2019
Genomic sites hypersensitive to ultraviolet radiation
Premi S, Han L, Mehta S, Knight J, Zhao D, Palmatier MA, Kornacker K, Brash DE. Genomic sites hypersensitive to ultraviolet radiation. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 24196-24205. PMID: 31723047, PMCID: PMC6883822, DOI: 10.1073/pnas.1907860116.Peer-Reviewed Original ResearchMeSH Keywords5' Untranslated RegionsCells, CulturedDNA DamageFibroblastsGene Expression RegulationGenome, HumanHigh-Throughput Nucleotide SequencingHumansMelanocytesMelanomaMutationPromoter Regions, GeneticProtein BiosynthesisPyrimidine DimersPyrimidine NucleotidesSkin NeoplasmsTOR Serine-Threonine KinasesUltraviolet RaysConceptsCyclobutane pyrimidine dimersETS family transcription factorsIndividual gene promotersFamily transcription factorsRNA-binding proteinPrimary human melanocytesSingle-base resolutionEpigenetic marksGenomic averageTranslation regulationGenomic sitesMotif locationsTranscription factorsCell physiologyGene promoterCancer driversGenomeHuman melanocytesCell typesTumor evolutionCell pathwaysRare mutationsUV targetPyrimidine dimersApurinic sites
2004
COMT haplotypes suggest P2 promoter region relevance for schizophrenia
Palmatier M, Pakstis A, Speed W, Paschou P, Goldman D, Odunsi A, Okonofua F, Kajuna S, Karoma N, Kungulilo S, Grigorenko E, Zhukova O, Bonne-Tamir B, Lu R, Parnas J, Kidd J, DeMille M, Kidd K. COMT haplotypes suggest P2 promoter region relevance for schizophrenia. Molecular Psychiatry 2004, 9: 859-870. PMID: 15098000, DOI: 10.1038/sj.mp.4001496.Peer-Reviewed Original Research
2002
Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation
DeMille M, Kidd JR, Ruggeri V, Palmatier MA, Goldman D, Odunsi A, Okonofua F, Grigorenko E, Schulz LO, Bonne-Tamir B, Lu RB, Parnas J, Pakstis AJ, Kidd KK. Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation. Human Genetics 2002, 111: 521-537. PMID: 12436243, DOI: 10.1007/s00439-002-0809-0.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceCatechol O-MethyltransferaseDNA PrimersGenetic VariationHaplotypesHumansLinkage DisequilibriumPromoter Regions, GeneticConceptsRestriction site polymorphismsSingle nucleotide polymorphismsLinkage disequilibriumNlaIII siteNon-African populationsOverall linkage disequilibriumAmino acid substitutionsRegulatory variationPopulation variationAllelic variationCandidate genesPromoter regionFunctional variationSite polymorphismCatechol-O-methyl transferaseAcid substitutionsFunctional variantsGenesNucleotide polymorphismsRegion variationNovel polymorphismsHaplotypesEnzyme activityMajor pathwayChromosome 22