Direct interaction of Smn with dp103, a putative RNA helicase: A role for Smn in transcription regulation?

Human Molecular Genetics

Volumn 9, Issue 7, 2000, Pages 1093-1100

  Campbell, Louise ^c   Hunter, Kara M D ^c   Mohaghegh, Payam ^c   Tinsley, Jonathon M ^a,c   Brasch, Michael A ^b   Davies, Kay E ^c  

^a MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^b Life Technologies Inc   (United States)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

NERVE PROTEIN; RNA HELICASE;

ANIMAL TISSUE; ARTICLE; BRAIN; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN ISOLATION; PROTEIN PROTEIN INTERACTION; SPINAL MUSCULAR ATROPHY; TRANSCRIPTION REGULATION;

ANIMALIA; MURINAE;

EID: 0034639998     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.7.1093     Document Type: Article

References (38)

1. Dubowitz, V. (1995) Muscle Disorders in Childhood, 2nd edn. WB Saunders, London, UK.
2. Lefebvre, S., Burglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M. et al. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 80, 155-165.
3. Burghes, A.H. (1997) When is a deletion not a deletion? When it is converted. Am. J. Hum. Genet., 61, 9-15.
4. Campbell, L., Potter, A., Ignatius, J., Dubowitz, V. and Davies, K. (1997) Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am. J. Hum. Genet., 61, 40-50.
5. Coovert, D.D., Le, T.T., McAndrew, P.E., Strasswimmer, J., Crawford, T.O., Mendell, J.R., Coulson, S.E., Androphy, E.J., Prior, T.W. and Burghes, A.H. (1997) The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet., 6, 1205-1214.
6. Lefebvre, S., Burlet, P., Liu, Q., Bertrandy, S., Clermont, O., Munnich, A., Dreyfuss, G. and Melki, J. (1997) Correlation between severity and SMN protein level in spinal muscular atrophy. Nature Genet., 16, 265-269.
7. Gennarelli, M., Lucarelli, M., Capon, F., Pizzuti, A., Merlini, L., Angelini, C., Novelli, G. and Dallapiccola, B. (1995) Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem. Biophys. Res. Commun., 213, 342-348.
8. McAndrew, P.E., Parsons, D.W., Simard, L.R., Rochette, C., Ray, P.N., Mendell, J.R., Prior, T.W. and Burghes, A.H. (1997) Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am. J. Hum. Genet., 60, 1411-1422.
9. Taylor, J.E., Thomas, N.H., Lewis, C.M., Abbs, S.J., Rodrigues, N.R., Davies, K.E. and Mathew, C.G. (1998) Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy. Eur. J. Hum. Genet., 6, 467-474.
10. Schrank, B., Gotz, R., Gunnersen, J.M., Ure, J.M., Toyka, K.V., Smith, A.G. and Sendtner, M. (1997) 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, 9920-9925.
11. Burlet, P., Huber, C., Bertrandy, S., Ludosky, M.A., Zwaenepoel, I., Clermont, O., Roume, J., Delezoide, A.L., Cartaud, J., Munnich, A. and Lefebvre, S. (1998) The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy. Hum. Mol. Genet., 7, 1927-1933.
12. Novelli, G., Calza, L., Amicucci, P., Giardino, L., Pozza, M., Silani, V., Pizzuti, A., Gennarelli, M., Piombo. G., Capon, F. and Dallapiccola, B. (1997) Expression study of survival motor neuron gene in human fetal tissues. Biochem. Mol. Med., 61, 102-106.
13. Battaglia, G., Princivalle, A., Forti, F., Lizier, C. and Zeviani, M. (1997) Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum. Mol. Genet., 6, 1961-1971.
14. Liu, Q. and Dreyfuss, G. (1996) A novel nuclear structure containing the survival of motor neurons protein. EMBO J., 15, 3555-3565.
15. Liu, Q., Fischer, U., Wang, F. and Dreyfuss, G. (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.
16. Lorson, C.L., Strasswimmer, J., Yao, J.M., Baleja, J.D., Hahnen, E., Wirth, B., Le, T., Burghes, A.H. and Androphy, E.J. (1998) SMN oligomerization defect correlates with spinal muscular atrophy severity. Nature Genet., 19, 63-66.
17. Buhler, D., Raker, V., Luhrmann, R. and Fischer, U. (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.
