Smn

Summary

Gene Symbol: Smn
Description: survival motor neuron
Alias: CG16725, DmSMN, Dmel\CG16725, SMN, dSMN, l(3)73Ao, smn, survival motor neuron, CG16725-PA, CG16725-PB, Smn-PA, Smn-PB, survival of motor neurons
Species: fruit fly

Top Publications

  1. Chan Y, Miguel Aliaga I, Franks C, Thomas N, TrĆ¼lzsch B, Sattelle D, et al. Neuromuscular defects in a Drosophila survival motor neuron gene mutant. Hum Mol Genet. 2003;12:1367-76 pubmed
    Autosomal recessive spinal muscular atrophy (SMA) is linked to mutations in the survival motor neuron (SMN) gene. The SMN protein has been implicated at several levels of mRNA biogenesis and is expressed ubiquitously...
  2. Liu J, Murphy C, Buszczak M, Clatterbuck S, Goodman R, Gall J. The Drosophila melanogaster Cajal body. J Cell Biol. 2006;172:875-84 pubmed
    ..U85 small CB-specific RNA, U2 small nuclear RNA, the survival of motor neurons protein, and fibrillarin occur together in a nuclear body that is closely associated with the nucleolus...
  3. Praveen K, Wen Y, Matera A. A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects. Cell Rep. 2012;1:624-31 pubmed publisher
    The spinal muscular atrophy (SMA) protein, survival motor neuron (SMN), functions in the biogenesis of small nuclear ribonucleoproteins (snRNPs)...
  4. Cauchi R, Sanchez Pulido L, Liu J. Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies. Exp Cell Res. 2010;316:2354-64 pubmed publisher
    ..The assembly of most U snRNPs takes place in the cytoplasm and is facilitated by the survival motor neuron (SMN) complex...
  5. Cauchi R. Gem formation upon constitutive Gemin3 overexpression in Drosophila. Cell Biol Int. 2011;35:1233-8 pubmed publisher
    Gems or 'Gemini of Cajal bodies' are spherical nuclear aggregates of SMN (survival of motor neurons) complexes that frequently overlap Cajal bodies...
  6. Sen A, Dimlich D, Guruharsha K, Kankel M, Hori K, Yokokura T, et al. Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy. Proc Natl Acad Sci U S A. 2013;110:E2371-80 pubmed publisher
    ..of the neurodegenerative disorder spinal muscular atrophy (SMA) is dependent on the levels of functional Survival Motor Neuron (SMN) protein...
  7. Imlach W, Beck E, Choi B, Lotti F, Pellizzoni L, McCabe B. SMN is required for sensory-motor circuit function in Drosophila. Cell. 2012;151:427-39 pubmed publisher
    ..characterized by motor neuron dysfunction and muscle deterioration due to depletion of the ubiquitous survival motor neuron (SMN) protein...
  8. Grice S, Liu J. Survival motor neuron protein regulates stem cell division, proliferation, and differentiation in Drosophila. PLoS Genet. 2011;7:e1002030 pubmed publisher
    Spinal muscular atrophy is a severe neurogenic disease that is caused by mutations in the human survival motor neuron 1 (SMN1) gene...
  9. Lee L, Davies S, Liu J. The spinal muscular atrophy protein SMN affects Drosophila germline nuclear organization through the U body-P body pathway. Dev Biol. 2009;332:142-55 pubmed publisher
    b>Survival motor neuron protein (SMN) is the determining factor for the human neurodegenerative disease spinal muscular atrophy (SMA). SMN is critical for small nuclear ribonucleoprotein (snRNP) assembly...

