2007
Alternate Promoters Direct Tissue-Specific Expression of Erythrocyte Ankyrin Transcripts with Novel NH2-Termini.
Steiner L, Lin J, Owens A, Sangerman J, Bodine D, Gallagher P. Alternate Promoters Direct Tissue-Specific Expression of Erythrocyte Ankyrin Transcripts with Novel NH2-Termini. Blood 2007, 110: 1710. DOI: 10.1182/blood.v110.11.1710.1710.Peer-Reviewed Original ResearchExon 1AExon 1bInitiator methionineFirst exonKb downstreamErythroid cellsNH2 terminusDNase I hypersensitive site mappingDirect tissue-specific expressionAmino acidsHypersensitive site mappingTissue-restricted patternTissue-specific expressionExon 1Alternate first exonsQuantitative RT-PCR analysisGATA-1 sitesTissue-specific promotersGene expression studiesLuciferase expressionExon 2 sequencesSkeletal muscleIsoform diversityAnkyrin repeatsAnkyrin-1 mutations
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