{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T10:58:13Z","timestamp":1770980293456,"version":"3.50.1"},"reference-count":54,"publisher":"Portland Press Ltd.","issue":"4","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,8,1]]},"abstract":"<jats:p>The splicing of pre-mRNA by the spliceosome is a characteristic feature of eukaryotic cells, dependent on a group of snRNPs (small nuclear ribonucleoproteins). These splicing snRNPs have a complex assembly pathway involving multiple steps that take place in different regions of the cell, which is reflected in their complex subcellular distribution. Vital to the assembly of splicing snRNPs is the protein SMN (survival of motor neurons). In multicellular organisms, SMN acts in the cytoplasm, together with its associated protein complex to assemble a heptameric ring of proteins called the Sm proteins as an early stage in splicing snRNP assembly. A deficiency of the SMN protein results in the inherited neurodegenerative condition SMA (spinal muscular atrophy), a leading cause of infant mortality specifically affecting spinal motor neurons. It has long been a puzzle how lowered levels of a protein required for a process as fundamental as splicing snRNP assembly can result in a condition with such a definite cell-type-specificity. The present review highlights recent research that points to wider roles in RNA metabolism for both SMN itself and the Sm proteins with which it is linked.<\/jats:p>","DOI":"10.1042\/bst20120016","type":"journal-article","created":{"date-parts":[[2013,7,18]],"date-time":"2013-07-18T12:50:01Z","timestamp":1374151801000},"page":"871-875","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Small nuclear RNAs and mRNAs: linking RNA processing and transport to spinal muscular atrophy"],"prefix":"10.1042","volume":"41","author":[{"given":"Judith","family":"Sleeman","sequence":"first","affiliation":[{"name":"School of Biology, University of St Andrews, BMS Building, North Haugh, St Andrews, Fife KY16 9ST, U.K."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","published-online":{"date-parts":[[2013,7,18]]},"reference":[{"key":"2021111818024656400_B1","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/S0092-8674(00)80550-4","article-title":"Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs","volume":"96","author":"Kambach","year":"1999","journal-title":"Cell"},{"key":"2021111818024656400_B2","doi-asserted-by":"crossref","first-page":"4321","DOI":"10.1093\/emboj\/18.15.4321","article-title":"Characterization of Sm-like proteins in yeast and their association with U6 snRNA","volume":"18","author":"Mayes","year":"1999","journal-title":"EMBO J."},{"key":"2021111818024656400_B3","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/BF00356867","article-title":"Structure and expression of U-snRNA genes","volume":"12","author":"Dahlberg","year":"1987","journal-title":"Mol. Biol. Rep."},{"key":"2021111818024656400_B4","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1002\/wrna.87","article-title":"Biogenesis of spliceosomal small nuclear ribonucleoproteins","volume":"2","author":"Fischer","year":"2011","journal-title":"Wiley Interdiscip. Rev.: RNA"},{"key":"2021111818024656400_B5","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1101\/sqb.2006.71.001","article-title":"The SMN complex: an assembly machine for RNPs","volume":"71","author":"Battle","year":"2006","journal-title":"Cold Spring Harbor Symp. Quant. Biol."},{"key":"2021111818024656400_B6","doi-asserted-by":"crossref","first-page":"3555","DOI":"10.1002\/j.1460-2075.1996.tb00725.x","article-title":"A novel nuclear structure containing the survival of motor neurons protein","volume":"15","author":"Liu","year":"1996","journal-title":"EMBO J."},{"key":"2021111818024656400_B7","doi-asserted-by":"crossref","first-page":"a000646","DOI":"10.1101\/cshperspect.a000646","article-title":"Nuclear speckles","volume":"3","author":"Spector","year":"2011","journal-title":"Cold Spring Harbor Perspect. Biol."},{"key":"2021111818024656400_B8","doi-asserted-by":"crossref","first-page":"2746","DOI":"10.1093\/emboj\/21.11.2746","article-title":"Cajal body-specific small nuclear RNAs: a novel class of 2\u2032-O-methylation and pseudouridylation guide RNAs","volume":"21","author":"Darzacq","year":"2002","journal-title":"EMBO J."},{"key":"2021111818024656400_B9","doi-asserted-by":"crossref","first-page":"1878","DOI":"10.1093\/emboj\/cdg187","article-title":"Modification of Sm small nuclear RNAs occurs in the nucleoplasmic Cajal body following import from the cytoplasm","volume":"22","author":"Jady","year":"2003","journal-title":"EMBO J."