{"data":{"id":"10.6084/m9.figshare.1263573.v1","type":"dois","attributes":{"doi":"10.6084/m9.figshare.1263573.v1","prefix":"10.6084","suffix":"m9.figshare.1263573.v1","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":2014,"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":"2014-09-02","dateType":"Created"},{"date":"2023-06-20","dateType":"Updated"},{"date":"2014","dateType":"Issued"}],"language":null,"types":{"ris":"DATA","bibtex":"misc","citeproc":"dataset","schemaOrg":"Dataset","resourceType":"Dataset","resourceTypeGeneral":"Dataset"},"relatedIdentifiers":[{"relationType":"IsPreviousVersionOf","relatedIdentifier":"10.6084/m9.figshare.1263573","relatedIdentifierType":"DOI"},{"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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