1999
A Human β-Spectrin Gene Promoter Directs High Level Expression in Erythroid but Not Muscle or Neural Cells*
Gallagher P, Sabatino D, Romana M, Cline A, Garrett L, Bodine D, Forget B. A Human β-Spectrin Gene Promoter Directs High Level Expression in Erythroid but Not Muscle or Neural Cells*. Journal Of Biological Chemistry 1999, 274: 6062-6073. PMID: 10037687, DOI: 10.1074/jbc.274.10.6062.Peer-Reviewed Original ResearchConceptsBeta-spectrin geneGene promoterHigh-level expressionGATA-1Regulatory elementsReporter geneErythroid tissuesPromoter/reporter plasmidsGel mobility shift assaysLevel expressionGATA-1 motifsFull promoter activityTissue-specific expressionMobility shift assaysAdditional regulatory elementsErythrocyte membrane proteinsHuman tissue culture cell linesTissue culture cell linesErythroid promoterMembrane proteinsShift assaysBeta spectrinHeterologous cellsCell shapeDNase I
1998
An Alternate Promoter Directs Expression of a Truncated, Muscle-specific Isoform of the Human Ankyrin 1 Gene*
Gallagher P, Forget B. An Alternate Promoter Directs Expression of a Truncated, Muscle-specific Isoform of the Human Ankyrin 1 Gene*. Journal Of Biological Chemistry 1998, 273: 1339-1348. PMID: 9430667, DOI: 10.1074/jbc.273.3.1339.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingAmino Acid SequenceAnkyrinsBase SequenceCloning, MolecularDNA, ComplementaryErythroid Precursor CellsExonsGene Expression RegulationHumansMolecular Sequence DataMuscle, SkeletalMusclesMyocardiumMyoD ProteinPromoter Regions, GeneticRecombinant ProteinsTranscriptional ActivationConceptsKilobase pairsMuscle cDNADeduced amino acid sequenceCorresponding chromosomal geneHydrophobic NH2 terminusCultured C2C12 muscle cellsHuman ankyrin-1 geneSkeletal muscle cDNADNA-protein interactionsE-box consensusAmino acid sequenceK562 cellsMuscle-specific isoformPromoter directs expressionC2C12 muscle cellsAnkyrin-1 geneReporter gene plasmidHigh-level expressionNorthern blot analysisErythroid genesErythrocyte membrane proteinsSingle Sp1Erythroid promoterAlternative splicingRich promoter
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