More Information

Publications43

  1. Rajendra T, Gonsalvez G, Walker M, Shpargel K, Salz H, Matera A. A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. J Cell Biol. 2007;176:831-41 pubmed
    ..Hypomorphic mutations in Smn reduce dSMN protein levels in the adult thorax, causing flightlessness and acute muscular atrophy...
  2. Ilangovan R, Marshall W, Hua Y, Zhou J. Inhibition of apoptosis by Z-VAD-fmk in SMN-depleted S2 cells. J Biol Chem. 2003;278:30993-9 pubmed
    ..is an autosomal recessive motor neuron degenerative disorder, caused by the loss of telomeric copy of the survival motor neuron gene (SMN1)...
  3. Shpargel K, Praveen K, Rajendra T, Matera A. Gemin3 is an essential gene required for larval motor function and pupation in Drosophila. Mol Biol Cell. 2009;20:90-101 pubmed publisher
    ..The initial steps, including formation of the core RNP, are mediated by the survival motor neuron (SMN) protein complex...
  4. Gonsalvez G, Rajendra T, Tian L, Matera A. The Sm-protein methyltransferase, dart5, is essential for germ-cell specification and maintenance. Curr Biol. 2006;16:1077-89 pubmed
    ..elegans show that Sm proteins are required for germ-granule localization, we propose that Sm protein methylation is a pivotal event in germ-cell development. ..
  5. Buckingham M, Liu J. U bodies respond to nutrient stress in Drosophila. Exp Cell Res. 2011;317:2835-44 pubmed publisher
    The neurodegenerative disease spinal muscular atrophy (SMA) is caused by mutation of the survival motor neuron 1 (SMN1) gene...
  6. Miguel Aliaga I, Chan Y, Davies K, van den Heuvel M. Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila. FEBS Lett. 2000;486:99-102 pubmed
    Spinal muscular atrophy is a neurodegenerative disorder caused by mutations or deletions in the survival motor neuron (SMN) gene...
  7. Cauchi R, Davies K, Liu J. A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila. PLoS Genet. 2008;4:e1000265 pubmed publisher
    The survival motor neuron (SMN) protein, the determining factor for spinal muscular atrophy (SMA), is complexed with a group of proteins in human cells. Gemin3 is the only RNA helicase in the SMN complex...
  8. Gonsalvez G, Praveen K, Hicks A, Tian L, Matera A. Sm protein methylation is dispensable for snRNP assembly in Drosophila melanogaster. RNA. 2008;14:878-87 pubmed publisher
    ..In vivo, the assembly of Sm proteins onto snRNAs requires the survival motor neurons (SMN) complex...
  9. Liu J, Gall J. U bodies are cytoplasmic structures that contain uridine-rich small nuclear ribonucleoproteins and associate with P bodies. Proc Natl Acad Sci U S A. 2007;104:11655-9 pubmed
    ..The identification of U bodies provides an opportunity to correlate specific biochemical steps of snRNP biogenesis with structural features of the cytoplasm. ..
  10. Lotti F, Imlach W, Saieva L, Beck E, Hao L, Li D, et al. An SMN-dependent U12 splicing event essential for motor circuit function. Cell. 2012;151:440-54 pubmed publisher
    Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency of the ubiquitous survival motor neuron (SMN) protein...
  11. Timmerman C, Sanyal S. Behavioral and electrophysiological outcomes of tissue-specific Smn knockdown in Drosophila melanogaster. Brain Res. 2012;1489:66-80 pubmed publisher
    Severe reduction in Survival Motor Neuron 1 (SMN1) protein in humans causes Spinal Muscular Atrophy (SMA), a debilitating childhood disease that leads to progressive impairment of the neuro-muscular system...
  12. Garcia E, Wen Y, Praveen K, Matera A. Transcriptomic comparison of Drosophila snRNP biogenesis mutants reveals mutant-specific changes in pre-mRNA processing: implications for spinal muscular atrophy. RNA. 2016;22:1215-27 pubmed publisher
