2015
A Pediatrician’s Practical Guide to Diagnosing and Treating Hereditary Spherocytosis in Neonates
Christensen RD, Yaish HM, Gallagher PG. A Pediatrician’s Practical Guide to Diagnosing and Treating Hereditary Spherocytosis in Neonates. Pediatrics 2015, 135: 1107-1114. PMID: 26009624, PMCID: PMC4444801, DOI: 10.1542/peds.2014-3516.Peer-Reviewed Original ResearchConceptsHereditary spherocytosisDiagnosis of HSABO hemolytic diseaseGlucose-6-phosphate dehydrogenase deficiencyHazardous hyperbilirubinemiaErythrocyte transfusionSymptomatic anemiaNeurologic dysfunctionPrompt diagnosisAdverse outcomesEmergency departmentNewborn periodNeonatal presentationNewborn infantsHemolytic diseaseAppropriate treatmentEarly suspicionHemolytic anemiaHemolytic conditionsAnticipatory guidanceNeonatesFirst monthAnemiaDehydrogenase deficiencyHyperbilirubinemia
2014
Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus
Bogardus H, Schulz VP, Maksimova Y, Miller BA, Li P, Forget BG, Gallagher PG. Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus. Haematologica 2014, 99: e168-e170. PMID: 24895341, PMCID: PMC4562552, DOI: 10.3324/haematol.2014.110312.Peer-Reviewed Original Research
2012
A tissue-specific chromatin loop activates the erythroid ankyrin-1 promoter
Yocum AO, Steiner LA, Seidel NE, Cline AP, Rout ED, Lin JY, Wong C, Garrett LJ, Gallagher PG, Bodine DM. A tissue-specific chromatin loop activates the erythroid ankyrin-1 promoter. Blood 2012, 120: 3586-3593. PMID: 22968456, PMCID: PMC3482866, DOI: 10.1182/blood-2012-08-450262.Peer-Reviewed Original Research3' Untranslated Regions5' Untranslated RegionsAnimalsAnkyrinsBinding SitesCell Line, TumorChromatinDeoxyribonuclease IEnhancer Elements, GeneticHistonesHumansInsulator ElementsK562 CellsMiceMice, TransgenicNF-E2 Transcription Factor, p45 SubunitOrgan SpecificityPromoter Regions, GeneticProtein BindingProtein IsoformsSpherocytosis, Hereditary
2010
Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis
Gallagher PG, Steiner LA, Liem RI, Owen AN, Cline AP, Seidel NE, Garrett LJ, Bodine DM. Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosis. Journal Of Clinical Investigation 2010, 120: 4453-4465. PMID: 21099109, PMCID: PMC2993586, DOI: 10.1172/jci42240.Peer-Reviewed Original ResearchConceptsAnkyrin-1 geneBarrier insulatorsTransgenic miceUpstream regionErythroid promoterChromatin configurationGene promoterErythroid cellsHereditary spherocytosisPotential pathogenetic mechanismsHuman ankyrin-1 geneHuman erythroid cell lineBarrier-associated proteinsErythroid cell linesPathogenetic mechanismsCommon causeUniform expressionNucleotide substitutionsRegion upstreamPromoter actsHuman diseasesPromoterCell linesPrimary cellsGenesGenome-wide detection of a TFIID localization element from an initial human disease mutation
Yang MQ, Laflamme K, Gotea V, Joiner CH, Seidel NE, Wong C, Petrykowska HM, Lichtenberg J, Lee S, Welch L, Gallagher PG, Bodine DM, Elnitski L. Genome-wide detection of a TFIID localization element from an initial human disease mutation. Nucleic Acids Research 2010, 39: 2175-2187. PMID: 21071415, PMCID: PMC3064768, DOI: 10.1093/nar/gkq1035.Peer-Reviewed Original ResearchConceptsPromoter elementsPromoter motifsHuman promotersCore promoter motifsEukaryotic core promotersGenome-wide scalePre-initiation complexTranscription factor TFIIDGenome-wide detectionNovel promoter elementTranscription start siteHuman disease mutationsBasal promoter elementsFactor TFIIDTranscriptional machineryGene regulationSp1 promoterConsensus motifLocalization sequenceTATA motifStart siteTATA boxInitiator elementLocalization elementsWidespread roleFunctional Analysis of a Novel cis-Acting Regulatory Region within the Human Ankyrin Gene (ANK-1) Promoter
