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 cellsGenes
2006
Lentivirus Vectors Containing a Band 3/γ-Globin Gene Flanked by Distinct Insulator Elements Are Resistant to Gene Silencing in Primary Mouse Erythroid Cells.
Harrow F, Frazar T, Seidel N, Gallagher P, Bodine D. Lentivirus Vectors Containing a Band 3/γ-Globin Gene Flanked by Distinct Insulator Elements Are Resistant to Gene Silencing in Primary Mouse Erythroid Cells. Blood 2006, 108: 3260. DOI: 10.1182/blood.v108.11.3260.3260.Peer-Reviewed Original ResearchΓ-globin geneLocus control regionInsulator elementsΓ-globinΓ-globin mRNAB3 promoterStart siteΓ-globin gene expressionMouse hematopoietic progenitor cellsLike globin genesAbundant membrane proteinErythroid-specific expressionTranscription start siteΓ-globin expressionMouse erythroid cellsCorrect start sitesHigh-throughput real-time PCRHypersensitive site 4Transgenic miceΒ-globin geneMultiple upstream sitesInsulator activityGlobin genesHematopoietic stem cellsMembrane proteins
2005
Genetic Evidence That an 11 Amino Acid β-Hairpin Loop in the Cytoplasmic Domain of Band 3 Is Responsible for at Least 50% of Ankyrin Binding in Mouse Erythrocytes.
Markham N, Parry E, Stefanovic M, Gallagher P, Low P, Bodine D. Genetic Evidence That an 11 Amino Acid β-Hairpin Loop in the Cytoplasmic Domain of Band 3 Is Responsible for at Least 50% of Ankyrin Binding in Mouse Erythrocytes. Blood 2005, 106: 1659. DOI: 10.1182/blood.v106.11.1659.1659.Peer-Reviewed Original ResearchΒ-hairpin loopCytoplasmic domainWild typeHuman band 3Neomycin resistance geneMembrane proteinsBand 3Mutant allelesBand 3 cytoplasmic domainResistance genesLevels of mRNARed cell membrane proteinsIntegral erythrocyte membrane proteinsSpectrin-actin cytoskeletonCre recombinase proteinDomain 3Embryonic stem cellsQuantitative RT-PCR analysisCell membrane proteinsNormal Mendelian ratioBand 3 mRNATransgenic miceAnion exchange proteinMutant erythrocytesBand 3 gene
2003
Variegated Expression from the Murine Band 3 (AE1) Promoter in Transgenic Mice Is Associated with mRNA Transcript Initiation at Upstream Start Sites and Can Be Suppressed by the Addition of the Chicken β-Globin 5′ HS4 Insulator Element
Frazar TF, Weisbein JL, Anderson SM, Cline AP, Garrett LJ, Felsenfeld G, Gallagher PG, Bodine DM. Variegated Expression from the Murine Band 3 (AE1) Promoter in Transgenic Mice Is Associated with mRNA Transcript Initiation at Upstream Start Sites and Can Be Suppressed by the Addition of the Chicken β-Globin 5′ HS4 Insulator Element. Molecular And Cellular Biology 2003, 23: 4753-4763. PMID: 12832463, PMCID: PMC162203, DOI: 10.1128/mcb.23.14.4753-4763.2003.Peer-Reviewed Original ResearchConceptsStart siteGamma-globin mRNAUpstream start siteVariegated expressionInsulator elementsHuman gamma-globin geneGamma-globin proteinPosition-effect variegationGamma-globin geneErythroid-specific expressionHS4 insulator elementsBeta-globin clusterHigh steady-state levelsTransgenic mouse assaysErythrocyte membrane skeletonTransgenic miceTransgene copy numberTranscript initiationCytoplasmic domainTransmembrane proteinSteady-state levelsRNA transcriptionMembrane skeletonGene promoterBeta spectrin
2000
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*
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 mice
1998
Substitution of the Human β-Spectrin Promoter for the Human Aγ-Globin Promoter Prevents Silencing of a Linked Human β-Globin Gene in Transgenic Mice
Sabatino D, Cline A, Gallagher P, Garrett L, Stamatoyannopoulos G, Forget B, Bodine D. Substitution of the Human β-Spectrin Promoter for the Human Aγ-Globin Promoter Prevents Silencing of a Linked Human β-Globin Gene in Transgenic Mice. Molecular And Cellular Biology 1998, 18: 6634-6640. PMID: 9774678, PMCID: PMC109248, DOI: 10.1128/mcb.18.11.6634.Peer-Reviewed Original Research