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We reveal links between splicing machinery components and the intrinsically disordered ciliopathy protein SANS. Pathogenic mutations in SANS\/USH1G lead to Usher syndrome\u2014the most common cause of deaf-blindness. Previously, SANS was shown to function only in the cytosol and primary cilia. Here, we have uncovered molecular links between SANS and pre-mRNA splicing catalyzed by the spliceosome in the nucleus. We show that SANS is found in Cajal bodies and nuclear speckles, where it interacts with components of spliceosomal sub-complexes such as SF3B1 and the large splicing cofactor SON but also with PRPFs and snRNAs related to the tri-snRNP complex. SANS is required for the transfer of tri-snRNPs between Cajal bodies and nuclear speckles for spliceosome assembly and may also participate in snRNP recycling back to Cajal bodies. SANS depletion alters the kinetics of spliceosome assembly, leading to accumulation of complex A. SANS deficiency and USH1G pathogenic mutations affects splicing of genes related to cell proliferation and human Usher syndrome. Thus, we provide the first evidence that splicing dysregulation may participate in the pathophysiology of Usher syndrome.<\/jats:p>","DOI":"10.1093\/nar\/gkab386","type":"journal-article","created":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T15:53:19Z","timestamp":1619625199000},"page":"5845-5866","source":"Crossref","is-referenced-by-count":28,"title":["SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes"],"prefix":"10.1093","volume":"49","author":[{"given":"Adem","family":"Yildirim","sequence":"first","affiliation":[{"name":"Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg-University of Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sina","family":"Mozaffari-Jovin","sequence":"additional","affiliation":[{"name":"Department of Cellular Biochemistry, Max-Planck-Institute for Biophysical Chemistry, Goettingen, Germany"},{"name":"Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran"},{"name":"Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran"},{"name":"Bioanalytical Mass Spectrometry, Max-Planck-Institute for Biophysical Chemistry, Goettingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann-Kathrin","family":"Wallisch","sequence":"additional","affiliation":[{"name":"Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg-University of Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Sch\u00e4fer","sequence":"additional","affiliation":[{"name":"Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg-University of Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian E J","family":"Ludwig","sequence":"additional","affiliation":[{"name":"Department of Cellular Biochemistry, Max-Planck-Institute for Biophysical Chemistry, Goettingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henning","family":"Urlaub","sequence":"additional","affiliation":[{"name":"Bioanalytical Mass Spectrometry, Max-Planck-Institute for Biophysical Chemistry, Goettingen, Germany"},{"name":"Bioanalytics, Department of Clinical Chemistry, University Medical Center Goettingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhard","family":"L\u00fchrmann","sequence":"additional","affiliation":[{"name":"Department of Cellular Biochemistry, Max-Planck-Institute for Biophysical Chemistry, Goettingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4756-5872","authenticated-orcid":false,"given":"Uwe","family":"Wolfrum","sequence":"additional","affiliation":[{"name":"Molecular Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg-University of Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,5,22]]},"reference":[{"key":"2021070812094991500_B1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.molcel.2014.10.030","article-title":"Functional splicing network reveals extensive regulatory potential of the core spliceosomal machinery","volume":"57","author":"Papasaikas","year":"2015","journal-title":"Mol. 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