},{"key":"2021111818024656400_B10","doi-asserted-by":"crossref","first-page":"4006","DOI":"10.1093\/nar\/29.19.4006","article-title":"A computational scan for U12-dependent introns in the human genome sequence","volume":"29","author":"Levine","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"2021111818024656400_B11","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/S0955-0674(00)00211-8","article-title":"Spliceosomal UsnRNP biogenesis, structure and function","volume":"13","author":"Will","year":"2001","journal-title":"Curr. Opin. Cell Biol."},{"key":"2021111818024656400_B12","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"2021111818024656400_B13","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat. Genet."},{"key":"2021111818024656400_B14","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1016\/S0092-8674(00)80368-2","article-title":"The SMN\u2013SIP1 complex has an essential role in spliceosomal snRNP biogenesis","volume":"90","author":"Fischer","year":"1997","journal-title":"Cell"},{"key":"2021111818024656400_B15","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1016\/S0092-8674(00)80367-0","article-title":"The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins","volume":"90","author":"Liu","year":"1997","journal-title":"Cell"},{"key":"2021111818024656400_B16","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.molmed.2012.11.002","article-title":"Spinal muscular atrophy: going beyond the motor neuron","volume":"19","author":"Hamilton","year":"2013","journal-title":"Trends Mol. Med."},{"key":"2021111818024656400_B17","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1073\/pnas.90.5.1947","article-title":"Immunocytochemical analysis of the coiled body in the cell cycle and during cell proliferation","volume":"90","author":"Andrade","year":"1993","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2021111818024656400_B18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1083\/jcb.117.1.1","article-title":"Transcription-dependent colocalization of the U1, U2, U4\/U6, and U5 snRNPs in coiled bodies","volume":"117","author":"Carmo-Fonseca","year":"1992","journal-title":"J. Cell Biol."},{"key":"2021111818024656400_B19","doi-asserted-by":"crossref","first-page":"e921","DOI":"10.1371\/journal.pone.0000921","article-title":"Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs","volume":"2","author":"Gabanella","year":"2007","journal-title":"PLoS ONE"},{"key":"2021111818024656400_B20","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.cell.2008.03.031","article-title":"SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing","volume":"133","author":"Zhang","year":"2008","journal-title":"Cell"},{"key":"2021111818024656400_B21","doi-asserted-by":"crossref","first-page":"e1000773","DOI":"10.1371\/journal.pgen.1000773","article-title":"Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy","volume":"5","author":"Baumer","year":"2009","journal-title":"PLoS Genet."},{"key":"2021111818024656400_B22","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1093\/hmg\/ddq508","article-title":"Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type\u00a0I SMA patient","volume":"20","author":"Boulisfane","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"2021111818024656400_B23","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1038\/emboj.2010.70","article-title":"Specific splicing defects in S. pombe carrying a degron allele of the survival of motor neuron gene","volume":"29","author":"Campion","year":"2010","journal-title":"EMBO J."},{"key":"2021111818024656400_B24","first-page":"2626","article-title":"Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy","volume":"125","author":"Clelland","year":"2012","journal-title":"J. Cell Sci."},{"key":"2021111818024656400_B25","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.cell.2012.09.011","article-title":"SMN is required for sensory\u2013motor circuit function in Drosophila","volume":"151","author":"Imlach","year":"2012","journal-title":"Cell"},{"key":"2021111818024656400_B26","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.cell.2012.09.012","article-title":"An SMN-dependent U12 splicing event essential for motor circuit function","volume":"151","author":"Lotti","year":"2012","journal-title":"Cell"},{"key":"2021111818024656400_B27","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1111\/j.1600-0854.2010.01118.x","article-title":"Subcellular communication through RNA transport and localized protein synthesis","volume":"11","author":"Donnelly","year":"2010","journal-title":"Traffic"},{"key":"2021111818024656400_B28","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/j.gde.2011.04.002","article-title":"Making and breaking synapses through local mRNA regulation","volume":"21","author":"Swanger","year":"2011","journal-title":"Curr. Opin. Genet. Dev."