Laflamme K, Owen AN, Devlin EE, Yang MQ, Wong C, Steiner LA, Garrett LJ, Elnitski L, Gallagher PG, Bodine DM. Functional Analysis of a Novel cis-Acting Regulatory Region within the Human Ankyrin Gene (ANK-1) Promoter. Molecular And Cellular Biology 2010, 30: 3493-3502. PMID: 20479128, PMCID: PMC2897556, DOI: 10.1128/mcb.00119-10.Peer-Reviewed Original ResearchMeSH Keywords5' Untranslated RegionsAnimalsAnkyrinsBase SequenceBinding SitesCell-Free SystemConsensus SequenceDNADNA PrimersGene LibraryHumansIn Vitro TechniquesMiceMice, TransgenicMolecular Sequence DataPromoter Regions, GeneticRegulatory Sequences, Nucleic AcidSequence DeletionSequence Homology, Nucleic AcidTATA-Box Binding ProteinTranscription Factor TFIIDTranscription, GeneticConceptsCell-free transcriptionPromoter functionGene promoterDinucleotide deletionANK-1 geneNovel regulatory elementFunctional promoter sequencesNovel functional motifsTransgenic mouse assaysPreinitiation complexRegulatory sequencesPromoter sequencesRegulatory regionsRegulatory elementsFunctional motifsUntranslated regionWild typeFunctional analysisAdditional sequencesDegenerate sequencePromoterMutationsTranscriptionDeletionSequence
2008
Ankyrin‐linked hereditary spherocytosis in an African–American kindred
Sangerman J, Maksimova Y, Edelman EJ, Morrow JS, Forget BG, Gallagher PG. Ankyrin‐linked hereditary spherocytosis in an African–American kindred. American Journal Of Hematology 2008, 83: 789-794. PMID: 18704959, PMCID: PMC11304496, DOI: 10.1002/ajh.21254.Peer-Reviewed Original ResearchConceptsInitiator methionineNull allelesErythrocyte membrane protein genesMembrane protein geneRabbit reticulocyte lysateTissue-specific promotersErythrocyte membrane skeletonExon 1 sequencesIsoform diversityAlternative splicingTranslation initiationProtein geneAnkyrin geneMembrane skeletonAlternate polyadenylationPlasma membraneReticulocyte lysateMethionine mutationCOOH terminusErythroid cellsDownstream codonsGenomic DNANumerous isoformsAnkyrinGenes
2007
An 11-amino acid β-hairpin loop in the cytoplasmic domain of band 3 is responsible for ankyrin binding in mouse erythrocytes
Stefanovic M, Markham NO, Parry EM, Garrett-Beal LJ, Cline AP, Gallagher PG, Low PS, Bodine DM. An 11-amino acid β-hairpin loop in the cytoplasmic domain of band 3 is responsible for ankyrin binding in mouse erythrocytes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2007, 104: 13972-13977. PMID: 17715300, PMCID: PMC1950715, DOI: 10.1073/pnas.0706266104.Peer-Reviewed Original ResearchConceptsCytoplasmic domainBeta-hairpin loopSpectrin-actinPlasma membraneBand 3Transmembrane protein band 3Β-hairpin loopProtein band 3Uncharacterized interactionMembrane proteinsProtein ankyrinCytoskeletal networkMembrane cytoskeletonCytoskeletal systemAnkyrinCurrent structural modelsErythrocyte membranesSLC4A1 geneLoop deletionComplete deficiencyDeletionMembraneMouse erythrocytesStructural supportDomainA complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis
Edelman EJ, Maksimova Y, Duru F, Altay C, Gallagher PG. A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. Blood 2007, 109: 5491-5493. PMID: 17327413, PMCID: PMC1890827, DOI: 10.1182/blood-2006-09-046573.Peer-Reviewed Original Research
2005
Hematologically important mutations: Ankyrin variants in hereditary spherocytosis
Gallagher PG. Hematologically important mutations: Ankyrin variants in hereditary spherocytosis. Blood Cells Molecules And Diseases 2005, 35: 345-347. PMID: 16223590, DOI: 10.1016/j.bcmd.2005.08.008.Peer-Reviewed Original ResearchA dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis
