The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability

Human Molecular Genetics

Volumn 8, Issue 12, 1999, Pages 2133-2143

  Miguel Aliaga, Irene ^a   Culetto, Emmanuel ^a,b   Walker, Denise S ^b   Baylis, Howard A ^b   Sattelle, David B ^a,b   Davies, Kay E ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN;

ANIMAL CELL; ARTICLE; CAENORHABDITIS ELEGANS; CELL DEATH; CELL TYPE; DNA SEQUENCE; EMBRYO DEVELOPMENT; FLUORESCENCE MICROSCOPY; GENE ISOLATION; GENE MUTATION; GENE OVEREXPRESSION; GERM CELL; HUMAN; HUMAN CELL; MOLECULAR EVOLUTION; MOTONEURON; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SPINAL MUSCULAR ATROPHY;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CAENORHABDITIS ELEGANS; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA, COMPLEMENTARY; DOWN-REGULATION; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENOMIC IMPRINTING; GERM CELLS; HUMANS; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; RNA, MESSENGER; RNA-BINDING PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

ANIMALIA; CAENORHABDITIS ELEGANS; INVERTEBRATA; NEMATODA;

EID: 0032718045     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.12.2133     Document Type: Article

References (55)

1. Dubowitz, V. (1995) The spinal muscular atrophies. In Dubowitz, V. (ed.). Muscle Disorders in Childhood. W.B. Saunders, London, p. 540.
2. Crawford, T.O. and Pardo, C.A. (1996) The neurobiology of childhood spinal muscular atrophy. Neurobiol. Dis., 3, 97-110.
3. Lefebvre, S., Burglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le, P.D., Frezal, 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.
4. 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.
5. Lorson, C., Strasswimmer, J., Yao, J.M., Baleja, J., Hahnen, E., Wirth, B. Le, T., Burghes, A. and Androphy, E. (1998) SMN oligomerisation defect correlates with spinal muscular atrophy severity. Nature Genet., 19, 63-66.
6. Liu, Q., Fischer, U. 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.
7. 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.
8. Pellizzoni, 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.
9. Wood, W.B. (1988) The Nematode Caenorhabditis elegans. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
10. Riddle, D.L. (1997) C.elegans II. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
11. The C.elegans Sequencing Consortium (1998) Genome sequence of the nematode Caenorhabditis elegans. A platform for investigating biology. Science, 282, 2012-2018.
12. 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.
13. Blumenthal, T. (1995) Trans-splicing and polycistronic transcription in Caenorhabditis elegans. Trends Genet., 11, 132-136.
14. Krause, M. (1995) Techniques for analyzing transcription and translation. Methods Cell Biol., 48, 513-529.
15. Bertrandy, S., Burlet, P., Clermont, O., Huber, C., Fondrat, C., Thierry-Mieg, D., Munnich, A. and Lefebvre, S. (1999) The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution. Hum. Mol. Genet., 8, 775-782.
16. Ponting, C. (1997) Tudor domains in proteins that interact with RNA. Trends Biochem. Sci., 22, 51-52.
17. Seydoux, G. and Fire, A. (1994) Soma-germline asymmetry in the distributions of embryonic RNAs in Caenorhabditis elegans. Development, 120, 2823-2834.
18. Kelly, W.G., Xu, S., Montgomery, M.K. and Fire, A. (1997) Distinct requirements for somatic and germline expression of a generally expressed Caernorhabditis elegans gene. Genetics, 146, 227-238.
19. Stringham, E.G., Dixon, D.K., Jones, D. and Candido, E.P. (1992) Temporal and spatial expression patterns of the small heat shock (hsp16) genes in transgenic Caenorhabditis elegans. Mol. Biol. Cell, 3, 221-233.
20. 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.
21. Trent, C., Tsung, N. and Horvitz, H.R. (1983) Egg-laying defective mutants of the nematode C.elegans. Genetics, 104, 619.
22. Rodrigues, N.R., Campbell, L., Owen, N., Rodeck, C.H. and Davies, K.E. (1995) Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis. Lancet, 345, 1049.
23. van der Steege, G., Grootscholten, P.M., van der Vlies, P., Draaijirs, T.G., Osinga, J., Cobben, J.M., Scheffer, H. and Buys, C.H.C.M. (1995) PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet, 345, 985-986.
24. Wirth, B., Schmidt, T., Hahnen, E., Rudnik-Schoneborn, S., Krawczak, M., Muller-Myhsok, B., Schonling, J. and Zerres. K. (1997) De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am. J. Hum. Genet., 61, 1102-1111.
25. Melki, J., Lefebvre, S., Bürglen, L., Burlet, P., Clermont, O., Millasseau, P., Reboullet, S., Zeviani, M., Le Paslier, D., Cohen, D. et al. (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science, 264, 1474-1477.
26. 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.