},{"key":"2021111818024656400_B29","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1093\/hmg\/10.5.497","article-title":"Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy","volume":"10","author":"Jablonka","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"2021111818024656400_B30","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1093\/hmg\/9.3.341","article-title":"Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type\u00a0III","volume":"9","author":"Jablonka","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"2021111818024656400_B31","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1093\/hmg\/11.14.1605","article-title":"Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development","volume":"11","author":"Fan","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"2021111818024656400_B32","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1083\/jcb.200304128","article-title":"Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of \u03b2-actin mRNA in growth cones of motoneurons","volume":"163","author":"Rossoll","year":"2003","journal-title":"J. Cell Biol."},{"key":"2021111818024656400_B33","doi-asserted-by":"crossref","first-page":"10337","DOI":"10.1073\/pnas.1104928108","article-title":"Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits","volume":"108","author":"Akten","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2021111818024656400_B34","doi-asserted-by":"crossref","first-page":"3914","DOI":"10.1523\/JNEUROSCI.3631-10.2011","article-title":"The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons","volume":"31","author":"Fallini","year":"2011","journal-title":"J. Neurosci."},{"key":"2021111818024656400_B35","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1093\/hmg\/ddq500","article-title":"HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects","volume":"20","author":"Hubers","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"2021111818024656400_B36","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1093\/hmg\/ddr046","article-title":"The COPI vesicle complex binds and moves with survival motor neuron within axons","volume":"20","author":"Peter","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"2021111818024656400_B37","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1016\/j.jmb.2010.06.058","article-title":"SMN, Gemin2 and Gemin3 associate with \u03b2-actin mRNA in the cytoplasm of neuronal cells in\u00a0vitro","volume":"401","author":"Todd","year":"2010","journal-title":"J. Mol. Biol."},{"key":"2021111818024656400_B38","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/j.bbrc.2010.05.139","article-title":"Analysis of SMN-neurite granules: core Cajal body components are absent from SMN\u2013cytoplasmic complexes","volume":"397","author":"Todd","year":"2010","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2021111818024656400_B39","doi-asserted-by":"crossref","first-page":"8622","DOI":"10.1523\/JNEUROSCI.3967-05.2006","article-title":"Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons","volume":"26","author":"Zhang","year":"2006","journal-title":"J. Neurosci."},{"key":"2021111818024656400_B40","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1750-1326-5-17","article-title":"High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function","volume":"5","author":"Fallini","year":"2010","journal-title":"Mol. Neurodegener."},{"key":"2021111818024656400_B41","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.yexcr.2005.05.014","article-title":"A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells","volume":"309","author":"Sharma","year":"2005","journal-title":"Exp. Cell Res."},{"key":"2021111818024656400_B42","doi-asserted-by":"crossref","first-page":"e51826","DOI":"10.1371\/journal.pone.0051826","article-title":"The spinal muscular atrophy disease protein SMN is linked to the Golgi network","volume":"7","author":"Ting","year":"2012","journal-title":"PLoS ONE"},{"key":"2021111818024656400_B43","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.brainres.2012.01.044","article-title":"Spinal muscular atrophy: the role of SMN in axonal mRNA regulation","volume":"1462","author":"Fallini","year":"2012","journal-title":"Brain Res."