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
2010
Genomics of Long-Range Regulatory Elements
Noonan JP, McCallion AS. Genomics of Long-Range Regulatory Elements. Annual Review Of Genomics And Human Genetics 2010, 11: 1-23. PMID: 20438361, DOI: 10.1146/annurev-genom-082509-141651.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsGene Expression RegulationGenome, HumanGenomicsHumansRegulatory Sequences, Nucleic AcidTranscription, GeneticVertebratesConceptsRegulatory elementsGene expressionLong-range regulatory elementsCis-acting elementsHuman cell typesVertebrate genomesModel organismsSequence conservationTranscriptional regulationHuman genomeGenomic distanceRegulatory sequencesTransgenic technologyRegulatory potentialBiological functionsRegulatory functionsGenomeBiological significanceCell typesLarge-scale effortsRegulatory controlExpressionCommon setGenomicsGenes