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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\u2013Wood 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.<\/jats:p>","DOI":"10.1093\/nar\/gkab118","type":"journal-article","created":{"date-parts":[[2021,2,11]],"date-time":"2021-02-11T17:06:38Z","timestamp":1613063198000},"page":"3524-3545","source":"Crossref","is-referenced-by-count":36,"title":["Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns"],"prefix":"10.1093","volume":"49","author":[{"given":"Anouk M","family":"Olthof","sequence":"first","affiliation":[{"name":"Physiology and Neurobiology Department, University of Connecticut, 75 N. Eagleville Road, Storrs, CT 06269, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisa K","family":"White","sequence":"additional","affiliation":[{"name":"Physiology and Neurobiology Department, University of Connecticut, 75 N. Eagleville Road, Storrs, CT 06269, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Mieruszynski","sequence":"additional","affiliation":[{"name":"Epigenetics and Development Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Doggett","sequence":"additional","affiliation":[{"name":"Epigenetics and Development Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madisen\u00a0F","family":"Lee","sequence":"additional","affiliation":[{"name":"Physiology and Neurobiology Department, University of Connecticut, 75 N. Eagleville Road, Storrs, CT 06269, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almahdi","family":"Chakroun","sequence":"additional","affiliation":[{"name":"Neurogenetics, Weill Cornell Medicine\u2014Qatar, Doha, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice\u00a0K","family":"Abdel\u00a0Aleem","sequence":"additional","affiliation":[{"name":"Neurogenetics, Weill Cornell Medicine\u2014Qatar, Doha, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine","family":"Rousseau","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5,\u00a0Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cinzia","family":"Magnani","sequence":"additional","affiliation":[{"name":"Neonatology and Neonatal Intensive Care Unit, Maternal and Child Department, University of Parma, Parma, 43121, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaim\u00a0M","family":"Roifman","sequence":"additional","affiliation":[{"name":"Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON M5G 1X8,\u00a0Canada"},{"name":"The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON M5G\u00a01X8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9713-7107","authenticated-orcid":false,"given":"Philippe\u00a0M","family":"Campeau","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Montreal, Montreal, QC H4A 3J1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joan\u00a0K","family":"Heath","sequence":"additional","affiliation":[{"name":"Epigenetics and Development Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7197-912X","authenticated-orcid":false,"given":"Rahul\u00a0N","family":"Kanadia","sequence":"additional","affiliation":[{"name":"Physiology and Neurobiology Department, University of Connecticut, 75 N. 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