2007
Novel Hispanic American CYP2C9 Genetic Variants and Assessment of Their Impact on Gene Expression
Kramer M, Rettie A, Rieder M, Hines R. Novel Hispanic American CYP2C9 Genetic Variants and Assessment of Their Impact on Gene Expression. The FASEB Journal 2007, 21: a415-a415. DOI: 10.1096/fasebj.21.5.a415.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsPromoter activityGenetic variantsSite-directed mutagenesisConstitutive promoter activityInducible promoter activityDNA samplesMultiplex single-base extensionInduced promoter activityLuciferase reporter plasmidRegulatory sequencesTransient expressionRegulatory polymorphismsGene expressionSNP frequenciesFrequency of variantsReporter plasmidDNA sequencingSingle base extensionHaplotype variantsNucleotide polymorphismsReference haplotypesHepG2 cellsDiscovery resourcesDifferent populations
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 construct