The RNA-binding properties of SMN: Deletion analysis of the zebrafish orthologue defines domains conserved in evolution

Human Molecular Genetics

Volumn 8, Issue 5, 1999, Pages 775-782

  Bertrandy, Solange ^a   Burlet, Philippe ^a   Clermont, Olivier ^a   Huber, Céline ^a   Fondrat, Christian ^b   Thierry Mieg, Danielle ^c   Munnich, Arnold ^a   Lefebvre, Suzie ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b Citi2   (France)

^c Centre National de la Recherche Scientifique   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; POLYGLUTAMIC ACID; RECOMBINANT PROTEIN; RIBONUCLEOPROTEIN; RNA; RNA BINDING PROTEIN;

ARTICLE; CAENORHABDITIS ELEGANS; COMPLEX FORMATION; CONTROLLED STUDY; DELETION MUTANT; EVOLUTION; EXON; FRAMESHIFT MUTATION; GENETIC CONSERVATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN RNA BINDING; SPINAL MUSCULAR ATROPHY; STRUCTURE ACTIVITY RELATION; ZEBRA FISH;

EID: 0032919203     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.5.775     Document Type: Article

References (38)

1. Munsat, T.L. (1991) Workshop report: international SMA collaboration. Neuromusc. Disord., 1, 81.
2. Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le Paslier, D., Frézal, J., Cohen, D., Weissenbach, J., Munnich, A. and Melki, J. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell, 80, 155-165.
3. Burghes, A.H.M. (1997) When is a deletion not a deletion? When it is converted. Invited editorial. Am. J. Hum. Genet., 61, 9-15.
4. Lefebvre, S., Bürglen, L., Frézal, J., Munnich, A. and Melki, J. (1998) The role of the SMN gene in proximal spinal muscular atrophy. Hum. Mol. Genet., 7, 1531-1536.
5. Melki, J., Lefebvre, S., Bürglen, L., Burlet, P., Clermont, O., Millasseau, P., Reboullet, S., Bénichou, B., Zeviani, M., Le Paslier, D., Cohen, D., Weissenbach, J. and Munnich, A. (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophy. Science, 264, 1474-1477.
6. Viollet, L., Bertrandy, S., Brunialti, A.L.B., Lefebvre, S., Burlet, P., Clermont, O., Cruaud, C., Guénet, 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.
7. DiDonato, C.J., Chen, X.N., Kerenberg, 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.
8. Bürglen, L., Lefebvre, S., Clermont, O., Burlet, P., Viollet, L., Cruaud, C., Munnich, A. and Melki, J. (1996) Structure and organization of the human survival motor neuron (SMN) gene. Genomics, 32, 479-482.
9. Coovert, D.D., Le, T.T., McAndrew, P.E., Strasswimmer, J., Crawford, T.O., Mendell, J.R., Coulson, S., Androphy, E.J., Prior, T.W. and Burghes, A.H.M. (1997) The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet., 6, 1205-1214.
10. 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.
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. Liu, Q. and Dreyfuss, G. (1996) A novel nuclear structure containing the survival of motor neurons protein. EMBO J., 15, 3555-3565.
13. 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.
14. Fischer, U., Liu, Q. and Dreyfuss, G. (1997) The SMN-SIP1 complex has an essential role in the spliceosomal snRNP biogenesis. Cell, 90, 1023-1029.
15. Pellizoni, L., Kataoka, N., Charroux, B. and Dreyfuss, G. (1998) A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell, 95, 615-624.
16. Talbot, K., Ponting, C.P., Theodosiou, A.M., Rodrigues, N.R., Surtees, R., Mountford, R. and Davies, K.E. (1997) Missense mutation clustering in the survival motor neuron gene. A role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Hum. Mol. Genet., 6, 497-501.
17. Lorson, C.L., Strasswimmer, J., Yao, J.M., Baleja, J.D., Hahnen, E., Wirth, B., Thanh, L., Burghes, A.H.M. and Androphy, E.J. (1998) SMN oligomerization defect correlates with spinal muscular atrophy. Nature Genet., 19, 63-66.
18. 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.
19. Burd, C. and Dreyfuss, G. (1994) Conserved structures and diversity of functions of RNA-binding proteins. Science, 265, 615-621.
20. Landsman, D. (1992) RNP-1, an RNA-binding motif is conserved in the DNA-binding cold shock domain. Nucleic Acids Res., 20, 2861-2864.
21. Tabara, H., Motohashi, T. and Kohara, Y. (1996) A multi-well version of in situ hybridization on whole mount embryos of Caenorhabditis elegans. Nucleic Acids Res., 24, 2119-2124.
22. Blumenthal, T. (1995) Trans-splicing and polycistronic transcription in Caenorhabditis elegans. Trends Genet., 11, 132-136.
23. 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.
24. Ponting, C. (1997) Tudor domains in proteins that interact with RNA. Trends Biochem. Sci., 22, 51-52.
25. Brahe, C., Clermont, O., Zappata, S., Tiziano, F., Melki, J. and Neri, G. (1996) Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum. Mol. Genet., 5, 1971-1976.
26. Schrank, B., Götz, 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.
27. The C.elegans Sequencing Consortium (1998) Genome sequence of the nematode C.elegans: a platform for investigating biology. Science, 282, 2012-2018.
28. 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.
29. Talbot, K., Miguel-Aliaga, I., Mohaghegh, P., Ponting, C.P. and Davies, K.E. (1998) Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex. Hum. Mol. Genet., 7, 2149-2156.
30. Varani, G. and Nagai, K. (1998) RNA recognition by RNP proteins during RNA processing. Annu. Rev. Biophys. Biomol. Struct., 27, 407-445.
31. Mattaj, I.W. (1998) Ribonucleoprotein assembly: clues from spinal muscular atrophy. Curr. Biol., 8, R93-R95.
32. Thompson, J.D., Higgins, D.G. and Gibson, T.J. (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res., 22, 4673-4680.
33. Bairoch, A. (1993) The PROSITE dictionary of sites and patterns in proteins, its current status. Nucleic Acids Res., 21, 3097-3103.
34. Sonnhammer, E.L. and Kahn, D. (1994) Modular arrangement of proteins as inferred from analysis of homology. Protein Sci., 3, 482-492.
35. Fondrat, C. and Dessen, P. (1995) A rapid access motif database (RAMdb) with a search algorithm for the retrieval patterns in nucleic acids or protein databanks. CABIOS, 11, 273-279.
36. Laemmli, U.K. (1970) Cleavage of structural proteins during assembly of the head of bacteriophage T4. Nature, 227, 680-685.
37. Towbin, H., Staehelin, T. and Gordon, J. (1979) Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications. Proc. Natl Acad. Sci. USA, 76, 4350-4354.
38. Swanson, M.S. and Dreyfuss, G. (1988) Classification and purification of proteins of heterogeneous nuclear ribonucleoprotein particles by RNA-binding specificities. Mol. Cell. Biol., 8, 2237-2241.