2011
Transfusion-Dependent Alpha-Spectrin Deficient Hemolytic Anemia Due to Maternal Uniparental Disomy
Bogardus H, Schulz V, Maksimova Y, Miller B, Forget B, Gallagher P. Transfusion-Dependent Alpha-Spectrin Deficient Hemolytic Anemia Due to Maternal Uniparental Disomy. Blood 2011, 118: 1030. DOI: 10.1182/blood.v118.21.1030.1030.Peer-Reviewed Original ResearchAlpha-spectrin geneArray comparative genomic hybridizationGene locusGenomic DNANonsense mutationUniparental disomyDeleterious recessive mutationsEntire human genomeMaternal uniparental disomyCultured erythroid cellsParental genomic DNARegions of homozygosityHuman genomeSingle chromosomeComparative genomic hybridizationMolecular basisSNP dataSPTA1 geneHomozygous nonsense mutationChromosome 1Erythroid cellsGene regionPromoter regionRecessive mutationsAnemia phenotypeGenome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation
Pilon AM, Ajay SS, Kumar SA, Steiner LA, Cherukuri PF, Wincovitch S, Anderson SM, Mullikin J, Gallagher P, Hardison R, Margulies E, Bodine D. Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation. Blood 2011, 118: e139-e148. PMID: 21900194, PMCID: PMC3208289, DOI: 10.1182/blood-2011-05-355107.Peer-Reviewed Original ResearchConceptsErythroid Kruppel-like factorKruppel-like factorChIP-seqTranscription factorsGenome-wide ChIP-seqProgenitor cellsMouse erythroid progenitor cellsCell cycle regulatory pathwaysErythroid transcription factorsGeneral cell growthRNA-seq analysisErythroid progenitor cellsTranscriptional activatorGATA factorsIntragenic regionsErythrocyte differentiationRegulatory pathwaysNuclear distributionPromoter regionParallel sequencingInteractomeDifferentiated erythroblastsCell growthTAL1Little overlap
2007
Regulators of Erythrocyte Volume as Modifiers in Sickle Cell Disease: The Gardos Channel.
Tian C, Okam M, Alper S, Steinberg M, Brugnara C, Gallagher P. Regulators of Erythrocyte Volume as Modifiers in Sickle Cell Disease: The Gardos Channel. Blood 2007, 110: 3387. DOI: 10.1182/blood.v110.11.3387.3387.Peer-Reviewed Original ResearchModifier genesMissense mutationsChannel genesSequence analysisErythrocyte hydrationSmaller mRNA speciesGenetic variantsReverse transcription-PCR analysisNucleotide sequence analysisBand 3Disease-associated mutationsCore promoter regionFunction of transportersBand 3 geneAquaporin-1 geneAberrant mRNAsSmaller transcriptMRNA speciesIdentification of targetsAquaporin 3 genePromoter regionSplice junctionsChannel proteinsChannel mRNARegion exons
2004
Human potassium chloride cotransporter 1 (SLC12A4) promoter is regulated by AP-2 and contains a functional downstream promoter element
Zhou GP, Wong C, Su R, Crable SC, Anderson KP, Gallagher PG. Human potassium chloride cotransporter 1 (SLC12A4) promoter is regulated by AP-2 and contains a functional downstream promoter element. Blood 2004, 103: 4302-4309. PMID: 14976052, DOI: 10.1182/blood-2003-01-0107.Peer-Reviewed Original ResearchMeSH Keywords5' Untranslated RegionsAcetylationBase SequenceCarcinoma, HepatocellularChromatinCloning, MolecularDNA-Binding ProteinsErythroid CellsHeLa CellsHumansK562 CellsMolecular Sequence DataPrecipitin TestsPromoter Regions, GeneticSp1 Transcription FactorSymportersTranscription Factor AP-2Transcription FactorsTranscription Initiation SiteConceptsDownstream promoter elementAP-2Gene promoterSp1 sitesK-Cl cotransportPromoter elementsKCC1 geneMammalian gene promotersElectrophoretic mobility shift assaysChromatin immunoprecipitation assaysFull promoter activityMobility shift assaysCore promoter regionReporter gene assayChloride cotransporter 1TATA boxImmunoprecipitation assaysInitiator elementShift assaysHeterologous cellsMutational analysisDNase IPromoter regionGenomic DNAPromoter activity