2008
Regulatory Polymorphisms and their Contribution to Interindividual Differences in the Expression of Enzymes Influencing Drug and Toxicant Disposition
Hines R, Koukouritaki S, Poch M, Stephens M. Regulatory Polymorphisms and their Contribution to Interindividual Differences in the Expression of Enzymes Influencing Drug and Toxicant Disposition. Drug Metabolism Reviews 2008, 40: 263-301. PMID: 18464046, DOI: 10.1080/03602530801952682.Peer-Reviewed Original ResearchConceptsRegulatory polymorphismsRegulatory sequencesHuman proteinsSelection pressureGene expressionCo-dominant traitEvolutionary perspectiveXenobiotic metabolismEnvironmental changesToxicant dispositionUnexpected paucityCurrent understandingHeterozygous stateTraitsPolymorphismSuch variationExpressionKnowledge gapsGenesProteinFitnessSequenceMetabolismVariationDrug disposition
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
1998
A Genetic Polymorphism in the Regulatory Sequences of HumanCYP2E1:Association with Increased Chlorzoxazone Hydroxylation in the Presence of Obesity and Ethanol Intake
McCarver D, Byun R, Hines R, Hichme M, Wegenek W. A Genetic Polymorphism in the Regulatory Sequences of HumanCYP2E1:Association with Increased Chlorzoxazone Hydroxylation in the Presence of Obesity and Ethanol Intake. Toxicology And Applied Pharmacology 1998, 152: 276-281. PMID: 9772223, DOI: 10.1006/taap.1998.8532.Peer-Reviewed Original ResearchConceptsMetabolic abilitiesDNA samplesHuman DNA samplesDNA insertionRegulatory sequencesRegulatory regionsXbaI fragmentGenomic probesRegulatory polymorphismsRestriction enzyme XbaIRestriction enzyme digestionSame DNA samplesInsertion mutationsUpstream regionRestriction enzymesSouthern blotFunctional significanceSouthern blottingMutationsEnzyme XbaIEnzyme digestionGenetic polymorphismsVivo CYP2E1 activity