The role of SMN in spinal muscular atrophy

Journal of Neurology, Supplement

Volumn 247, Issue 1, 2000, Pages 37-42

  Jablonka, Sibylle ^a   Rossoll, Wilfried ^a   Schrank, Bertold ^a   Sendtner, Michael ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Animal model; Apoptosis; Knockout mouse; Motoneuron; Motoneuron disease; RNA metabolism

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 5; CONFERENCE PAPER; GENE DUPLICATION; MOLECULAR CLONING; MOTONEURON; MUSCLE WEAKNESS; NERVE CELL DEGENERATION; PRIORITY JOURNAL; RNA METABOLISM; SPINAL MUSCULAR ATROPHY;

ANIMALS; APOPTOSIS; CELL SURVIVAL; CHILD; CHROMOSOMES, HUMAN, PAIR 5; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DISEASE MODELS, ANIMAL; HUMANS; MICE; MICE, KNOCKOUT; MOTOR NEURONS; NERVE TISSUE PROTEINS; POINT MUTATION; RNA-BINDING PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 0034081740     PISSN: 09391517     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (42)

1. Bergin A, Kim G, Price DL, Sisodia SS, Lee MK, Rabin BA (1997) Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron [published erratum appears in Gene 1998 Jun 15; 213 (1-2):227]. Gene 204 : 47-53
2. Buckanovich RJ, Posner JB, Darnell RB (1993) Nova, the puraneoplastic Ri antigen, is homologous to an RNA-binding protein and is specifically expressed in the developing motor system. Neuron 11 : 657-672
3. Burglen L, Seroz T, Miniou P, Lefebvre S, Burlet P, Munnich A, Pequignot EV, Egly JM, Melki J (1997) The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Am J Hum Genet 60 : 72-79
4. Campbell L, Potter A, Ignatius J, Dubowitz V, 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. Cobben JM, Van der Steege G, Grootscholten P, De Visser M, Scheffer H, Buys CHCM (1995) Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 57 : 805-808
6. Crawford TO, Pardo CA (1996) The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 3 : 97-110
7. Dubowitz V (1995) Chaos in the classification of SMA: a possible resolution. Neuromuscul Disord 5 : 3-5
8. S. Echaniz-Laguna A, Miniou P, Bartholdi D, Melki J (1999) The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements. Am J Hum Genet 64 : 1365-1370
9. Emery AE (1991) Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscul Disord 1 : 19-29
10. Fischer U, Liu Q, Dreyfuss G (1997) The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 90 : 1023-1029
11. Gilliam TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, Dubowitz V, Munsat TL, Ott J, Davies KE (1990) Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 345 : 823-825
12. Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD, Caliendo J, Hentati A, Kwon YW, Deng H-X, Chen W, Zhai P, Sufit RL, Siddique T (1994) Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 264: 1772-1775
13. Hahnen E, Forkert R, Marke C, Rudnik Schoneborn S, Schonling J, Zerres K, Wirth B (1995) Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4: 1927-1933
14. La Bella, V, Cisterni C, Salaun D, Pettmann B (1998) Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulated. Eur J Neurosci 10 : 2913-2923
15. 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
16. Lefebvre S, Burlet P, Liu Q. Bertrandy S, Clermont O, Munnich A, Dreyfuss G, Melki J (1997) Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 16: 265-269
17. Liu Q, Dreyfuss G (1996) A novel nuclear structure containing the survival of motor neurons protein. EMBO J 15 : 3555-3565
18. Liu Q, Fischer U, Wang F, 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
19. Lorson CL, Androphy EJ (1998) The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding [published erratum appears in Hum Mol Genet 1998 Oct; 7(11) : 1831] Hum Mol Genet 7 : 1269-1275
20. Lorson CL, Hahnen E, Androphy EJ, Wirth B (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 96 : 6307-6311
21. Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, Le T, Burghes AH, Androphy EJ (1998) SMN oligomerization detect correlates with spinal muscular atrophy severity. Nat Genet 19 : 63-66
22. Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, McPherson JD (1999) A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 8 : 1177-1183
23. Monani UR, McPherson JD, Burghes AH (1999) Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT) Biochim Biophys Acta 1445 : 30-336
24. Morrison KE, Qureshi SJ, Anderson S, Borrett JP, Theodosiou A, Rodrigues N, Blake D, Neshit A, Davies KE, Porteous DJ, Brookes AJ (1996) Novel transcribed sequences represented in the complex genomic region 5q13. Biochim Biophys Acta 1308 : 97-102
25. Pearn J (1980) Classification of spinal muscular atrophies. Lancet 1 : 919-922
26. Pearn JH (1973) Fetal movements and Werdnig-Hoffmann disease. J Neurol Sci 18 : 373-379
27. Pellizzoni L, Kataoka N, Charroux B, Dreyfuss G (1998) A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell 95 : 615-624
28. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng H-X, Rahmani Z, Krizus A, McKenna-Yasek D, Cayahyah A, Gaston SM, Berger R, Tanzi RE, Halperin JJ, Herzfeldt B, Van den Berg R, Hung W-Y, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA, Haines J, Rouleau GA, Gusella JS, Horvitz HR, Brown Jr RH (1993) Mutation in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362 : 59-62
29. Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, Baird S, Besner Johnston A, Lefehvre C, Kang X, et al (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy [see comments]. Cell 80 : 167-178
30. Scharf JM, Endrizzi MG, Wetter A, Huang S, Thompson TG, Zerres K, Dietrich WF, Wirth B, Kunkel LM (1998) Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet 20 : 83-86
31. Schrank B, Gotz R, Gunnersen JM, Ure JM, Toyka KV, Smith AG, 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
32. Strasswimmer J, Lorson CL, Breiding DE, Chen JJ, Le T, Burghes AH, Androphy EJ (1999) Identification of survival motor neuron as a transcriptional activator-binding protein. Hum Mol Genet 8: 1219-1226
33. Talbot K, Miguel-Aliaga I, Mohaghegh P, Ponting CP, Davits KE (1998) Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex. Hum Mol Genet 7 : 149-2156
34. Talbot K, Rodrigues NR, Ignatius J, Muntoni F, Davies KE (1997) Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype. Neuromuscul Disord 7 : 198-201
35. Taylor JE, Thomas NH, Lewis CM, Abbs SJ, Rodrigues NR, Davies KE, Mathew CG (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
36. Thomas NH, Dubowitz V (1994) The natural history of type I (severe) spinal muscular atrophy. Neuromuscular Disord 4 : 497-502
37. Thompson TG, DiDonato CJ, Simard LR, Ingraham SE, Burghes AH, Crawford TO, Rochette C, Mendell JR, Wasmuth JJ (1995) A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet 9 : 56-62
38. Van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen GJ, Brahe C, Buys CH (1996) Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet 59 : 834-838
39. Viollet L, Bertrandy S, Bueno BA, Lefebvre S, Burlet P, Clermont O, Cruaud C, Guenet JL, Munnich A, Melki J (1997) cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn). Genomics 40 : 185-188
40. Wang CH, Xu J, Carter TA, Ross BM, Dominski MK, Bellcross CA, Penchaszadeh GK, Munsat TL, Gilliam TC (1996) Characterization of survival motor neuron (SMN(T)) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet 5 : 359-365
41. Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik Schoneborn S, Simard LR, Zerres K, Burghes AH (1995) Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet 4 : 1273-1284
42. Zerres K, Wirth B, Rudnik-Schoneborn S (1997) Spinal muscular atrophy - clinical and genetic correlations. Neuromuscul Disord 7 : 202-207