A mouse model for spinal muscular atrophy (original) (raw)

References

  1. Lefebvre, S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155–165 (1995).
    Article CAS PubMed Google Scholar
  2. Lefebvre, S., Bürglen, L., Frezal, J., Munnich, A. & Melki, J. The role of the SMN gene in proximal spinal muscular atrophy. Hum. Mol. Genet. 7, 1531–1536 (1998).
    Article CAS PubMed Google Scholar
  3. Hahnen, E., Schonling, J., Rudnik-Schöneborn, S., Zerres, K. & Wirth, B. Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am. J. Hum. Genet. 59, 1057–1065 (1996).
    CAS PubMed PubMed Central Google Scholar
  4. van der Steege, G. et al. 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 (1996).
    CAS PubMed PubMed Central Google Scholar
  5. Parsons, D.W. et al. Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am. J. Hum. Genet. 63, 1712–1723 (1998).
    Article CAS PubMed PubMed Central Google Scholar
  6. Dubowitz, V. Muscle Disorders in Childhood (W.B. Saunders, London, 1995).
  7. Chou, S.M. & Nonaka, I. Werdnig-Hoffmann disease: proposal of a pathogenetic mechenism. Acta Neuropathol. 41, 45–54 (1978).
    Article CAS PubMed Google Scholar
  8. Lefebvre, S. et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nature Genet. 16, 265–269 (1997).
    Article CAS PubMed Google Scholar
  9. Bergin, A. et al. Identification and characterization of a mouse homologue of the spinal muscular atrophy-determining gene, survival motor neuron. Gene 204, 47–53 (1997).
    Article CAS PubMed Google Scholar
  10. Burghes, A.H.M. When is a deletion not a deletion? When it is converted. Am. J. Hum. Genet. 61, 9–15 (1997).
    Article CAS PubMed PubMed Central Google Scholar
  11. Melki, J. Spinal muscular atrophy. Curr. Opin. Neurol. 10, 381–385 (1997).
    Article CAS PubMed Google Scholar
  12. Dimitar, K. et al. Differential SMN2 expression associated with SMA severity. Nature Genet. 20, 230–231 (1998).
    Article Google Scholar
  13. Monani, U.R. et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum. Mol. Genet. 8, 1177–1183 (1999).
    Article CAS PubMed Google Scholar
  14. Francis, J.W., Sandrock, A.W., Bhide, P.G., Vonsattel, J.P. & Brown, R.H. 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 (1998).
    Article CAS PubMed PubMed Central Google Scholar
  15. La Bella, V., Cisterni, C., Salaun, D. & Pettmann, B. Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulated. Eur. J. Neurosci. 10, 2913–2923 (1998).
    Article CAS PubMed Google Scholar
  16. Burlet, P. et al. The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy. Hum. Mol. Genet. 7, 1927–1933 (1998).
    Article CAS PubMed Google Scholar
  17. Coovert, D.D. et al. The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet. 6, 1205–1214 (1997).
    Article CAS PubMed Google Scholar
  18. Pellizzoni, L., Charroux, B. & Dreyfuss, G. SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins. Proc. Natl Acad. Sci. USA 96, 11167–11172 (1999).
    Article CAS PubMed PubMed Central Google Scholar
  19. Pellizzoni, L., Kataoka, N., Charroux, B. & Dreyfuss, G. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell 95, 615–624 (1999).
    Article Google Scholar
  20. Iwahashi, H. et al. Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy. Nature 390, 413–417 (1997).
    Article CAS PubMed Google Scholar
  21. Strasswimmer, J. et al. Identification of survival motor neuron as a transcriptional activator-binding protein. Hum. Mol. Genet. 8, 1219–1226 (1999).
    Article CAS PubMed Google Scholar
  22. Campbell, L., Potter, A., Ignatius, J., Dubowitz, V. & Davies, K. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am. J. Hum. Genet. 61, 40–50 (1997).
    Article CAS PubMed PubMed Central Google Scholar
  23. Chang, J.G. et al. Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents. Hum. Genet. 100, 577–581 (1997).
    Article CAS PubMed Google Scholar
  24. Li, H., Zeitler, P.S., Valerius, M.T., Small, K. & Potter, S.S. Gsh-1, an orphan Hox gene, is required for normal pituitary development. EMBO J. 15, 714–724 (1996).
    Article CAS PubMed PubMed Central Google Scholar
  25. Hooper, M., Hardy, K., Handyside, A., Hunter, S. & Monk, M. HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells. Nature 326, 292–295 (1987).
    Article CAS PubMed Google Scholar
  26. Hogan, B., Boddington, R., Costantini, F. & Lacy, E. Manipulating the Mouse Embryo (Cold Spring Harbor Laboratory Press, New York, 1994).
  27. Hendrey, J., Lin, D. & Dziadek, M. Developmental analysis of the Hba (th-J) mouse mutation: effects on mouse peri-implantation development and identification of two candidate genes. Dev. Biol. 172, 253–263 (1995).
    Article CAS PubMed Google Scholar
  28. Zhang, L. et al. Whole genome amplification from a single cell: implications for genetic analysis. Proc. Natl Acad. Sci. USA 89, 5847–5851 (1992).
    Article CAS PubMed PubMed Central Google Scholar
  29. Schreiber, E., Matthias, P., Muller, M.M. & Schaffner, W. Rapid detection of octamer binding proteins with ‘mini-extracts’, prepared from a small number of cells. Nucleic Acids Res. 17, 6419 (1989).
  30. Laemmli, U.K. Cleavage of structural proteins during assembly of the head of bacteriophage T4. Nature 227, 680–685 (1970).
    Article CAS PubMed Google Scholar

Download references