},{"key":"2021111818024656400_B44","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.neuron.2004.07.022","article-title":"Kinesin transports RNA: isolation and characterization of an RNA-transporting granule","volume":"43","author":"Kanai","year":"2004","journal-title":"Neuron"},{"key":"2021111818024656400_B45","doi-asserted-by":"crossref","first-page":"5598","DOI":"10.1074\/jbc.M707304200","article-title":"In\u00a0vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein","volume":"283","author":"Piazzon","year":"2008","journal-title":"J. Biol. Chem."},{"key":"2021111818024656400_B46","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1093\/hmg\/11.1.93","article-title":"Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp\/hnRNP-Q: a role for Smn in RNA processing in motor axons?","volume":"11","author":"Rossoll","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"2021111818024656400_B47","doi-asserted-by":"crossref","first-page":"5470","DOI":"10.1093\/emboj\/20.19.5470","article-title":"Purified U7 snRNPs lack the Sm proteins D1 and D2 but contain Lsm10, a new 14\u00a0kDa Sm D1-like protein","volume":"20","author":"Pillai","year":"2001","journal-title":"EMBO J."},{"key":"2021111818024656400_B48","doi-asserted-by":"crossref","first-page":"2560","DOI":"10.1007\/s00018-004-4190-0","article-title":"The special Sm core structure of the U7 snRNP: far-reaching significance of a small nuclear ribonucleoprotein","volume":"61","author":"Schumperli","year":"2004","journal-title":"Cell. Mol. Life Sci."},{"key":"2021111818024656400_B49","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1101\/gad.274403","article-title":"Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing","volume":"17","author":"Pillai","year":"2003","journal-title":"Genes Dev."},{"key":"2021111818024656400_B50","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1111\/j.1365-2958.2003.03935.x","article-title":"The bacterial Sm-like protein Hfq: a key player in RNA transactions","volume":"51","author":"Valentin-Hansen","year":"2004","journal-title":"Mol. Microbiol."},{"key":"2021111818024656400_B51","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1083\/jcb.200309008","article-title":"Cytoplasmic foci are sites of mRNA decay in human cells","volume":"165","author":"Cougot","year":"2004","journal-title":"J. Cell Biol."},{"key":"2021111818024656400_B52","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1017\/S1355838202021726","article-title":"The human LSm1\u20137 proteins colocalize with the mRNA-degrading enzymes Dcp1\/2 and Xrnl in distinct cytoplasmic foci","volume":"8","author":"Ingelfinger","year":"2002","journal-title":"RNA"},{"key":"2021111818024656400_B53","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1083\/jcb.200807033","article-title":"Dendritic LSm1\/CBP80-mRNPs mark the early steps of transport commitment and translational control","volume":"184","author":"di Penta","year":"2009","journal-title":"J. Cell Biol."},{"key":"2021111818024656400_B54","doi-asserted-by":"crossref","first-page":"2341","DOI":"10.1242\/dev.042721","article-title":"Sm proteins specify germ cell fate by facilitating oskar mRNA localization","volume":"137","author":"Gonsalvez","year":"2010","journal-title":"Development"}],"container-title":["Biochemical Society Transactions"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/portlandpress.com\/biochemsoctrans\/article-pdf\/41\/4\/871\/724205\/bst0410871.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/portlandpress.com\/biochemsoctrans\/article-pdf\/41\/4\/871\/724205\/bst0410871.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,3]],"date-time":"2023-07-03T08:30:04Z","timestamp":1688373004000},"score":1,"resource":{"primary":{"URL":"https:\/\/portlandpress.com\/biochemsoctrans\/article\/41\/4\/871\/67050\/Small-nuclear-RNAs-and-mRNAs-linking-RNA"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7,18]]},"references-count":54,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2013,7,18]]},"published-print":{"date-parts":[[2013,8,1]]}},"URL":"https:\/\/doi.org\/10.1042\/bst20120016","relation":{},"ISSN":["0300-5127","1470-8752"],"issn-type":[{"value":"0300-5127","type":"print"},{"value":"1470-8752","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,7,18]]}}}