2018
Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia
Lezon-Geyda K, Schulz V, Maksimova Y, Gallagher P. Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia. Blood 2018, 132: 503. DOI: 10.1182/blood-2018-99-117752.Peer-Reviewed Original ResearchMRNA transcriptsTermination codonK562 cellsMinigene assayIntron 30Precise genetic basisAcceptor sitesInsertion/deletion mutationsHereditary pyropoikilocytosisWhole-genome sequencingNMD inhibitorsAcceptor splice siteDiagnostic gene panelsGenome databaseMRNA splicingWild-type minigeneConsensus sitesAltered splicingExon 31Genetic basisTranscript productionErythroid cellsGene manipulationGenetic analysisWT background
2013
Enhancers and Super Enhancers Are Associated With Genes That Control Phenotypic Traits In Primary Human Erythroid Cells
Schulz V, Lezon-Geyda K, Maksimova Y, Gallagher P. Enhancers and Super Enhancers Are Associated With Genes That Control Phenotypic Traits In Primary Human Erythroid Cells. Blood 2013, 122: 1200. DOI: 10.1182/blood.v122.21.1200.1200.Peer-Reviewed Original ResearchTranscriptional start siteRegulation of programsSuper enhancersErythroid cellsGene expressionErythroid enhancerTF motifsTranscription factorsHistone H3 lysine 4 monomethylationSpecific enhancersH3K27ac modificationGWAS catalogGene locusHistone H3 lysine 27 acetylationCell type-specific enhancersPrimary human erythroid cellsH3 lysine 27 acetylationAlpha-globin gene clusterDisease-associated genetic variantsGenome-wide mapsNHGRI GWAS catalogSubset of enhancersHundreds of kilobasesLysine 27 acetylationSpecialized cell types
2012
Identification of Biologicaly Relevant Enhancers in Human Erythroid Cells
Su M, Steiner L, Bogardus H, Schulz V, Hardison R, Gallagher P. Identification of Biologicaly Relevant Enhancers in Human Erythroid Cells. Blood 2012, 120: 368. DOI: 10.1182/blood.v120.21.368.368.Peer-Reviewed Original ResearchTranscriptional start siteHuman erythroid cellsCell type-specific enhancersErythroid transcription factorsErythroid-specific genesTranscription factorsErythroid cellsCandidate enhancersSpecific enhancersSignificant enrichmentGene expressionPrimary human erythroid cellsRegulation of programsDisease-associated genetic variantsGenome-wide mapsHundreds of kilobasesSpecialized cell typesTranscription factor sitesKb of genesGene expression analysisParallel gene expression analysisGenomic vicinityGenomic methodologiesEvolutionary analysisHigh conservation
2011
Unbiased Identification of Functional Barrier Insulators in Primary Human Erythroid Cells,
Steiner L, Schulz V, Maksimova Y, Seidel N, Bodine D, Gallagher P. Unbiased Identification of Functional Barrier Insulators in Primary Human Erythroid Cells,. Blood 2011, 118: 3385. DOI: 10.1182/blood.v118.21.3385.3385.Peer-Reviewed Original ResearchHuman erythroid cellsPrimary human erythroid cellsPosition-effect variegationInsulator functionErythroid cellsCpG methylationBarrier insulatorsGene promoterCell type-specific gene expressionRepressive histone mark H3K27me3Unbiased identificationParallel sequencingUpstream stimulatory factor proteinsCTCF ChIP-seqMethyl-Binding DomainGenome-wide bindingGenome-wide mapsRole of CTCFCell type-specific mannerGenome-wide scaleHistone mark H3K27me3Chicken erythroid cellsDirection of transcriptionMultiple regulatory proteinsChIP-seq studiesTransfusion-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 phenotypeIntegrated Genome-Wide CTCF and CohesinSA1 Occupancy and Expression Analyses in Erythropoiesis
Schulz V, Steiner L, Maksimova Y, Gallagher P. Integrated Genome-Wide CTCF and CohesinSA1 Occupancy and Expression Analyses in Erythropoiesis. Blood 2011, 118: 1305. DOI: 10.1182/blood.v118.21.1305.1305.Peer-Reviewed Original ResearchSites of CTCFCTCF sitesCell-type specificIntergenic regionErythroid cellsChromatin domainsCohesin complexCell typesGene promoterRefSeq genesLong-range chromatin interactionsPrimary human erythroid cellsRepressive chromatin marksCell type-specific mannerDistal intergenic regionsMacromolecule catabolic processHigh-throughput sequencingHuman erythroid cellsMRNA transcriptome analysisChromatin marksChromatin interactionsChromosome segregationInduction of apoptosisCTCF bindingTranscriptional activator
2010
A Common Regulatory Signature Associated with Barrier Insulators in Human Primary Erythroid Cells
