Expression profiling in spinal muscular atrophy reveals an RNA binding protein deficit

Neuromuscular Disorders

Volumn 14, Issue 11, 2004, Pages 711-722

  Anderson, Kirstie N ^a   Baban, Dilair ^a   Oliver, Peter L ^a   Potter, Allyson ^a   Davies, Kay E ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Microarrays; RNA binding proteins; SMA

Indexed keywords

RNA BINDING PROTEIN; SURVIVAL MOTOR NEURON PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN; CELL SURVIVAL; DEVELOPMENTAL STAGE; FEMALE; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; MOTONEURON; MOTOR NEURON DISEASE; MOUSE; NERVE CELL; NEUROMUSCULAR DISEASE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; SPINAL CORD; SPINAL MUSCULAR ATROPHY; UPREGULATION;

ADOLESCENT; ANIMALS; BLOTTING, WESTERN; BRAIN; CELLS, CULTURED; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; EMBRYO; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; HUMANS; IMMUNOPRECIPITATION; IN SITU HYBRIDIZATION; MALE; MICE; MOTOR NEURONS; MUSCLE, SKELETAL; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PREGNANCY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; RNA-BINDING PROTEINS; SPINAL CORD;

EID: 5144221541     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.08.009     Document Type: Article

References (32)

1. S. Lefebvre, L. Burglen, and S. Reboullet Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 1995 155 165
2. C.J. DiDonato, X.N. Chen, and D. Noya Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene Genome Res 7 1997 339 352
3. C.L. Lorson, E. Hahnen, E.J. Androphy, and B. Wirth A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy Proc Natl Acad Sci USA 96 1999 6307 6311
4. D.D. Coovert, T.T. Le, and P.E. McAndrew The survival motor neuron protein in spinal muscular atrophy Hum Mol Genet 6 1997 1205 1214
5. S. Lefebvre, P. Burlet, and Q. Liu Correlation between severity and SMN protein level in spinal muscular atrophy Nat Genet 16 1997 265 269
6. P.J. Young, T.T. Le, N. thi Man, A.H. Burghes, and G.E. Morris The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells Exp Cell Res 256 2000 365 374
7. Q. Liu, and G. Dreyfuss A novel nuclear structure containing the survival of motor neurons protein Eur Mol Biol Org J 15 1996 3555 3565
8. C.L. Lorson, J. Strasswimmer, and J.M. Yao SMN oligomerization defect correlates with spinal muscular atrophy severity Nat Genet 19 1998 63 66
9. U. Fischer, Q. Liu, and G. Dreyfuss The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis Cell 90 1997 1023 1029
10. K.W. Jones, K. Gorzynski, and C.M. Hales Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin J Biol Chem 276 2001 38645 38651
11. L. Pellizzoni, B. Charroux, J. Rappsilber, M. Mann, and G. Dreyfuss A functional interaction between the survival motor neuron complex and RNA polymerase II J Cell Biol 152 2001 75 85
12. L. Pellizzoni, J. Yong, and G. Dreyfuss Essential role for the SMN complex in the specificity of snRNP assembly Science 298 2002 1775 1779
13. S. Paushkin, A.K. Gubitz, S. Massenet, and G. Dreyfuss The SMN complex, an assemblyosome of ribonucleoproteins Curr Opin Cell Biol 14 2002 305 312
14. G. Meister, C. Eggert, and U. Fischer SMN-mediated assembly of RNPs: a complex story Trends Cell Biol 12 2002 472 478
15. H. Iwahashi, Y. Eguchi, and N. Yasuhara Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy Nature 390 1997 413 417
16. P.J. Young, P.M. Day, and J. Zhou A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy J Biol Chem 277 2002 2852 2859
17. L. Gangwani, M. Mikrut, S. Theroux, M. Sharma, and R.J. Davis Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein Nat Cell Biol 3 2001 376 383
18. H.L. Zhang, F. Pan, and D. Hong Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization J Neurosci 23 2003 6627 6637
19. M.L. McWhorter, U.R. Monani, A.H. Burghes, and C.E. Beattie Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding J Cell Biol 162 2003 919 932
20. Y.B. Chan, I. Miguel-Aliaga, and C. Franks Neuromuscular defects in a Drosophila survival motor neuron gene mutant Hum Mol Genet 12 2003 1367 1376
21. B. Schrank, R. Gotz, and J.M. Gunnersen 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 USA 94 1997 9920 9925
22. H.M. Hsieh-Li, J.G. Chang, and Y.J. Jong A mouse model for spinal muscular atrophy Nat Genet 24 2000 66 70
23. U.R. Monani, M. Sendtner, and D.D. Coovert 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
24. S. Jablonka, B. Schrank, M. Kralewski, W. Rossoll, and M. Sendtner Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III Hum Mol Genet 9 2000 341 346
25. W. Rossoll, A.K. Kroning, and U.M. Ohndorf 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? Hum Mol Genet 11 2002 93 105
26. M. Nieto, M. Bennett, M. Sargent, and D. Wilkinson Cloning and developmental expression of Sna, a murine homologue of the drosophila snail gene Development 116 1992 227 237
27. C.J. Eggett, S. Crosier, and P. Manning Development and characterisation of a glutamate-sensitive motor neurone cell line J Neurochem 74 2000 1895 1902
28. L.R. Saunders, and G.N. Barber The dsRNA binding protein family: critical roles, diverse cellular functions Fed Am Soc Exp Biol J 17 2003 961 983
29. D.S. Campbell, and C.E. Holt Chemotropic responses of retinal growth cones mediated by rapid local protein synthesis and degradation Neuron 32 2001 1013 1026
30. P.J. Good, Q. Chen, S.J. Warner, and D.C. Herring A family of human RNA-binding proteins related to the Drosophila Bruno translational regulator J Biol Chem 275 2000 28583 28592
31. F. Roegiers, and Y.N. Jan Staufen: a common component of mRNA transport in oocytes and neurons? Trends Cell Biol 10 2000 220 224
32. J. Pearn Classification of spinal muscular atrophies Lancet 1 1980 919 922