2021
A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR
Xu M, Mehl L, Zhang T, Thakur R, Sowards H, Myers T, Jessop L, Chesi A, Johnson M, Wells A, Michael H, Bunda P, Jones K, Higson H, Hennessey R, Jermusyk A, Kovacs M, Landi M, Iles M, Goldstein A, Consortium M, Choi J, Chanock S, Grant S, Chari R, Merlino G, Law M, Brown K. A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR. American Journal Of Human Genetics 2021, 108: 1611-1630. PMID: 34343493, PMCID: PMC8456165, DOI: 10.1016/j.ajhg.2021.07.002.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBasic Helix-Loop-Helix Transcription FactorsCarcinogenesisCarcinoma, Squamous CellChromatinChromosomes, Human, Pair 7Gene Expression RegulationGenetic LociGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyHumansMelanocytesMelanomaPolychlorinated DibenzodioxinsPolymorphism, Single NucleotidePrimary Cell CulturePromoter Regions, GeneticReceptors, Aryl HydrocarbonSkin NeoplasmsSunbathingUltraviolet RaysConceptsGenome-wide association studiesAryl hydrocarbon receptorMelanoma genome‐wide association studiesCellular responsesFunctional variantsLikely causal genesChromatin state annotationCandidate causal variantsHydrocarbon receptorMelanoma susceptibility genesGrowth phenotypeAhR expressionCausal genesPrimary melanocytesCausal variantsLead SNPRisk lociAhR bindingAssociation studiesGrowth arrestLuciferase assaySusceptibility genesCell growthKey environmental exposuresLoci
2018
Partial Rescue of Ocular Pigment Cells and Structure by Inducible Ectopic Expression of Mitf-M in MITF-Deficient Mice
Michael HT, Graff-Cherry C, Chin S, Rauck C, Habtemichael AD, Bunda P, Smith T, Campos MM, Bharti K, Arnheiter H, Merlino G, Day CP. Partial Rescue of Ocular Pigment Cells and Structure by Inducible Ectopic Expression of Mitf-M in MITF-Deficient Mice. Investigative Ophthalmology & Visual Science 2018, 59: 6067-6073. PMID: 30590377, PMCID: PMC6314104, DOI: 10.1167/iovs.18-25186.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBlotting, WesternChoroidEctopic Gene ExpressionEmbryonic DevelopmentFemaleGene Expression ProfilingGene Expression Regulation, DevelopmentalGenotyping TechniquesImmunohistochemistryIntramolecular OxidoreductasesIrisMaleMelanocytesMiceMice, Inbred C57BLMice, TransgenicMicrophthalmia-Associated Transcription FactorMicrophthalmosRetinal Pigment EpitheliumReverse Transcriptase Polymerase Chain ReactionSkinConceptsMicrophthalmia transcription factorMITF-M expressionEctopic expressionEpithelium gene expressionRetinal dysplasiaNew mouse lineMouse eyeRetinal structureCutaneous melanocytesRPE structureUveal melanocytesRPE functionMiceMouse linesComplete deficiencyPigmentary genesInducible ectopic expressionMelanocytesMITF isoformsIris melanocytesMicrophthalmiaPhenotypic abnormalitiesEyesMITFPartial rescue