{"data":{"id":"10.6084/m9.figshare.c.2023037","type":"dois","attributes":{"doi":"10.6084/m9.figshare.c.2023037","prefix":"10.6084","suffix":"m9.figshare.c.2023037","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":"2015-12-05","dateType":"Created"},{"date":"2019-08-19","dateType":"Updated"},{"date":"2015","dateType":"Issued"}],"language":null,"types":{"ris":"GEN","bibtex":"misc","citeproc":"article","schemaOrg":"Collection","resourceType":"Collection","resourceTypeGeneral":"Collection"},"relatedIdentifiers":[],"relatedItems":[],"sizes":[],"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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