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
2000
The 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 islandThe 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: 1136-1143. DOI: 10.1182/blood.v96.3.1136.Peer-Reviewed Original ResearchHuman 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 sitesFlanking genomic DNAErythroid cell linesAntibody supershift experimentsCell linesErythrocyte membrane proteinsTissue culture cell linesCACCC siteSp1 sitesMembrane proteinsPromoter sequencesAnkyrin gene
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