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
1997
Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.
Gallagher PG, Petruzzi MJ, Weed SA, Zhang Z, Marchesi SL, Mohandas N, Morrow JS, Forget BG. Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia. Journal Of Clinical Investigation 1997, 99: 267-277. PMID: 9005995, PMCID: PMC507794, DOI: 10.1172/jci119155.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Hemolytic, CongenitalArginineBase SequenceConserved SequenceErythrocyte MembraneFemaleHomozygoteHumansHydrops FetalisLaosLeucineMaleMembrane ProteinsModels, MolecularMuscle, SkeletalPedigreePeptide MappingPoint MutationPolymerase Chain ReactionProtein ConformationSequence Analysis, DNASpectrinConceptsImportance of leucineEvolutionary conservationSpectrin functionSpectrin repeatsBeta spectrinBetaI spectrinTriple helical modelGenetic studiesSpectrinMutationsSkeletal muscleMolecular modelingTriple helixNormal functionHelical modelLeucineErythrocyte membranesDrosophilaHydrophobic interactionsNeonatal hemolytic anemiaRepeatsHelixConservationResiduesMembrane
1996
The lethal hemolytic mutation in beta I sigma 2 spectrin Providence yields a null phenotype in neonatal skeletal muscle.
Weed SA, Stabach PR, Oyer CE, Gallagher PG, Morrow JS. The lethal hemolytic mutation in beta I sigma 2 spectrin Providence yields a null phenotype in neonatal skeletal muscle. Laboratory Investigation 1996, 74: 1117-29. PMID: 8667615.Peer-Reviewed Original ResearchConceptsBeta ISpectrin skeletonSkeletal muscleMost such mutationsGene transferAdult mouse skeletal muscleDominant-negative fashionErythroid lineage cellsNeonatal skeletal muscleCultured muscle cellsAlpha beta heterodimersErythrocyte shape abnormalitiesMuscle cellsMouse skeletal muscleDefective proteinSpectrin geneAlternative transcriptsHemolytic phenotypeCDNA constructsNull phenotypeC2C12 myoblastsBeta heterodimerSpectrin mutationsSedimentation velocity analysisIntracellular distribution
1995
cDNA Structure, Tissue-Specific Expression, and Chromosomal Localization of the Murine Band 7.2b Gene
Gallagher P, Romana M, Lieman J, Ward D. cDNA Structure, Tissue-Specific Expression, and Chromosomal Localization of the Murine Band 7.2b Gene. Blood 1995, 86: 359-365. PMID: 7540886, DOI: 10.1182/blood.v86.1.359.bloodjournal861359.Peer-Reviewed Original ResearchConceptsTissue-specific expressionSingle membrane-spanning domainMembrane-spanning domainsBp of cDNAOpen reading frameChromosomal localizationSignificant homologyReading frameCDNA structureHuman homologueAlpha-helixProtein structureBeta sheetAmino acidsErythrocyte membranesGenesProximal regionDatabase searchingProteinSitu hybridizationCDNADistal regionWider patternsSkeletal muscleExpression