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
1998
AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice
Nottoli T, Hagopian-Donaldson S, Zhang J, Perkins A, Williams T. AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice. Proceedings Of The National Academy Of Sciences Of The United States Of America 1998, 95: 13714-13719. PMID: 9811866, PMCID: PMC24885, DOI: 10.1073/pnas.95.23.13714.Peer-Reviewed Original ResearchConceptsAP-2Neural tubePleiotropic developmental abnormalitiesAP-2 geneCritical new roleLimb pattern formationRange of phenotypesBody wallLethal phenotypeKnockout miceMorphogenic pathwaysChimeric miceEye formationDevelopmental mechanismsHomozygous disruptionLimb duplicationsTeratogenic levelsDefective developmentDevelopmental abnormalitiesRetinoic acidPhenotypeMechanism of actionIndependent requirementsPattern formationChimeras