    b>Survival motor neuron (SMN) functions in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) that catalyze pre-mRNA splicing...
  13. Hua Y, Zhou J. Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. Biochem Biophys Res Commun. 2004;314:268-76 pubmed
    ..To investigate SMN functions, we undertook the yeast two-hybrid screens and identified Drosophila Rpp20, a subunit of the RNase P and ..
  14. Jaglarz M, Kloc M, Jankowska W, Szymanska B, Bilinski S. Nuage morphogenesis becomes more complex: two translocation pathways and two forms of nuage coexist in Drosophila germline syncytia. Cell Tissue Res. 2011;344:169-81 pubmed publisher
    ..We also provide morphological and immunocytochemical evidence that these polymorphic nuage accumulations correspond to the recently described cytoplasmic domains termed U body-P body complexes. ..
  15. Borg R, Fenech Salerno B, Vassallo N, Bordonne R, Cauchi R. Disruption of snRNP biogenesis factors Tgs1 and pICln induces phenotypes that mirror aspects of SMN-Gemins complex perturbation in Drosophila, providing new insights into spinal muscular atrophy. Neurobiol Dis. 2016;94:245-58 pubmed publisher
    The neuromuscular disorder, spinal muscular atrophy (SMA), results from insufficient levels of the survival motor neuron (SMN) protein...
  16. Charng W, Yamamoto S, Bellen H. Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Curr Opin Neurobiol. 2014;27:158-64 pubmed publisher
    ..In this review, we summarize and discuss how studies of Drosophila PNS and NMJ development have provided guidance in experimental approaches for these diseases. ..
  17. Amaral A, Brito F, Chobanyan T, Yoshikawa S, Yokokura T, Van Vactor D, et al. Quality assessment and control of tissue specific RNA-seq libraries of Drosophila transgenic RNAi models. Front Genet. 2014;5:43 pubmed publisher
    ..Finally, we showed that trimming 5' ends of reads decreases nucleotide frequency biases, increasing the coverage of protein coding genes with a potential positive impact in the incurrence of systematic technical errors. ..
  18. Grimm C, Chari A, Pelz J, Kuper J, Kisker C, Diederichs K, et al. Structural basis of assembly chaperone- mediated snRNP formation. Mol Cell. 2013;49:692-703 pubmed publisher
    ..This so-called 6S complex docks subsequently onto the SMN complex, which removes pICln and enables the transfer of pre-assembled Sm proteins onto snRNA...
  19. Natalizio A, Matera A. Identification and characterization of Drosophila Snurportin reveals a role for the import receptor Moleskin/importin-7 in snRNP biogenesis. Mol Biol Cell. 2013;24:2932-42 pubmed publisher
    ..Strikingly, we find that msk-null mutants are depleted of the snRNP assembly factor, survival motor neuron, and the Cajal body marker, coilin...
  20. Klusza S, Novak A, Figueroa S, Palmer W, Deng W. Prp22 and spliceosome components regulate chromatin dynamics in germ-line polyploid cells. PLoS ONE. 2013;8:e79048 pubmed publisher
  21. Borg R, Bordonne R, Vassallo N, Cauchi R. Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila. PLoS ONE. 2015;10:e0130974 pubmed publisher
    The SMN-Gemins complex is composed of Gemins 2-8, Unrip and the survival motor neuron (SMN) protein. Limiting levels of SMN result in the neuromuscular disorder, spinal muscular atrophy (SMA), which is presently untreatable...
  22. Borg R, Cauchi R. The Gemin associates of survival motor neuron are required for motor function in Drosophila. PLoS ONE. 2013;8:e83878 pubmed publisher
    Membership of the survival motor neuron (SMN) complex extends to nine factors, including the SMN protein, the product of the spinal muscular atrophy (SMA) disease gene, Gemins 2-8 and Unrip...
  23. Wishart T, Mutsaers C, Riessland M, Reimer M, Hunter G, Hannam M, et al. Dysregulation of ubiquitin homeostasis and ?-catenin signaling promote spinal muscular atrophy. J Clin Invest. 2014;124:1821-34 pubmed publisher
