{"data":{"id":"10.6084/m9.figshare.1263573","type":"dois","attributes":{"doi":"10.6084/m9.figshare.1263573","prefix":"10.6084","suffix":"m9.figshare.1263573","identifiers":[],"alternateIdentifiers":[],"creators":[{"name":"Gao, Xiaoyang","givenName":"Xiaoyang","familyName":"Gao","affiliation":[],"nameIdentifiers":[]},{"name":"Teng, Yanling","givenName":"Yanling","familyName":"Teng","affiliation":[],"nameIdentifiers":[]},{"name":"Luo, Jintao","givenName":"Jintao","familyName":"Luo","affiliation":[],"nameIdentifiers":[]},{"name":"Huang, Liange","givenName":"Liange","familyName":"Huang","affiliation":[],"nameIdentifiers":[]},{"name":"Li, Min","givenName":"Min","familyName":"Li","affiliation":[],"nameIdentifiers":[]},{"name":"Zhang, Zhuohua","givenName":"Zhuohua","familyName":"Zhang","affiliation":[],"nameIdentifiers":[]},{"name":"Ma, Yong-Chao","givenName":"Yong-Chao","familyName":"Ma","affiliation":[],"nameIdentifiers":[]},{"name":"Ma, Long","givenName":"Long","familyName":"Ma","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"The survival motor neuron gene \u003ci\u003esmn-1\u003c/i\u003e interacts with the U2AF large subunit gene \u003ci\u003euaf-1\u003c/i\u003e to regulate \u003ci\u003eCaenorhabditis elegans\u003c/i\u003e lifespan and motor functions"}],"publisher":"Taylor \u0026 Francis","container":{},"publicationYear":2015,"subjects":[{"subject":"Infectious Diseases"},{"subject":"FOS: Health sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Biological Sciences"},{"subject":"Pharmacology"},{"subject":"Neuroscience"},{"subject":"Molecular Biology"},{"subject":"Genetics"},{"subject":"FOS: Biological sciences","schemeUri":"http://www.oecd.org/science/inno/38235147.pdf","subjectScheme":"Fields of Science and Technology (FOS)"},{"subject":"Cell Biology"}],"contributors":[],"dates":[{"date":"2015-10-23","dateType":"Created"},{"date":"2023-06-04","dateType":"Updated"},{"date":"2015","dateType":"Issued"}],"language":null,"types":{"ris":"DATA","bibtex":"misc","citeproc":"dataset","schemaOrg":"Dataset","resourceType":"Dataset","resourceTypeGeneral":"Dataset"},"relatedIdentifiers":[{"relationType":"IsSupplementTo","relatedIdentifier":"10.4161/rna.36100","relatedIdentifierType":"DOI"}],"relatedItems":[],"sizes":["47899019 Bytes"],"formats":[],"version":null,"rightsList":[{"rights":"Creative Commons Attribution 4.0 International","rightsUri":"https://creativecommons.org/licenses/by/4.0/legalcode","schemeUri":"https://spdx.org/licenses/","rightsIdentifier":"cc-by-4.0","rightsIdentifierScheme":"SPDX"}],"descriptions":[{"description":"Spinal muscular atrophy (SMA), the most frequent human congenital motor neuron degenerative disease, is caused by loss-of-function mutations in the highly conserved survival motor neuron gene \u003ci\u003eSMN1\u003c/i\u003e. Mutations in \u003ci\u003eSMN\u003c/i\u003e could affect several molecular processes, among which aberrant pre-mRNA splicing caused by defective snRNP biogenesis is hypothesized as a major cause of SMA. To date little is known about the interactions of \u003ci\u003eSMN\u003c/i\u003e with other splicing factor genes and how SMN affects splicing \u003ci\u003ein vivo\u003c/i\u003e. The nematode \u003ci\u003eCaenorhabditis elegans\u003c/i\u003e carries a single ortholog of \u003ci\u003eSMN\u003c/i\u003e, \u003ci\u003esmn-1\u003c/i\u003e, and has been used as a model for studying the molecular functions of SMN. We analyzed RNA splicing of reporter genes in an \u003ci\u003esmn-1\u003c/i\u003e deletion mutant and found that \u003ci\u003esmn-1\u003c/i\u003e is required for efficient splicing at weak 3′ splice sites. Genetic studies indicate that the defective lifespan and motor functions of the \u003ci\u003esmn-1\u003c/i\u003e deletion mutants could be significantly improved by mutations of the splicing factor U2AF large subunit gene \u003ci\u003euaf-1\u003c/i\u003e. In \u003ci\u003esmn-1\u003c/i\u003e mutants we detected a reduced expression of U1 and U5 snRNAs and an increased expression of U2, U4 and U6 snRNAs. Our study verifies an essential role of \u003ci\u003esmn-1\u003c/i\u003e for RNA splicing \u003ci\u003ein vivo\u003c/i\u003e, identifies the \u003ci\u003euaf-1\u003c/i\u003e gene as a potential genetic modifier of \u003ci\u003esmn-1\u003c/i\u003e mutants, and suggests that SMN-1 has multifaceted effects on the expression of spliceosomal snRNAs.","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[],"xml":"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