38
Views
149
CrossRef citations to date
0
Altmetric
Gene Expression

The Survival of Motor Neurons Protein Determines the Capacity for snRNP Assembly: Biochemical Deficiency in Spinal Muscular Atrophy

, , , , , & show all
Pages 5543-5551 | Received 14 Feb 2005, Accepted 30 Mar 2005, Published online: 27 Mar 2023

REFERENCES

  • Achsel, T., H. Stark, and R. Luhrmann. 2001. The Sm domain is an ancient RNA-binding motif with oligo(U) specificity. Proc. Natl. Acad. Sci. USA 98:3685–3689.
  • Branlant, C., A. Krol, J. P. Ebel, E. Lazar, B. Haendler, and M. Jacob. 1982. U2 RNA shares a structural domain with U1, U4, and U5 RNAs. EMBO J. 1:1259–1265.
  • Buhler, D., V. Raker, R. Luhrmann, and U. Fischer. 1999. Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy. Hum. Mol. Genet. 8:2351–2357.
  • Charroux, B., L. Pellizzoni, R. A. Perkinson, A. Shevchenko, M. Mann, and G. Dreyfuss. 1999. Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems. J. Cell Biol. 147:1181–1194.
  • Charroux, B., L. Pellizzoni, R. A. Perkinson, J. Yong, A. Shevchenko, M. Mann, and G. Dreyfuss. 2000. Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli. J. Cell Biol. 148:1177–1186.
  • Cifuentes-Diaz, C., T. Frugier, and J. Melki. 2002. Spinal muscular atrophy. Semin. Pediatr. Neurol. 9:145–150.
  • Coovert, D. D., T. T. Le, P. E. McAndrew, J. Strasswimmer, T. O. Crawford, J. R. Mendell, S. E. Coulson, E. J. Androphy, T. W. Prior, and A. H. Burghes. 1997. The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet. 6:1205–1214.
  • Crawford, T. O., and C. A. Pardo. 1996. The neurobiology of childhood spinal muscular atrophy. Neurobiol. Dis. 3:97–110.
  • Fischer, U., Q. Liu, and G. Dreyfuss. 1997. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 90:1023–1029.
  • Fischer, U., and R. Luhrmann. 1990. An essential signaling role for the m3G cap in the transport of U1 snRNP to the nucleus. Science 249:786–790.
  • Fischer, U., V. Sumpter, M. Sekine, T. Satoh, and R. Luhrmann. 1993. Nucleo-cytoplasmic transport of U snRNPs: definition of a nuclear location signal in the Sm core domain that binds a transport receptor independently of the m3G cap. EMBO J. 12:573–583.
  • Gubitz, A. K., Z. Mourelatos, L. Abel, J. Rappsilber, M. Mann, and G. Dreyfuss. 2002. Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins. J. Biol. Chem. 277:5631–5636.
  • Hamm, J., E. Darzynkiewicz, S. M. Tahara, and I. W. Mattaj. 1990. The trimethylguanosine cap structure of U1 snRNA is a component of a bipartite nuclear targeting signal. Cell 62:569–577.
  • Hamm, J., M. Kazmaier, and I. W. Mattaj. 1987. In vitro assembly of U1 snRNPs. EMBO J. 6:3479–3485.
  • Iannaccone, S. T., S. A. Smith, and L. R. Simard. 2004. Spinal muscular atrophy. Curr. Neurol. Neurosci. Rep. 4:74–80.
  • Jarmolowski, A., and I. W. Mattaj. 1993. The determinants for Sm protein binding to Xenopus U1 and U5 snRNAs are complex and non-identical. EMBO J. 12:223–232.
  • Jorgensen, P., and M. Tyers. 2004. How cells coordinate growth and division. Curr. Biol. 14:R1014–1027.
  • Kambach, C., S. Walke, and K. Nagai. 1999. Structure and assembly of the spliceosomal small nuclear ribonucleoprotein particles. Curr. Opin. Struct. Biol. 9:222–230.
  • Kambach, C., S. Walke, R. Young, J. M. Avis, E. de la Fortelle, V. A. Raker, R. Luhrmann, J. Li, and K. Nagai. 1999. Crystal structures of two Sm protein complexes and their implications for the assembly of the spliceosomal snRNPs. Cell 96:375–387.
  • Kim, V. N., J. Yong, N. Kataoka, L. Abel, M. D. Diem, and G. Dreyfuss. 2001. The Y14 protein communicates to the cytoplasm the position of exon-exon junctions. EMBO J. 20:2062–2068.
  • Kleinschmidt, A. M., J. R. Patton, and T. Pederson. 1989. U2 small nuclear RNP assembly in vitro. Nucleic Acids Res. 17:4817–4828.
  • Lefebvre, S., L. Burglen, S. Reboullet, O. Clermont, P. Burlet, L. Viollet, B. Benichou, C. Cruaud, P. Millasseau, M. Zeviani, et al. 1995. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155–165.
  • Lefebvre, S., P. Burlet, Q. Liu, S. Bertrandy, O. Clermont, A. Munnich, G. Dreyfuss, and J. Melki. 1997. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat. Genet. 16:265–269.