Gallagher PG, Nilson DG, Wong C, Weisbein JL, Garrett-Beal LJ, Eber SW, Bodine DM. A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis. Human Molecular Genetics 2005, 14: 2501-2509. PMID: 16037067, DOI: 10.1093/hmg/ddi254.Peer-Reviewed Original ResearchMeSH KeywordsAnkyrinsBase CompositionDNA PrimersErythrocyte MembraneGene Expression RegulationGenes, ReporterHumansPeptide Chain Initiation, TranslationalPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalPromoter Regions, GeneticSequence DeletionSpherocytosis, HereditaryTATA BoxTranscription Factor TFIIDTranscription, GeneticConceptsTFIID complex formationTATA-binding proteinTranscription initiation siteGene expressionAnkyrin promoterCis elementsInitiation siteCore promoter DNAMultiple transcription initiation sitesPreinitiation complex formationStart site utilizationComplex formationSite utilizationAlters gene expressionTFIID complexFunctional Sp1Promoter DNATranscription initiationTypes of promotersErythroid promoterMammalian promotersGene transcriptionTG deletionMutant promotersReporter gene
2004
Update on the clinical spectrum and genetics of red blood cell membrane disorders.
Gallagher PG. Update on the clinical spectrum and genetics of red blood cell membrane disorders. Current Hematology Reports 2004, 3: 85-91. PMID: 14965483.Peer-Reviewed Original ResearchConceptsStructure/function relationshipsSignificant genetic heterogeneityPrecise genetic defectGenetic lociMolecular biologyRed blood cell membrane disordersSplicing mutationGene deletionNonsense mutationCell membraneFunction relationshipsGenetic heterogeneityGenetic defectsHereditary elliptocytosisMembrane disordersRed blood cell membraneBlood cell membranesHereditary pyropoikilocytosisMutationsBetter understandingErythrocyte membranesMembraneLociGeneticsBiology
2001
Erythrocyte Ankyrin Promoter Mutations Associated with Recessive Hereditary Spherocytosis Cause Significant Abnormalities in Ankyrin Expression*
Gallagher P, Sabatino D, Basseres D, Nilson D, Wong C, Cline A, Garrett L, Bodine D. Erythrocyte Ankyrin Promoter Mutations Associated with Recessive Hereditary Spherocytosis Cause Significant Abnormalities in Ankyrin Expression*. Journal Of Biological Chemistry 2001, 276: 41683-41689. PMID: 11527968, DOI: 10.1074/jbc.m105844200.Peer-Reviewed Original ResearchSpectrin Oligomerization is Cooperatively Coupled to Membrane Assembly: A Linkage Targeted by Many Hereditary Hemolytic Anemias?
Giorgi M, Cianci C, Gallagher P, Morrow J. Spectrin Oligomerization is Cooperatively Coupled to Membrane Assembly: A Linkage Targeted by Many Hereditary Hemolytic Anemias? Experimental And Molecular Pathology 2001, 70: 215-230. PMID: 11418000, DOI: 10.1006/exmp.2001.2377.Peer-Reviewed Original ResearchDevelopment of a Stable Retrovirus Vector Capable of Long‐Term Expression of γ‐Globin mRNA in Mouse Erythrocytes
SABATINO D, SEIDEL N, CLINE A, ANDERSON S, GALLAGHER P, BODINE D. Development of a Stable Retrovirus Vector Capable of Long‐Term Expression of γ‐Globin mRNA in Mouse Erythrocytes. Annals Of The New York Academy Of Sciences 2001, 938: 246-261. PMID: 11458514, DOI: 10.1111/j.1749-6632.2001.tb03595.x.Peer-Reviewed Original ResearchConceptsGamma-globin geneLocus control regionGamma-globin mRNARetrovirus vectorHematopoietic stem cellsGene promoterHuman gamma-globin geneMouse alpha-globin mRNAGlobin gene promoterAlpha-globin mRNAStem cellsMature red blood cellsNumber-dependent expressionMouse progenitor cellsΓ-globin mRNAGlobin genesControl regionLevel of expressionStable gene transferGenesGene transferPromoterProgenitor cellsGene therapyMRNA
2000
A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis.
