Survival of motor neuron gene downregulation by RNAi: Towards a cell culture model of spinal muscular atrophy

Molecular Brain Research

Volumn 120, Issue 2, 2004, Pages 145-150

  Trülzsch, Barbara ^a   Davies, Kay ^a   Wood, Matthew ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

RNAi; siRNA; Spinal muscular atrophy; Survival of motor neuron

Indexed keywords

DOUBLE STRANDED RNA;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DOWN REGULATION; EMBRYO; GENE; GENE CONTROL; GENE FUNCTION; GENE MUTATION; GENE SILENCING; GENETIC TRANSFECTION; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA INTERFERENCE; RNA PROCESSING; SPINAL MUSCULAR ATROPHY; SURVIVAL OF MOTOR NEURON GENE;

ANIMALIA; EUKARYOTA; MURINAE;

EID: 1642450670     PISSN: 0169328X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molbrainres.2003.10.015     Document Type: Article

References (32)

1. Amarzguioui M., Brede G., Babaie E., Grotli M., Sproat B., Prydz H. Nucleic Acids Res. 28:2000;4113-4124.
2. Baccon J., Pellizzoni L., Rappsilber J., Mann M., Dreyfuss G. Identification and characterization of Gemin7, a novel component of the SMN complex. J. Biol. Chem. 13:2002;13.
3. Battaglia G., Princivalle A., Forti F., Lizier C., Zeviani M. Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum. Mol. Genet. 6:1997;1961-1971.
4. Broccolini A., Engel W.K., Askanas V. Localization of survival motor neuron protein in human apoptotic-like and regenerating muscle fibers, and neuromuscular junctions. Neuroreport. 10:1999;1637-1641.
5. Buhler D., Raker V., Luhrmann R., Fischer U. Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy. Hum. Mol. Genet. 8:1999;2351-2357.
6. Burlet P., Huber C., Bertrandy S., Ludosky M.A., Zwaenepoel I., Clermont O., Roume J., Delezoide A.L., Cartaud J., Munnich A., Lefebvre S. The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy. Hum. Mol. Genet. 7:1998;1927-1933.
7. Cifuentes-Diaz C., Frugier T., Tiziano F.D., Lacene E., Roblot N., Joshi V., Moreau M.H., Melki J. Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. J. Cell Biol. 152:2001;1107-1114.
8. Elbashir S.M., Lendeckel W., Tuschl T. RNA interference is mediated by 21- and 22-nucleotide RNAs. Genes Dev. 15:2001;188-200.
9. Fischer U., Liu Q., Dreyfuss G. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell. 90:1997;1023-1029.
10. Frugier T., Tiziano F.D., Cifuentes-Diaz C., Miniou P., Roblot N., Dierich A., Le Meur M., Melki J. Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy. Hum. Mol. Genet. 9:2000;849-858.
11. Harborth J., Elbashir S.M., Bechert K., Tuschl T., Weber K. Identification of essential genes in cultured mammalian cells using small interfering RNAs. J. Cell. Sci. 114:2001;4557-4565.
12. Hsieh-Li H.M., Chang J.G., Jong Y.J., Wu M.H., Wang N.M., Tsai C.H., Li H. A mouse model for spinal muscular atrophy. Nat. Genet. 24:2000;66-70.
13. Ilangovan R., Marshall W.L., Hua Y., Zhou J. Inhibition of apoptosis by Z-VAD-fmk in SMN-depleted S2 cells. J. Biol. Chem. 278:2003;30993-30999.
14. Kawasaki H., Suyama E., Iyo M., Taira K. siRNAs generated by recombinant human Dicer induce specific and significant but target site-independent gene silencing in human cells. Nucleic Acids Res. 31:2003;981-987.
15. Kerr D.A., Nery J.P., Traystman R.J., Chau B.N., Hardwick J.M. Survival motor neuron protein modulates neuron-specific apoptosis. (in process citation) Proc. Natl. Acad. Sci. U. S. A. 97:2000;13312-13317.
16. Lefebvre S., Burglen L., Reboullet S., Clermont O., Burlet P., Viollet L., Benichou B., Cruaud C., Millasseau P., Zeviani M.et al. Identification and characterization of a spinal muscular atrophy-determining gene. (see comments) Cell. 80:1995;155-165.
17. Lefebvre S., Burlet P., Liu Q., Bertrandy S., Clermont O., Munnich A., Dreyfuss G., Melki J. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat. Genet. 16:1997;265-269.
18. Liu Q., Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J. 15:1996;3555-3565.
19. Liu Q., Fischer U., Wang F., Dreyfuss G. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell. 90:1997;1013-1021.
20. Monani U.R., Sendtner M., Coovert D.D., Parsons D.W., Andreassi C., Le T.T., Jablonka S., Schrank B., Rossol W., Prior T.W., Morris G.E., Burghes A.H. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum. Mol. Genet. 9:2000;333-339.
21. Patzel V., Steidl U., Kronenwett R., Haas R., Sczakiel G. Nucleic Acids Res. 27:1999;4328-4334.
22. Pearn J. Classification of spinal muscular atrophies. Lancet. 1:1980;919-922.
23. Pellizzoni L., Kataoka N., Charroux B., Dreyfuss G. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell. 95:1998;615-624.
24. Pellizzoni L., Charroux B., Dreyfuss G. SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins. Proc. Natl. Acad. Sci. U. S. A. 96:1999;11167-11172.
25. Pellizzoni L., Baccon J., Charroux B., Dreyfuss G. The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1. Curr. Biol. 11:2001;1079-1088.
26. Sambrook J.F.E., Maniatis T. Molecular Cloning: A Laboratory Manual. 2nd ed. 1989;Cold Spring Harbor Laboratory, Cold Spring Harbor.
27. Scherr M., Rossi J.J., Sczakiel G., Patzel V. RNA accessibility prediction: a theoretical approach is consistent with experimental studies in cell extracts. Nucleic Acids Res. 28:2000;2455-2461.
28. Schrank B., Gotz R., Gunnersen J.M., Ure J.M., Toyka K.V., Smith A.G., Sendtner M. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc. Natl. Acad. Sci. U. S. A. 94:1997;9920-9925.
29. Sijen T., Fleenor J., Simmer F., Thijssen K.L., Parrish S., Timmons L., Plasterk R.H., Fire A. On the role of RNA amplification in dsRNA-triggered gene silencing. Cell. 107:2001;465-476.
30. Trulzsch B.D., Davies K.E., Wood M.J.A. Characterisation of catalytic nucleic acids targeting the survival of motor neuron messenger RNA. Neurosci. Res. Commun. 32:2003;95-106.
31. Walter A.E., Turner D.H., Kim J., Lyttle M.H., Muller P., Mathews D.H., Zuker M. Coaxial stacking of helixes enhances binding of oligoribonucleotides and improves predictions of RNA folding. Proc. Natl. Acad. Sci. U. S. A. 91:1994;9218-9222.
32. Yong J., Pellizzoni L., Dreyfuss G. Sequence-specific interaction of U1 snRNA with the SMN complex. EMBO J. 21:2002;1188-1196.