27. Talbot, K., Miguel-Aliaga, I., Mohaghegh, P., Ponting, C.P. and Davies, K.E. (1998) Characterization of a gene encoding survival motor neuron (SMN)-relaled protein, a constituent of the spliceosome complex. Hum. Mol. Genet., 7, 2149-2156.
28. Ferguson, K.C., Heid, P.J. and Rothman, J.H. (1996) The SL1 transspliced leader RNA performs an essential embryonic function in Caenorhabditis elegans that can also be supplied by SL2 RNA. Genes Dev., 10, 1543-1556.
29. 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.
30. Bardsley, A., McDonald, K. and Boswell, R.E. (1993) Distribution of tudor protein in the Drosophila embryo suggests separation of functions based on site of localization. Development, 119, 207-219.
31. Golumbeski, G.S., Bardsley, A., Tax, F. and Boswell, R.E. (1992) tudor, a posterior-group gene of Drosophila melanogaster, encodes a novel protein and an mRNA localized during mid-oogenesis. Genes Dev., 5, 2060-2070.
32. Gillespie, D.E. and Berg, C.A. (1995) Homeless is required for RNA localization in Drosophila oogenesis and encodes a new member of the DE-H family of RNA-dependent ATPases. Genes Dev., 9, 2495-2508.
33. Gumienny, T.L., Lambie, E., Hartwieg, E., Horvitz, H.R. and Hengartner, M.O. (1999) Genetic control of programmed cell death in the Caenorhabditis elegans hermaphrodite germline. Development, 126, 1011-1022.
34. Kelly, W.G. and Fire, A. (1998) Chromatin silencing and the maintenance of a functional germline in Caenorhabditis elegans. Development, 125, 2451-2456.
35. Patterson, G.I., Koweek, A., Wong, A., Liu, Y. and Ruvkun, G. (1997) The DAF-3 Smad protein antagonizes TGF-beta-related receptor signaling in the Caenorhabditis elegans dauer pathway. Genes Dev., 11, 2679-2690.
36. Bowerman, B., Draper, B.W., Mello, C.C. and Priess, J.R. (1993) The maternal gene SKN-1 encodes a protein that is distributed unequally in early C.elegans embryos. Cell, 74, 443-452.
37. Brenner, S. (1974) The genetics of Caenorhabditis elegans. Genetics, 77, 71-94.
38. Baylis, H.A., Matsuda, K., Squire, M.D., Fleming, J.T., Harvey, R.J., Darlison, M.G., Barnard, E.A. and Sattelle, D.B. (1997) ACR-3, a Caenorhabditis elegans nicotinic acetylcholine receptor subunit. Molecular cloning and functional expression. Receptors Channels, 5, 149-158.
39. Johnstone, I.L. and Barry, J.D. (1996) Temporal reiteration of a precise gene expression pattern during nematode development. EMBO J., 15, 3633-3639.
40. Albertson, D.G. (1984) Formation of the first cleavage spindle in nematode embryos. Der. Biol., 101, 61-72.
41. Miller, D.M. and Shakes, D.C. (1995) Immunofluorescence microscopy. Methods Cell Biol., 48, 381-382.
42. Fire, A., Harrison, S.W. and Dixon, D. (1990) A modular set of lacZ fusion vectors for studying gene expression in Caenorhabditis elegans. Gene, 93, 189-198.
43. Mello, C. and Fire, A. (1995) DNA transformation. Methods Cell Biol., 48, 451-482.
44. Kramer, J.M., French, R.P., Park, E.C. and Johnson, J.J. (1990) The rol-6 gene, which interacts with the Caenorhabditis elegans sqt-1 collagen gene to determine organismal morphology, encodes a collagen. Mol. Cell. Biol., 10, 2081-2089.
45. Fire, A., Xu, S., Montgomery, M.K., Kostas, S.A., Driver, S.E. and Mello, C.C. (1998) Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans. Nature, 391, 806-811.
46. Culetto, E. and Sattelle, D.B. (1999) Antisense gene knockdown technology in Caenorhabditis elegans: applications to cholinergic synaptic transmission. In Leslie, R.A., Hunter, S. and Robertson, H. (eds), Antisense Technology in the Central Nervous System. Oxford University Press, Oxford, pp. 230-243.
47. Hengartner, M.O. and Horvitz, H.R. (1994) C.elegans cell survival gene ced-9 encodes a functional homolog of the mammalian proto-oncogene bcl-2. Cell, 76, 665-676.
48. Li, L., Elledge, S.J., Peterson, C.A., Bales, E.S. and Legerski, R.J. (1994) Specific association between the human DNA repair proteins XPA and ERCC1. Proc. Natl Acad. Sci. USA, 91, 5012-5016.
49. Harper, J.W., Adami, G.R., Wei, N., Keyomarsi, K. and Elledge, S.J. (1993) The p21 Cdk-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases. Cell, 15, 805-816.
50. Gietz, R.D. and Schiestl, R.H. (1995) Methods Mol. Cell. Biol., 5, 255-269.
51. Sherman, F. (1991) Getting started with yeast. Methods Enzymol., 194, 3-21.
52. Plasterk, R.H.A. (1995) Reverse genetics. Methods Cell Biol., 48, 73-75.
53. Blumenthal, T. and Steward, K. (1997) RNA processing and gene structure. In Riddle, D.L. (ed.), C.elegans II. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, pp. 140-145.
54. Wootton, J.C. and Federhen, S. (1996) Analysis of compositionally biased regions in sequence databases. Methods Enzymol., 266, 554-571.
55. Thompson, J., Higgins, D. and Gibson, T. (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.