Steiner L, Maksimova Y, Schulz V, Gallagher P. A Common Regulatory Signature Associated with Barrier Insulators in Human Primary Erythroid Cells. Blood 2010, 116: 3868. DOI: 10.1182/blood.v116.21.3868.3868.Peer-Reviewed Original ResearchGenome-wide mapsPrimary erythroid cellsErythroid cellsProximal promoterChromatin domainsBarrier insulatorsChIP-seqRegulatory signaturesMammalian cellsGene promoterEnhancer-blocking insulator activityTissue-specific gene expressionUpstream stimulatory factor proteinsHeterochromatin-mediated geneGenome-wide occupancyRole of CTCFRecruitment of enzymesΒ-globin locusHistone methyltransferase activityHuman primary erythroid cellsSpecific transcription factorsChicken β-globin locusProximal promoter regionProtein CTCFChromatin boundariesDynamic CO-Localization of GATA1, NFE2, and EKLF and Changes in Gene Expression During Hematopoiesis
Steiner L, Schulz V, Maksimova Y, Mahajan M, Bodine D, Gallagher P. Dynamic CO-Localization of GATA1, NFE2, and EKLF and Changes in Gene Expression During Hematopoiesis. Blood 2010, 116: 741. DOI: 10.1182/blood.v116.21.741.741.Peer-Reviewed Original ResearchErythroid cellsGene expressionTranscription factorsProximal promoterCell type-specific gene expressionHuman beta-globin gene locusBeta-globin gene locusErythrocyte membrane protein genesErythroid-expressed genesGenome-wide scaleGlobin gene locusDNA-protein interactionsHuman primary erythroid cellsNF-E2Primary erythroid cellsMembrane protein geneSpecific gene expressionCritical regulatory elementsPrimary hematopoietic stemCommon regulatory siteUltrahigh-throughput sequencingLineage choiceChromatin immunoprecipitationCoordinated bindingEKLF
2009
Genome Wide Profiling of USF1 and USF2 Occupancy in Human Primary Erythroid Cells.
Steiner L, Schulz V, Maksimova Y, Tuck D, Gallagher P. Genome Wide Profiling of USF1 and USF2 Occupancy in Human Primary Erythroid Cells. Blood 2009, 114: 1456. DOI: 10.1182/blood.v114.22.1456.1456.Peer-Reviewed Original ResearchTranscription start siteLocus control regionBeta-globin locus control regionGenome-wide mapsUSF proteinsPrimary erythroid cellsBeta-globin promoterHypersensitive site 2Erythroid cellsTranscription factorsE-boxDevelopmental stage-specific genesInsulator elementsUSF bindingHelix-leucine zipper proteinBeta-globin transcriptionErythroid-expressed genesE-box consensus motifsMammalian erythroid cellsGenome-wide profilingHuman primary erythroid cellsLeucine zipper proteinCanonical E-boxMRNA transcript analysisChIP-seq experiments
2008
Insulator Elements in Erythrocyte Membrane Genes
Steiner L, Maksimova Y, Lin J, Owen A, Schulz V, Bodine D, Gallagher P. Insulator Elements in Erythrocyte Membrane Genes. Blood 2008, 112: 3584. DOI: 10.1182/blood.v112.11.3584.3584.Peer-Reviewed Original ResearchErythrocyte membrane protein genesPosition-effect variegationMembrane protein geneProtein geneChromatin domainsAnkyrin promoterDNA sequencesErythroid cellsInsulator elementsMapping protein-DNA interactionsHeterochromatin-mediated geneGenome-wide scaleGenomic DNA microarrayBinding of CTCFStage-specific transcriptsEnhancer-blocking functionProtein-DNA interactionsCopy number-dependent expressionTissue-specific expressionProtein gene expressionCTCF occupancyRepetitive DNAInsulator functionSeparate enhancersErythroid promoterChromatin Architecture and Transcription Factor Occupancy of Erythrocyte Membrane Genes Studied by Chromatin Immunoprecipitation on Microarrays (ChIP-chip)
Steiner L, Maksimova Y, Wong C, Schulz V, Gallagher P. Chromatin Architecture and Transcription Factor Occupancy of Erythrocyte Membrane Genes Studied by Chromatin Immunoprecipitation on Microarrays (ChIP-chip). Blood 2008, 112: 2436. DOI: 10.1182/blood.v112.11.2436.2436.Peer-Reviewed Original ResearchErythrocyte membrane protein genesNF-E2 siteMembrane protein geneGATA-1 sitesTranscriptional start siteChromatin architectureTranscription factor bindingPrimary erythroid cellsGATA-1Protein geneChromatin immunoprecipitationTranscription factorsErythroid cellsH3K4me3 enrichmentFlanking DNAFactor bindingDNA sequencesK562 cellsErythroid transcription factor GATA-1Mapping protein-DNA interactionsNon-erythroid cell linesTranscription factor GATA-1Quantitative ChIP analysisTranscription factor occupancyGenome-wide scale