A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

Human Molecular Genetics

Volumn 8, Issue 7, 1999, Pages 1177-1183

  Monani, Umrao R ^a   Lorson, Christian L ^b   Parsons, D William ^a   Prior, Thomas W ^a   Androphy, Elliot J ^b   Burghes, Arthur H M ^a,d   McPherson, John D ^c  

^a OHIO STATE UNIVERSITY   (United States)

^b TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d 363 Hamilton Hall ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; MESSENGER RNA; THYMINE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENHANCER REGION; EXON; GENE LOCUS; GENE SEQUENCE; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE HOMOLOGY; SPINAL MUSCULAR ATROPHY;

ALTERNATIVE SPLICING; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; POINT MUTATION; RNA-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 0032799998     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.7.1177     Document Type: Article

References (34)

1. Pearn, J. (1980) Classification of spinal muscular atrophies. Lancet, i, 919-922.
2. Munsat, T.L. and Davies, K.E. (1992) Meeting report: International SMA Consortium meeting. Neuromusc. Disord., 2, 423-428.
3. Lefebvre, S., Burglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le Paslier, 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. Hahnen, E., Schonling, J., Rudnik-Schoneborn, S., Raschke, H., Zerres, K. and Wirth, B. (1997) Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum. Mol. Genet., 6, 821-825.
5. Parsons, D.W., McAndrew, P.E., Monani, U.R., Mendell, J.R., Burghes, A.H.M. and Prior, T.W. (1996) An 11 bp duplication in exon 6 of the SMN gene produces a type 1 spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum. Mol. Genet., 5, 1727-1732.
6. Bussaglia, E., Clermont, O., Tizzano, E., Lefebvre, S., Burglen, L., Cruaud, C., Urtizberea, J.A., Colomer, J., Munnich, A., Baiget, M. and Melki, J. (1995) A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genet., 11, 335-337.
7. C gene copy number. Am. J. Hum. Genet., 60, 1411-1422.
8. Talbot, K., Ponting, C.P., Theodosiou, A.M., Rodrigues, N., Surtees, R., Mountford, R. and Davies, K. (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.
9. Rochette, C.F., Surh, L.C., Ray, P.N., McAndrew, P.E., Prior, T.W., Burghes, A.H.M., Vanesse, M. and Simard, L.R. (1997) Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. Neurogenetics, 1, 141-147.
10. Parsons, D.W., McAndrew, P.E., Iannaccone, S., Mendell, J.R., Burghes, A.H.M. and Prior, T.W. (1998) 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.
11. Hahnen, E., Schonling, J., Rudnik-Schoneborn, S., Zerres, K. and Wirth, B. (1996) 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.
12. T). Biochem. Biophys. Acta, in press.
13. Lorson, C.L., Hahnen, E., Androphy, E.J. and 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, in press.
14. 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.
15. Coovert, D., Le, T.T., McAndrew, P., Strasswimmer, J., Crawford, T.O., Mendell, J.R., Coulson, S.E., Androphy, E.J., Prior, T.W. and Burghes, A.H.M. (1997) The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet., 6, 1205-1214.
16. 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.
17. Roy, N., Mahadevan, M.S., McLean, M., Shutler, G., Yaraghi, Z., Farahani, R., Baird, S., Besner-Johnston, A., Lefebvre, C., Kang, K., Salih, M., Aubry, H., Tamai, K., Guan, X., Ionnou, P., Crawford, T.O., de Jong, P.J., Surh, L., Ikeda, J.-E., Korneluk, R. and MacKenzie, A. (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell, 80, 167-178.
18. Thompson, T.G., DiDonato, C.J., Simard, L.R., Ingraham, S.E., Burghes, A.H.M., Crawford, T.O., Rochette, C., Mendell, J.R. and Wasmuth, J.J. (1995) A novel cDNA detects homozygous microdeletions in greater than 50% of type 1 spinal muscular atrophy patients. Nature Genet., 9, 56-62.
19. DiDonato, C.J., Morgan, K., Carpten, J.D., Fuerst, P., Ingraham, S.E., Prescott, G., McPherson, J.D., Wirth, B., Zerres, K., Hurko, O., Wasmuth, J.J., Mendell, J.R., Burghes, A.H.M. and Simard, L. (1994) Association between AglCA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am. J. Hum. Genet., 55, 1218-1229.
20. Scharf, J., Endrizzi, M., Wetter, A., Huang, S., Thompson, T., Zerres, K., Dietrich, W., Wirth, B. and Kunkel, L. (1998) Identification of a candidate modifying gene for spinal muscular atrophy by comparitive genomics. Nature Genet., 20, 83-86.
21. Chen, Q., Baird, S.D., Mahadevan, M., Besner-Johnston, A., Farahani, R., Xuan, J., Kang, X., Lefebvre, C., Ikeda, J.-E., Korneluk, R. and MacKenzie, A. (1998) Sequence of a 131 kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP. Genomics, 48, 121-127.
22. Selig, S., Bruno, S., Scharf, J.M., Wang, C.H., Vitale, E., Gilliam, T.C. and Kunkel, L.M. (1995) Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc. Natl. Acad. Sci. USA, 92, 3702-3706.
23. DiDonato, C.J., Ingraham, S.E., Mendell, J.R., Prior, T.W., Lenard, S., Moxley, R., Florence, J. and Burghes, A.H.M. (1997) Deletions and conversions in spinal muscular atrophy patients: is there a relationship to severity? Ann. Neurol., 41, 230-237.
24. Lorson, C.L., Strasswimmer, J., Yao, J.M., Baleja, J.D., Hahnen, E., Wirth, B., Le, T., Burghes, A.H.M. and Androphy, E. (1998) SMN oligomerization defect correlates with spinal muscular atrophy severity. Nature Genet., 19, 63-66.
25. Berget, S.M. (1995) Exon recognition in vertebrate splicing. J. Biol. Chem., 270, 2411-2414.
26. Coulter, L.R., Landree, M.A. and Cooper, T.A. (1997) Identification of a new class of exonic splicing enhancers by in viva selection. Mol. Cell. Biol., 17, 2143-2150.
27. Cooper, T. and Mattox, W. (1997) The regulation of splice-site selection, and its role in human disease. Am. J. Hum. Genet., 61, 259-266.
28. DiDonato, C.J., Chen, X., Noya, D., Korenberg, J.R., Nadeau, J. and Simard, L.R. (1997) Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. Genome Res., 7, 339-351.
29. Campbell, L., Potter, A., Ignatius, J., Dubowitz, V. and Davies, K.E. (1997) Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am. J. Hum. Genet., 61, 40-50.
30. Burghes, A.H.M. (1997) When is a deletion not a deletion? When it is converted. Am. J. Hum. Genet, 61, 9-15.
31. Tusie-Luna, M.T. and White, P.C. (1995) Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. Proc. Natl. Acad. Sci. USA, 92, 10796-10800.
32. The International Polycystic Kidney Disease Consortium (1995) Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. Cell, 81, 289-298.
33. Horowitz, M., Wilder, S., Horowitz, Z., Reiner, O., Gelbart, T. and Beutler, E. (1989) The human glucocerebrosidase gene and its peudogene: structure and evolution. Genomics, 4, 87-96.
34. Cole-Strauss, A., Yoon, K., Xiang, Y., Byrne, B., Rice, M.C., Gryn, J., Holloman, W. and Kmiec, E. (1996) Correction of the mutation responsible for sickle cell anemia by an RNA-DNA oligonucleotide. Science, 273, 1386-1389.