18. Fischer, U., Liu, Q. and Dreyfuss, G. (1997) The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell, 90, 1023-1029.
19. Pellizzoni, L., Kataoka, N., Charroux, B. and Dreyfuss, G. (1998) A novel function for SMN, the spinal muscular atrophy disease gene product, in premRNA splicing. Cell, 95, 615-624.
20. Williams, B.Y., Vinnakota, S., Sawyer, C.A., Waldrep, J.C., Hamilton, S.L. and Sarkar, H.K. (1999) Differential subcellular localization of the survival motor neuron protein in spinal cord and skeletal muscle. Biochem. Biophys. Res. Commun., 254, 10-14.
21. Francis, J.W., Sandrock, A.W., Bhide, P.G., Vonsattel, J.P. and Brown, R.H. Jr (1998) Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues. Proc. Natl Acad. Sci. USA, 95, 6492-6497.
22. Bechade, C., Rostaing, P., Cisterni, C., Kalisch, R., La Bella, V., Pettmann, B. and Triller, A. (1999) Subcellular distribution of survival motor neuron (SMN) protein: possible involvement in nucleocytoplasmic and dendritic transport. Eur. J. Neurosci., 11, 293-304.
23. Iwahashi, H., Eguchi, Y., Yasuhara, N., Hanafusa, T., Matsuzawa, Y. and Tsujimoto, Y. (1997) Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy. Nature, 390, 413-417.
24. Broccolini, A., Engel, W.K. and Askanas, V. (1999) Localization of survival motor neuron protein in human apoptotic-like and regenerating muscle fibers, and neuromuscular junctions. Neuroreport, 10, 1637-1641.
25. Viollet, L., Bertrandy, S., Bueno Brunialti, A.L., Lefebvre, S., Burlet, P., Clermont, O., Cruaud, C., Guenet, J.L., Munnich, A. and Melki, J. (1997) cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn). Genomics, 40, 185-188.
26. DiDonato, C.J., Chen, X.N., Noya, D., Korenberg, J.R., Nadeau, J.H. and Simard, L.R. (1997) Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. Genome Res., 7, 339-352.
27. Grundhoff, A.T., Kremmer, E., Tureci, O., Glieden, A., Gindorf, C., Atz, J., Mueller-Lantzsch, N., Schubach, W.H. and Grasser, F.A. (1999) Characterization of DP103, a novel DEAD box protein that binds to the Epstein-Barr virus nuclear proteins EBNA2 and EBNA3C. J. Biol. Chem., 274, 19136-19144.
28. Strasswimmer, J., Lorson, C.L., Breiding, D.E., Chen, J.J., Le, T., Burghes, A.H. and Androphy, E.J. (1999) Identification of survival motor neuron as a transcriptional activator-binding protein. Hum. Mol. Genet., 8, 1219-1226.
29. Fields, S. and Song, O. (1989) A novel genetic system to detect protein -protein interactions. Nature, 340, 245-246.
30. Luking, A., Stahl, U. and Schmidt, U. (1998) The protein family of RNA helicases. Crit. Rev. Biochem. Mol. Biol., 33, 259-296.
31. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. and Lipman, D.J. (1990) Basic local alignment search tool. J. Mol. Biol., 215, 403-410.
32. Pellizzoni, L., Charroux, B. and Dreyfuss, G. (1999) SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins. Proc. Natl Acad. Sci. USA, 96, 11167-11172.
33. Lorson, C.L. and Androphy, E.J. (1998) The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding. Hum. Mol. Genet., 7, 1269-1275. [Erratum (1998) Hum. Mol. Genet., 7, 1831.]
34. de la Cruz, J., Kressler, D. and Linder, P. (1999) Unwinding RNA in Saccharomyces cerevisiae: DEAD-box proteins and related families. Trends Biochem. Sci., 24, 192-198.
35. Staley, J.P. and Guthrie, C. (1998) Mechanical devices of the spliceosome: motors, clocks, springs, and things. Cell, 92, 315-326.
36. Charroux, B., Pellizzoni, L., Perkinson, R.A., Shevchenko, A., Mann, M. and Dreyfuss, G. (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, 1181-1193.
37. Neubauer, G., King, A., Rappsilber, J., Calvio, C., Watson, M., Ajuh, P., Sleeman, J., Lamond, A. and Mann, M. (1998) Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex. Nature Genet., 20, 46-50.
38. Cox, G.A., Mahaffey, C.L. and Frankel, W.N. (1998) Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. Neuron, 21, 1327-1337.