Gallagher P, Ferreira J, Costa F, Saad S, Forget B. A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. British Journal Of Haematology 2000, 111: 1190-3. PMID: 11167760, DOI: 10.1046/j.1365-2141.2000.02441.x.Peer-Reviewed Original ResearchA recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis
Gallagher P, Ferreira J, Costa F, Saad S, Forget B. A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. British Journal Of Haematology 2000, 111: 1190-1193. DOI: 10.1111/j.1365-2141.2000.02441.x.Peer-Reviewed Original ResearchLong-term expression of γ-globin mRNA in mouse erythrocytes from retrovirus vectors containing the human γ-globin gene fused to the ankyrin-1 promoter
Sabatino D, Seidel N, Aviles-Mendoza G, Cline A, Anderson S, Gallagher P, Bodine D. Long-term expression of γ-globin mRNA in mouse erythrocytes from retrovirus vectors containing the human γ-globin gene fused to the ankyrin-1 promoter. Proceedings Of The National Academy Of Sciences Of The United States Of America 2000, 97: 13294-13299. PMID: 11069298, PMCID: PMC27218, DOI: 10.1073/pnas.230453097.Peer-Reviewed Original ResearchConceptsGlobin genesRetrovirus vectorHematopoietic stem cellsGene promoterHuman γ-globin genesMouse alpha-globin mRNACis-acting regulatory sequencesGlobin gene promoterMouse hematopoietic stem cellsΓ-globin geneGamma-globin geneAlpha-globin mRNAStem cellsMature red blood cellsNumber-dependent expressionIntact proviral sequencesΓ-globin mRNARegulatory sequencesLevel of expressionGlobin mRNARed cell disordersGenesPromoterA Minimal Ankyrin Promoter Linked to a Human γ-Globin Gene Demonstrates Erythroid Specific Copy Number Dependent Expression with Minimal Position or Enhancer Dependence in Transgenic Mice*
Sabatino D, Wong C, Cline A, Pyle L, Garrett L, Gallagher P, Bodine D. A Minimal Ankyrin Promoter Linked to a Human γ-Globin Gene Demonstrates Erythroid Specific Copy Number Dependent Expression with Minimal Position or Enhancer Dependence in Transgenic Mice*. Journal Of Biological Chemistry 2000, 275: 28549-28554. PMID: 10878017, DOI: 10.1074/jbc.m004043200.Peer-Reviewed Original ResearchConceptsAnkyrin promoterPosition-independent expressionErythroid cellsGlobin genesGlobin mRNAHuman γ-globin genesMouse alpha-globin mRNABeta-globin locus control regionAdult erythroid cellsANK-1 geneΓ-globin geneCopy number-dependent expressionLocus control regionErythroid-specific expressionAlpha-globin mRNAFetal erythroid cellsNumber-dependent expressionGlobin mRNA expressionErythrocyte membrane skeletonTransgene copy numberHS2 enhancerTransgenic linesGlobin transgenesControl regionTransgenic miceThe human ankyrin-1 gene is selectively transcribed in erythroid cell lines despite the presence of a housekeeping-like promoter.
Gallagher P, Romana M, Tse W, Lux S, Forget B. The human ankyrin-1 gene is selectively transcribed in erythroid cell lines despite the presence of a housekeeping-like promoter. Blood 2000, 96: 1136-43. PMID: 10910934, DOI: 10.1182/blood.v96.3.1136.015k48_1136_1143.Peer-Reviewed Original ResearchConceptsHuman ankyrin-1 geneGATA-1Ankyrin-1 geneErythroid promoterPromoter/reporter plasmidsMultiple transcription initiation sitesElectrophoretic mobility shift assaysHousekeeping gene promoterRegulation of genesCCAAT consensus sequencesTranscription initiation siteMobility shift assaysReporter gene expressionGATA-1 sitesErythroid cell linesAntibody supershift experimentsCell linesErythrocyte membrane proteinsTissue culture cell linesCACCC siteSp1 sitesMembrane proteinsPromoter sequencesAnkyrin geneHTF island