2007
Identification and Functional Analysis of a Novel Human CYP2E1 Far Upstream Enhancer
Shadley J, Divakaran K, Munson K, Hines R, Douglas K, McCarver D. Identification and Functional Analysis of a Novel Human CYP2E1 Far Upstream Enhancer. Molecular Pharmacology 2007, 71: 1630-1639. PMID: 17353354, DOI: 10.1124/mol.106.031302.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceBinding SitesCells, CulturedCytochrome P-450 CYP2E1Enhancer Elements, GeneticGATA4 Transcription FactorGene Expression Regulation, EnzymologicGenetic VariationHepatocytesHumansMolecular Sequence DataPromoter Regions, GeneticRepetitive Sequences, Nucleic AcidSteroidogenic Factor 1Trans-ActivatorsTranscriptional ActivationConceptsElectrophoretic mobility shift assaysEnhancer sequencesCompetitive electrophoretic mobility shift assaysSupershift electrophoretic mobility shift assaysFunctional regulatory elementsGATA family membersMobility shift assaysGreater luciferase activityOrphan nuclear receptorSteroidogenic factor 1Luciferase reporter activityGATA sequencesFetoprotein transcription factorGATA familyChromatin immunoprecipitationTranscription factorsNuclear proteinsRegulatory elementsShift assaysRegulatory mechanismsFunctional analysisPromoter constructsDirect repeatsReporter activityUpstream region
2006
Identification and functional analysis of Human FMO3 Genetic Variants
Hines R, Koukouritaki S, Poch M, Henderson M, Siddens L, Krueger S, VanDyke J, Romero A, Williams D. Identification and functional analysis of Human FMO3 Genetic Variants. The FASEB Journal 2006, 20: a264-a264. DOI: 10.1096/fasebj.20.4.a264-a.Peer-Reviewed Original ResearchPromoter activityFunctional analysisTransient expression analysisHaplotype AComplete lossHigher promoter activityNear complete lossTranscript splicingExpression analysisSynonymous SNPsReporter constructsIntron SNPSNP frequenciesStructural variantsObserved haplotypesMultiple substratesHaplotype DGenetic variantsExpression levelsSNPsEnzyme activityDNA samplesHaplotypesPromoter variantsVivo impact
2005
Discovery of Novel Flavin-Containing Monooxygenase 3 (FMO3) Single Nucleotide Polymorphisms and Functional Analysis of Upstream Haplotype Variants
Koukouritaki S, Poch M, Cabacungan E, McCarver D, Hines R. Discovery of Novel Flavin-Containing Monooxygenase 3 (FMO3) Single Nucleotide Polymorphisms and Functional Analysis of Upstream Haplotype Variants. Molecular Pharmacology 2005, 68: 383-392. PMID: 15858076, DOI: 10.1124/mol.105.012062.Peer-Reviewed Original ResearchConceptsFlavin-containing monooxygenasesFunctional analysisSingle nucleotide polymorphism (SNP) discoveryMembrane interaction domainHaplotype variantsSite-directed mutagenesisConsensus splice sitesFMO3 expressionUpstream SNPsGene functionPolymorphism discoveryNear complete lossRossmann foldFAD bindingInteraction domainSingle nucleotide polymorphismsRegion haplotypesHaplotype 8Exon SNPsFMO enzymesPromoter activityIntron SNPSequence analysisSNP frequenciesLuciferase constructHaplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics
Krueger S, Siddens L, Henderson M, Andreasen E, Tanguay R, Pereira C, Cabacungan E, Hines R, Ardlie K, Williams D. Haplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics. Pharmacogenetics And Genomics 2005, 15: 245-256. PMID: 15864117, PMCID: PMC1351039, DOI: 10.1097/01213011-200504000-00008.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAntithyroid AgentsDNA PrimersDNA, ComplementaryEthylenethioureaGenetic VectorsGenotypeHaplotypesHispanic or LatinoHomozygoteHumansMethimazoleMutagenesis, Site-DirectedMutationOxygenasesPharmacogeneticsPolymerase Chain ReactionPolymorphism, GeneticPolymorphism, Single NucleotidePolymorphism, Single-Stranded ConformationalTemperatureConceptsSingle nucleotide polymorphismsInactive proteinProtein variantsSingle-strand conformation polymorphismFunctional analysisActive proteinStrand conformation polymorphismNucleotide polymorphismsFunctional impactProteinAllelesHaplotype determinationConformation polymorphismMajor alleleHaplotypesPolymorphismFMO2Minor alleleFlavinVariants