  • Lerner, E. A., M. R. Lerner, C. A. Janeway, Jr., and J. A. Steitz. 1981. Monoclonal antibodies to nucleic acid-containing cellular constituents: probes for molecular biology and autoimmune disease. Proc. Natl. Acad. Sci. USA 78:2737–2741.
  • Liu, Q., and G. Dreyfuss. 1996. A novel nuclear structure containing the survival of motor neurons protein. EMBO J. 15:3555–3565.
  • Liu, Q., U. Fischer, F. Wang, and G. Dreyfuss. 1997. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 90:1013–1021.
  • Luhrmann, R. 1990. Functions of U-snRNPs. Mol. Biol. Rep. 14:183–192.
  • Luhrmann, R., B. Kastner, and M. Bach. 1990. Structure of spliceosomal snRNPs and their role in pre-mRNA splicing. Biochim. Biophys. Acta 1087:265–292.
  • Mangin, M., M. Ares, Jr., and A. M. Weiner. 1985. U1 small nuclear RNA genes are subject to dosage compensation in mouse cells. Science 229:272–275.
  • Mattaj, I. W. 1986. Cap trimethylation of U snRNA is cytoplasmic and dependent on U snRNP protein binding. Cell 46:905–911.
  • Mattaj, I. W., W. Boelens, E. Izaurralde, A. Jarmolowski, and C. Kambach. 1993. Nucleocytoplasmic transport and snRNP assembly. Mol. Biol. Rep. 18:79–83.
  • Meister, G., D. Buhler, R. Pillai, F. Lottspeich, and U. Fischer. 2001. A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs. Nat. Cell Biol. 3:945–949.
  • Meister, G., and U. Fischer. 2002. Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPs. EMBO J. 21:5853–5863.
  • Nilsen, T. W. 2003. The spliceosome: the most complex macromolecular machine in the cell. BioEssays 25:1147–1149.
  • Pellizzoni, L., B. Charroux, J. Rappsilber, M. Mann, and G. Dreyfuss. 2001. A functional interaction between the survival motor neuron complex and RNA polymerase II. J. Cell Biol. 152:75–85.
  • Pellizzoni, L., N. Kataoka, B. Charroux, and G. Dreyfuss. 1998. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell 95:615–624.
  • Pellizzoni, L., J. Yong, and G. Dreyfuss. 2002. Essential role for the SMN complex in the specificity of snRNP assembly. Science 298:1775–1779.
  • Plessel, G., U. Fischer, and R. Luhrmann. 1994. m3G cap hypermethylation of U1 small nuclear ribonucleoprotein (snRNP) in vitro: evidence that the U1 small nuclear RNA-(guanosine-N2)-methyltransferase is a non-snRNP cytoplasmic protein that requires a binding site on the Sm core domain. Mol. Cell. Biol. 14:4160–4172.
  • Raker, V. A., K. Hartmuth, B. Kastner, and R. Luhrmann. 1999. Spliceosomal U snRNP core assembly: Sm proteins assemble onto an Sm site RNA nonanucleotide in a specific and thermodynamically stable manner. Mol. Cell. Biol. 19:6554–6565.
  • Raker, V. A., G. Plessel, and R. Luhrmann. 1996. The snRNP core assembly pathway: identification of stable core protein heteromeric complexes and an snRNP subcore particle in vitro. EMBO J. 15:2256–2269.
  • Stark, H., P. Dube, R. Luhrmann, and B. Kastner. 2001. Arrangement of RNA and proteins in the spliceosomal U1 small nuclear ribonucleoprotein particle. Nature 409:539–542.
  • Sumner, C. J., T. N. Huynh, J. A. Markowitz, J. S. Perhac, B. Hill, D. D. Coovert, K. Schussler, X. Chen, J. Jarecki, A. H. Burghes, J. P. Taylor, and K. H. Fischbeck. 2003. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann. Neurol. 54:647–654.
  • Sumpter, V., A. Kahrs, U. Fischer, U. Kornstadt, and R. Luhrmann. 1992. In vitro reconstitution of U1 and U2 snRNPs from isolated proteins and snRNA. Mol. Biol. Rep. 16:229–240.
  • Temsamani, J., M. Rhoadhouse, and T. Pederson. 1991. The U2 small nuclear ribonucleoprotein particle associates with nuclear factors in a pre-mRNA independent reaction. J. Biol. Chem. 266:20356–20362.
  • Wang, J., and G. Dreyfuss. 2001. A cell system with targeted disruption of the SMN gene: functional conservation of the SMN protein and dependence of Gemin2 on SMN. J. Biol. Chem. 276:9599–9605.
  • Warner, J. R. 1999. The economics of ribosome biosynthesis in yeast. Trends Biochem. Sci. 24:437–440.
  • Will, C. L., and R. Luhrmann. 2001. Spliceosomal UsnRNP biogenesis, structure and function. Curr. Opin. Cell Biol. 13:290–301.
  • Yong, J., L. Pellizzoni, and G. Dreyfuss. 2002. Sequence-specific interaction of U1 snRNA with the SMN complex. EMBO J. 21:1188–1196.
  • Yong, J., L. Wan, and G. Dreyfuss. 2004. Why do cells need an assembly machine for RNA-protein complexes. Trends Cell Biol. 14:226–232.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.