1996
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.
Jenkins PB, Abou-Alfa GK, Dhermy D, Bursaux E, Féo C, Scarpa AL, Lux SE, Garbarz M, Forget BG, Gallagher PG. A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. Journal Of Clinical Investigation 1996, 97: 373-380. PMID: 8567957, PMCID: PMC507027, DOI: 10.1172/jci118425.Peer-Reviewed Original ResearchConceptsBand 3 geneCytoplasmic domainNonsense mutationGenomic DNABand 3 cytoplasmic domainErythrocyte band 3 geneErythrocyte membrane mechanical stabilityEntire transmembrane domainBand 3Membrane mechanical stabilityBand 3 proteinTransmembrane domainNucleotide sequenceRT-PCRFamily membersStudy of erythrocytesMRNA accumulationSequence analysisAnion transport studiesBand 3 defectsTypical hereditary spherocytosisHS mutationsReticulocyte RNAUnaffected family membersRNA
1991
Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.
Garbarz M, Tse WT, Gallagher PG, Picat C, Lecomte MC, Galibert F, Dhermy D, Forget BG. Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation. Journal Of Clinical Investigation 1991, 88: 76-81. PMID: 2056132, PMCID: PMC296005, DOI: 10.1172/jci115307.Peer-Reviewed Original ResearchConceptsBeta-spectrin chainBeta-spectrin geneCDNA amplification productsAmino acidsExon YGenomic DNANucleotide sequencingExample of exonMolecular defectsAnalysis of cDNAAmplification productsHereditary elliptocytosisConsensus splice sitesNovel amino acidCarboxy terminusIntron downstreamSplice siteSplice site mutationSouthern blotExonsExon skipReticulocyte RNACDNAPenultimate exonSite mutation