Unexpected complexity in the mechanisms that target assembly of the spectrin cytoskeleton.The Journal of biological chemistry · 2008Article
- Spectrin functions upstream of ankyrin in a spectrin cytoskeleton assembly pathway.The Journal of cell biology · 2006Article
- Functional links between membrane transport and the spectrin cytoskeleton.The Journal of membrane biology · 2006Review
- Spectrin alpha II and beta II isoforms interact with high affinity at the tetramerization site.The Biochemical journal · 2003Article
- Article
- Spectrin self-association site: characterization and study of beta-spectrin mutations associated with hereditary elliptocytosis.The Biochemical journal · 1998Article
- Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.The Journal of clinical investigation · 1997Article
- 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
- Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.The Journal of clinical investigation · 1995Article
- Drosophila development requires spectrin network formation.The Journal of cell biology · 1995Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
alpha I/74 hereditary elliptocytosis (HE) is a subgroup of HE in which patients exhibit an impaired self-association of spectrin dimers and an abnormal proteolytic cleavage of the alpha I domain of spectrin. We studied a family in which the proband presented with a severe neonatal hemolytic anemia with poikilocytosis. Biochemical analysis of erythrocytes from the proband and his family members allowed us to ascertain a diagnosis of homozygosity for alpha I/74 HE in the proband and heterozygosity in his parents and several of their offspring. Results of polymorphism linkage analysis suggested that the defect in this family was located in beta rather than alpha spectrin. We analyzed the 3' end of the beta-spectrin gene of the proband and detected a mutation that changes a codon for alanine to one for proline. Allele-specific oligomer hybridization on slot blots of DNA from other family members confirmed the presence of the mutation only in members heterozygous for the disorder. This is the first example of a point mutation in the beta-spectrin chain that is associated with defective spectrin dimer self-association and an abnormal proteolytic cleavage of the alpha chain. Based on this finding, we propose a model for the mechanism of interaction between the alpha- and beta-spectrin chains.
Indexed as
Identifiers
What OpenQuestion holds
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.