The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding

Human Molecular Genetics

Volumn 7, Issue 8, 1998, Pages 1269-1275

  Lorson, Christian L ^a   Androphy, Elliot J ^a  

^a TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLE STRANDED DNA; RNA; SINGLE STRANDED DNA; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ARTICLE; DNA BINDING; EXON; GENE CONVERSION; GENE DELETION; MOTONEURON; PRIORITY JOURNAL; RNA BINDING; RNA PROCESSING; SPINAL MUSCULAR ATROPHY; SPLICEOSOME;

AMINO ACID SEQUENCE; BINDING SITES; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA; EXONS; HUMANS; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; PROTEIN BINDING; RNA; RNA-BINDING PROTEINS;

EID: 0031829338     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Peam, J. (1980) Classification of spinal muscular atrophies. Lancet, 8174, 919-922.
2. Francis, M.J., Morrison, K.E., Campbell, L., Grewal, P.K., Christodoulou, Z., Daniels, R.J., Monaco, A.P., Frischauf, A.M., McPherson, J., Wasmuth, J. and Davies, K.E. (1993) A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. Hum. Mol. Genet., 2, 1161-1167.
3. Melki, J., Abdelhak, S., Sheth, P., Bachelot, M., Burlet, P., Maradet, A., Aicardi, J., Barois, A., Carriere, J., Fardeau, M., Fontan, D., Ponsot, G., Bilette, T., Barbosa, C., Fernere, C., Babton, M., Cohen, D., Hanauer, A., Clerget, F., Munnich, A. and Frezal, J. (1990) Gene for chronic spinal muscular atrophies maps to chromosome 5q. Nature, 344, 767-768.
4. Brzustowicz, L.M., Lehner, T., Castilla, L., Penchaszadeh, G., Wilhelmsen, K., Daniels, R., Davies, K., Leppert, M., Ziter, F., Wood, D., Dubowitz, V., Zerres, K., Ott, J., Munsat, T. and Gilliam, T.C. (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature, 344, 540-541.
5. Lefebvre, S., Burglin, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., LePaslier, D., Frezal, F., Cohen, D., Weissenbach, J., Munnich, A. and Melki, J. (1995) Identification and characterization of a spinal muscular atrophy determining gene. Cell, 80, 155-165.
6. Kleyn, P.W., Wang, C.H., Lien, L.L., Vitale, E., Pan, J., Ross, B.M., Grunn, A., Palmer, D.A., Warburton, D., Brzustowicz, L.M., Kunkel, L.M. and Gilliam, T.C. (1993) Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region. Proc. Natl Acad. Sci. USA, 90, 6801-6805.
7. Melki, J., Lefebvre, S., Burglen, L., Burlet, P., Clermont, O., Milasseau, P., Reboullet, S., Benichou, 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 atrophies. Science, 264, 1474-1477.
8. Burghes, A. (1997) When is a deletion not a deletion? When it is converted. Am. J. Hum. Genet., 61, 9-15.
9. Melki, J. (1997) Spinal muscular atrophy. Curr. Opin. Neurol., 10, 381-385.
10. 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.
11. Liu, Q. and Dreyfuss, G. (1996) A novel nuclear structure containing the survival of motor neurons protein. EMBO J., 15, 3555-3565.
12. 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 spliceosomul snRNP proteins. Cell, 90, 1013-1021.
13. Fischer, U., Liu, Q. and Dreyfuss, G. (1997) The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell, 90, 1023-1029.
14. 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 severity. Nature Genet., 19, 63-66.
15. Ponting, C. (1997) Tudor domains in proteins that interact with RNA. Trends Biochem Sci., 22, 51-52.
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, 497-500.
17. Schrank, B., Gotz, R., Gunnersen, J., Ure, J., Toyka, K., Smith, A. 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.
18. Iwarmshi, 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.
19. Lorson, C., Burger, L.R., Mouw, M. and Pintel, D.J. (1996) Efficient transactivation of the minute virus of mice P38 promoter requires upstream binding of NS1. J. Virol., 70, 832-842.