| http://purl.uniprot.org/citations/33660780 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33660780 | http://www.w3.org/2000/01/rdf-schema#comment | "Vertebrate genomes contain major (>99.5%) and minor (<0.5%) introns that are spliced by the major and minor spliceosomes, respectively. Major intron splicing follows the exon-definition model, whereby major spliceosome components first assemble across exons. However, since most genes with minor introns predominately consist of major introns, formation of exon-definition complexes in these genes would require interaction between the major and minor spliceosomes. Here, we report that minor spliceosome protein U11-59K binds to the major spliceosome U2AF complex, thereby supporting a model in which the minor spliceosome interacts with the major spliceosome across an exon to regulate the splicing of minor introns. Inhibition of minor spliceosome snRNAs and U11-59K disrupted exon-bridging interactions, leading to exon skipping by the major spliceosome. The resulting aberrant isoforms contained a premature stop codon, yet were not subjected to nonsense-mediated decay, but rather bound to polysomes. Importantly, we detected elevated levels of these alternatively spliced transcripts in individuals with minor spliceosome-related diseases such as Roifman syndrome, Lowry-Wood syndrome and early-onset cerebellar ataxia. In all, we report that the minor spliceosome informs splicing by the major spliceosome through exon-definition interactions and show that minor spliceosome inhibition results in aberrant alternative splicing in disease."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.org/dc/terms/identifier | "doi:10.1093/nar/gkab118"xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Campeau P.M."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Lee M.F."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Heath J.K."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Rousseau J."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "White A.K."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Roifman C.M."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Magnani C."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Chakroun A."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Doggett K."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Kanadia R.N."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Mieruszynski S."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Abdel Aleem A.K."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/author | "Olthof A.M."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/name | "Nucleic Acids Res"xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/pages | "3524-3545"xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/title | "Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns."xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://purl.uniprot.org/core/volume | "49"xsd:string |
| http://purl.uniprot.org/citations/33660780 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/33660780 |
| http://purl.uniprot.org/citations/33660780 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/33660780 |
| http://purl.uniprot.org/uniprot/#_A0A0R3P9C9-mappedCitation-33660780 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33660780 |
| http://purl.uniprot.org/uniprot/#_A0A0N4SUT0-mappedCitation-33660780 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33660780 |