2008
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region
Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL. Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. BMC Genomics 2008, 9: 50. PMID: 18226259, PMCID: PMC2268926, DOI: 10.1186/1471-2164-9-50.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingAngelman SyndromeAnimalsAutoantigensChromosome BreakageChromosome DeletionChromosomes, Human, Pair 15Conserved SequenceContig MappingCpG IslandsDNA MethylationElectrophoresis, Gel, Pulsed-FieldExonsGenomic ImprintingGenomicsHumansIntronsMiceOpen Reading FramesPrader-Willi SyndromeRNA, MessengerTranscription, GeneticWiskott-Aldrich Syndrome Protein FamilyConceptsLow-copy repeatsHuman genomeAllele-specific expression patternsProtein-coding genesHuman genome sequenceComplex chromosomal regionsCoiled-coil proteinsUCSC Genome BrowserCharacterization of transcriptsPolymorphic regionSequence-based physical mapProximal breakpoint regionCultured human cellsExtensive sequence analysisCopy number variationsGenomic orientationGene organizationNovel genesCentromeric deletion breakpointGenome sequenceSubfamily proteinsGenome browserGenomic analysisPhysical mapExact protein
1999
Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome
Tsai T, Jiang Y, Bressler J, Armstrong D, Beaudet A. Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome. Human Molecular Genetics 1999, 8: 1357-1364. PMID: 10400982, DOI: 10.1093/hmg/8.8.1357.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAnimalsAutoantigensBrainChromosome DeletionFemaleGene ExpressionGenomic ImprintingHumansLigasesMaleMiceMice, Inbred StrainsMuscle HypotoniaMutagenesis, Site-DirectedOpen Reading FramesPedigreePhenotypePrader-Willi SyndromeRibonucleoproteins, Small NuclearRNASnRNP Core ProteinsUbiquitin-Protein LigasesConceptsOpen reading framePartial lethalityExon 2Pathogenesis of PWSUpstream open reading framesObvious phenotypic abnormalitiesMouse chromosome 7CGenomic imprintsImprinted expressionPrader-Willi syndromeHuman translocationImprinted genesGene ContributingStructural genePaternal deficiencyChromosome 7CPaternal chromosomesGenotype/phenotype correlationHuman chromosomesMethylation patternsImprinting mutationsReading frameMultiple genesLoss of expressionSNRPN