    The autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) results from low levels of survival motor neuron (SMN) protein; however, it is unclear how reduced SMN promotes SMA development...
  24. Edens B, Ajroud Driss S, Ma L, Ma Y. Molecular mechanisms and animal models of spinal muscular atrophy. Biochim Biophys Acta. 2015;1852:685-92 pubmed publisher
    ..This article is part of a special issue entitled: Neuromuscular Diseases: Pathology and Molecular Pathogenesis. ..
  25. Praveen K, Wen Y, Gray K, Noto J, Patlolla A, Van Duyne G, et al. SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila. PLoS Genet. 2014;10:e1004489 pubmed publisher
    Mutations in the human survival motor neuron 1 (SMN) gene are the primary cause of spinal muscular atrophy (SMA), a devastating neuromuscular disorder...
  26. Rajendra T, Praveen K, Matera A. Genetic analysis of nuclear bodies: from nondeterministic chaos to deterministic order. Cold Spring Harb Symp Quant Biol. 2010;75:365-74 pubmed publisher
  27. Garcia E, Lu Z, Meers M, Praveen K, Matera A. Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes. RNA. 2013;19:1510-6 pubmed publisher
    Reduced levels of survival motor neuron (SMN) protein lead to a neuromuscular disease called spinal muscular atrophy (SMA)...
  28. Friberg A, Oddone A, Klymenko T, Muller J, Sattler M. Structure of an atypical Tudor domain in the Drosophila Polycomblike protein. Protein Sci. 2010;19:1906-16 pubmed publisher
    ..Structural comparison with other Tudor domains suggests that Pcl-Tudor may engage in intra- or intermolecular interactions through an exposed hydrophobic surface patch. ..
  29. Sen A, Yokokura T, Kankel M, Dimlich D, Manent J, Sanyal S, et al. Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling. J Cell Biol. 2011;192:481-95 pubmed publisher
    ..disorder characterized by motor neuron loss and muscle atrophy, has been linked to mutations in the Survival Motor Neuron (SMN) gene...
  30. Ruiz O, Nikolova L, Metzstein M. Drosophila Zpr1 (Zinc finger protein 1) is required downstream of both EGFR and FGFR signaling in tracheal subcellular lumen formation. PLoS ONE. 2012;7:e45649 pubmed publisher
    ..Finally, we show that down-regulation of Smn, a protein known to interact with Zpr1 in mammalian cells, shows defects similar to Zpr1 mutants.
  31. Kroiss M, Fischer U, Schultz J. When one plus one equals three: biochemistry and bioinformatics combine to answer complex questions. Fly (Austin). 2009;3:210-2 pubmed
    ..have combined bioinformatic analysis and biochemistry to study the evolution of the multi-component SMN (Survival Motor Neuron)-complex...
  32. Dimitriadi M, Sleigh J, Walker A, Chang H, Sen A, Kalloo G, et al. Conserved genes act as modifiers of invertebrate SMN loss of function defects. PLoS Genet. 2010;6:e1001172 pubmed publisher
    Spinal Muscular Atrophy (SMA) is caused by diminished function of the Survival of Motor Neuron (SMN) protein, but the molecular pathways critical for SMA pathology remain elusive...
  33. Lorbeck M, Singh N, Zervos A, Dhatta M, Lapchenko M, Yang C, et al. The histone demethylase Dmel\Kdm4A controls genes required for life span and male-specific sex determination in Drosophila. Gene. 2010;450:8-17 pubmed publisher
    ..Our results have implications for the role of the epigenetic regulator Dmel\Kdm4A in the control of genes involved in life span and male-specific sex determination in the fly. ..
  34. Titlow J, Rice J, Majeed Z, Holsopple E, Biecker S, Cooper R. Anatomical and genotype-specific mechanosensory responses in Drosophila melanogaster larvae. Neurosci Res. 2014;83:54-63 pubmed publisher
    ..g., a null white mutant and hypomorphic smn mutant are significantly more reactive to tail touches than Canton-S larvae...