2022
Modeling uniquely human gene regulatory function via targeted humanization of the mouse genome
Dutrow EV, Emera D, Yim K, Uebbing S, Kocher AA, Krenzer M, Nottoli T, Burkhardt DB, Krishnaswamy S, Louvi A, Noonan JP. Modeling uniquely human gene regulatory function via targeted humanization of the mouse genome. Nature Communications 2022, 13: 304. PMID: 35027568, PMCID: PMC8758698, DOI: 10.1038/s41467-021-27899-w.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBase SequenceCell DifferentiationChondrocytesChondrogenesisEmbryo, MammalianEnhancer Elements, GeneticEpigenesis, GeneticExtremitiesGene Expression ProfilingGene Expression RegulationGene Knock-In TechniquesGenomeHomeodomain ProteinsHomozygoteHumansMesodermMice, Inbred C57BLModels, GeneticPan troglodytesPromoter Regions, GeneticTime FactorsConceptsHuman Accelerated RegionsGene expressionHuman-specific sequence changesDevelopmental gene regulationSingle-cell RNA sequencingGene regulatory functionsHuman evolutionEndogenous gene expressionAlters gene expressionSkeletal patterningMolecular functionsGene regulationChondrogenic mesenchymeMouse genomeRegulatory modificationHomozygous embryosLimb developmentTranscriptional enhancersTranscription factorsRNA sequencingEnhancer activityMouse embryosRegulatory functionsAccelerated regionSequence changes
1999
AP-2αTranscription Factor Is Required for Early Morphogenesis of the Lens Vesicle
West-Mays J, Zhang J, Nottoli T, Hagopian-Donaldson S, Libby D, Strissel K, Williams T. AP-2αTranscription Factor Is Required for Early Morphogenesis of the Lens Vesicle. Developmental Biology 1999, 206: 46-62. PMID: 9918694, DOI: 10.1006/dbio.1998.9132.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, NewbornAquaporinsChimeraDNA-Binding ProteinsEyeEye ProteinsGene Expression Regulation, DevelopmentalHistocytochemistryHomeodomain ProteinsImmunohistochemistryLens, CrystallineMembrane GlycoproteinsMiceMice, KnockoutMorphogenesisPaired Box Transcription FactorsPAX6 Transcription FactorPhenotypeRepressor ProteinsTranscription Factor AP-2Transcription FactorsConceptsOcular defectsGanglion cell layerAP-2alphaRetinoic acid-responsive geneNeural retinaChimeric miceOcular tissuesOcular phenotypeDorsal retinalOptic cupCell layerLens vesicleAP-2 transcription factorsEyesEarly morphogenesisSurface ectodermLens developmentKnockout embryosCurrent studyAP-2 proteinsAcid-responsive genesExpression patternsPersistent adhesionTranscription factorsComplete lack