2005
A novel splicing mutation of the α-spectrin gene in the original hereditary pyropoikilocytosis kindred
Costa DB, Lozovatsky L, Gallagher PG, Forget BG. A novel splicing mutation of the α-spectrin gene in the original hereditary pyropoikilocytosis kindred. Blood 2005, 106: 4367-4369. PMID: 16150946, PMCID: PMC1895230, DOI: 10.1182/blood-2005-05-1813.Peer-Reviewed Original ResearchConceptsFrame premature termination codonsRed blood cell membrane skeletonCell membrane skeletonΑ-spectrin geneHereditary pyropoikilocytosisPremature termination codonConsensus splice sitesTissue culture cellsNovel splicing mutationMembrane skeletonIntronic fragmentTermination codonGene transcriptsAlpha-spectrinAbnormal splicingSplice siteStructural variantsGene transferMolecular defectsSplicing mutationCulture cellsAllelesExon 22TranscriptsMutations
2004
Sequences Downstream of the Erythroid Promoter Are Required for High Level Expression of the Human α-Spectrin Gene*
Wong EY, Lin J, Forget BG, Bodine DM, Gallagher PG. Sequences Downstream of the Erythroid Promoter Are Required for High Level Expression of the Human α-Spectrin Gene*. Journal Of Biological Chemistry 2004, 279: 55024-55033. PMID: 15456760, DOI: 10.1074/jbc.m408886200.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceBinding SitesCell DifferentiationCell MembraneCell NucleusChromatin ImmunoprecipitationCREB-Binding ProteinDeoxyribonuclease IDNADNA PrimersDNA, ComplementaryDNA-Binding ProteinsErythrocytesErythroid-Specific DNA-Binding FactorsEthidiumExonsGATA1 Transcription FactorGenes, ReporterHeLa CellsHumansImmunoprecipitationIntronsK562 CellsLuciferasesModels, GeneticMolecular Sequence DataMutationNuclear ProteinsPlasmidsPromoter Regions, GeneticSpectrinTemperatureTrans-ActivatorsTranscription FactorsTransfectionConceptsErythroid-specific expressionAlpha-spectrin geneGATA-1 sitesCore promoterDNase I hypersensitive sitesElectrophoretic mobility shift assaysChromatin immunoprecipitation assaysMobility shift assaysΑ-spectrin geneThymidine kinase promoterPositive regulatory elementHigh-level expressionGenomic orientationErythroid promoterGATA-1Membrane proteinsHypersensitive sitesImmunoprecipitation assaysRegulatory elementsSequence downstreamShift assaysErythroid differentiationTransfection assaysEnhancer activityReporter gene