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?

Human Molecular Genetics

Volumn 6, Issue 3, 1997, Pages 497-500

  Talbot, Kevin ^a   Ponting, Christopher P ^b   Theodosiou, Aspasia M ^a   Rodrigues, Nanda R ^a   Surtees, Robert ^c   Mountford, Roger ^d   Davies, Kay E ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d LIVERPOOL WOMEN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; MESSENGER RNA; TYROSINE;

AMINO ACID SEQUENCE; ARTICLE; CAENORHABDITIS ELEGANS; CASE REPORT; DATA BASE; GENETIC CONSERVATION; HEREDITARY SPINAL MUSCULAR ATROPHY; HUMAN; MALE; MISSENSE MUTATION; MOTONEURON; MOUSE; NONHUMAN; PRIORITY JOURNAL; RNA METABOLISM; SCHIZOSACCHAROMYCES POMBE;

AMINO ACID SEQUENCE; ANIMALS; CAENORHABDITIS ELEGANS; CLONING, MOLECULAR; CONSERVED SEQUENCE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FEMALE; GLYCINE; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA; RNA-BINDING PROTEINS; SACCHAROMYCES; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; TYROSINE;

EID: 0031044279     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.3.497     Document Type: Article

References (27)

1. Pearn, J. (1973) The gene frequency of acute Werdnig-Hoffmann disease (SMA Type I): a total population survey in North-East England. J. Med. Genet., 10, 260-265.
2. Pearn, J. (1978) Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med. Genet., 15, 409-413.
3. Dubowitz, V. (1995) Muscle Disorders in Childhood. (2nd ed.) London: W B Saunders and Co, London, pp. 540.
4. Zerres, K., Rudnik, S.S., Forkert, R., Wirth, B. (1995) Genetic basis of adult-onset spinal muscular atrophy [letter]. Lancet i, 346.
5. Brahe, C., Servidei, S., Zappata, S., Ricci, E., Tonali, P., Neri, G. (1995) Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet, 346, 741-742.
6. Melki, J., Sheth, P., Abdelhak, S., et al. (1990) Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. Lancet, 336, 271-273.
7. Gilliam, T.C., Brzustowicz, I.M., Castilla, L.H., et al. (1990) Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature, 345, 823-825.
8. Brustowicz, L.M., Lehner, T., Castilla, L.H., et al. (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to 5q11.2-13.3. Nature, 344, 540-541.
9. Melki, J., Abdelhak, S., Sheth, P., et al. (1990) Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature, 344, 767-768.
10. Lefebvre, S., Burglen, L., Reboullet, S., et al. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell, 80, 155-165.
11. Roy, N., Mahadevan, M.S., McLean, M., et al. (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell, 80, 167-178.
12. Rodrigues, N., Talbot, K., Davies, K. (1996) Molecular genetics of autosomal recessive spinal muscular atrophy. Mol. Med., 2, 400-404.
13. Lewin, B. (1995) Genes for SMA: Multum in parvo. Cell, 80, 1-5.
14. Liston, P., Roy, N., Tamai, K., et al. (1996) Suppression of apoptosis in mammalian cells by NAIP and a related family of IAP genes. Nature, 379, 349-353.
15. Rodrigues, N.R., Owen, N., Talbot, K., et al. (1996) Gene deletions in spinal muscular atrophy. J. Med. Genet., 33, 93-96.
16. van der Steege, G., Grootscholten, P., Cobben, J., et al. (1996) Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus (SMA) on chromosome 5. Am. J. Hum. Genet., 59, 834-883.
17. Hahnen, E., Schonling, J., Rudnik-Schoneborn, S., Zerres, K., Wirth, B. (1996) Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into the molecular mechanisms responsible for the disease. Am. J. Hum Genet., 59, 1057-1065.
18. Hahnen, E., Forkert, R., Marke, C., et al. (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.
19. Rodrigues, N.R., Owen, N., Talbot, K., Ignatius, J., Dubowitz, V., Davies, K.E. (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. Mol. Genet., 4, 631-634.
20. Bussaglia, E., Clermont, O., Tizzano, E., Lefebvre, S., Burglen, L., Cruaud, C., Urtizberea, J.A., Colomer, J., Munnich, A., Baiget, M., Melki, J. (1995) A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genet., 11, 335-337.
21. Parsons, W.D., McAndrew, P., Monani, U., Mendell, J., Burghes, A., Prior, T. (1996) An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA determining gene. Hum. Mol. Genet., 5, 1727-1732.
22. Brahe, C., Clermont, O., Zappata, S., Tiziano, F., Melki, J., 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.
23. Burglen, L., Patel, S., Dubowitz, V., Melki, J., Muntoni, F. (1996) A novel point mutation in the SMN gene in a patient with Type III Spinal Muscular Atrophy. First Congress of the World Muscle Society. London: Elsevier: S39.
24. Liu, Q., Dreyfuss, G. (1996) A novel nuclear structure containing the survival of motor neurons protein. EMBO J., 15, 3555-3565.
25. Altschul, S., Gish, W., Miller, W., Myers, E., Lipman, D. (1990) Basic local alignment search tool. J. Mol. Biol., 215, 403-410.
26. Dreyfuss, G., Matunis, M., Pinol-Roma, S., Burd, C. (1993) hnRNP Proteins and the biogenesis of mRNA. Ann. Rev. Biochem., 62, 289-321.
27. Cartegni, L., Maconi, M., Morandi, E., Cobianchi, F., Riva, S., Biamonti, G. (1996) HnRNP A1 selectively interacts through its Gly-rich domain with different RNA-binding proteins. J. Mol. Biol., 259, 337-348.