The E6–AP Ubiquitin–Protein Ligase (UBE3A) Gene Is Localized within a Narrowed Angelman Syndrome Critical Region
Sutcliffe J, Jiang Y, Galjaard R, Matsuura T, Fang P, Kubota T, Christian S, Bressler J, Cattanach B, Ledbetter D, Beaudet A. The E6–AP Ubiquitin–Protein Ligase (UBE3A) Gene Is Localized within a Narrowed Angelman Syndrome Critical Region. Genome Research 1997, 7: 368-377. PMID: 9110176, PMCID: PMC139148, DOI: 10.1101/gr.7.4.368.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAngelman SyndromeAnimalsBlotting, NorthernBlotting, SouthernChromosome AberrationsChromosome MappingChromosomes, Artificial, YeastChromosomes, Human, Pair 15Cloning, MolecularCosmidsElectrophoresis, Gel, Pulsed-FieldFemaleGene DeletionGene DosageGene Expression Regulation, DevelopmentalGenetic MarkersGenomic ImprintingHumansIn Situ HybridizationLigasesMaleMiceMice, Mutant StrainsMolecular Sequence DataPaternityPrader-Willi SyndromeSequence Homology, Amino AcidSequence Homology, Nucleic AcidTissue DistributionTranscription, GeneticTranslocation, GeneticUbiquitin-Protein LigasesConceptsLigase geneUbiquitin protein ligase geneAngelman syndromeEntire transcriptional unitCandidate regionsMaternal-specific expressionE6-AP ubiquitinTranscriptional unitsPaternal deficiencyRT-PCR analysisMouse homologPrader-Willi syndromePaternal uniparental disomyPhysical mapDe novo truncating mutationsNovo truncating mutationsRecent identificationUBE3A locusMouse tissuesGenesUbe3a expressionLociUniparental disomyProtein levelsAS regionDe novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
Matsuura T, Sutcliffe J, Fang P, Galjaard R, Jiang Y, Benton C, Rommens J, Beaudet A. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genetics 1997, 15: 74-77. PMID: 8988172, DOI: 10.1038/ng0197-74.Peer-Reviewed Original ResearchConceptsGene productsAngelman syndromeNovo truncating mutationsUbiquitin protein ligase geneUbiquitin-dependent proteolytic pathwayE6-AP ubiquitin-protein ligaseHuman genetic disordersUbiquitin-protein ligaseUBE3A geneTruncating mutationsEvidence of expressionUnlikely candidate geneGenetic disordersLigase geneParental allelesAS genesHuman chromosomesPaternal uniparental disomyCandidate genesDe novo truncating mutationsProteolytic pathwayNovo nonsense mutationGenesIntragenic mutationsMolecular defects