Cloning, characterization, and copy number of the murine survival motor neuron gene homolog of the spinal muscular atrophy-determining gene

Genome Research

Volumn 7, Issue 4, 1997, Pages 339-352

  DiDonato, Christine J ^a   Chen, Xiao Ning ^b   Noya, David ^b   Korenberg, Julie R ^b   Nadeau, Joseph H ^c   Simard, Louise R ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; PROTEIN; TYROSINE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL NUCLEUS; CHROMOSOME 13; CHROMOSOME 5Q; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENE MUTATION; GENE NUMBER; GENETIC CONSERVATION; MOLECULAR CLONING; MOTONEURON; MOUSE; NONHUMAN; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; SPINAL MUSCULAR ATROPHY;

EID: 0030896085     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.7.4.339     Document Type: Article

References (48)

1. Altschul, S., G. Warren, W. Miller, E. Myers, and D. Lipman. 1990. Basic local alignment search tool. J. Mol. Biol. 215: 403-410.
2. Beckers, M.C., S. Yoshida, K. Morgan, E. Skamene, and P. Gros. 1995. Natural resistance to infection with Legionella pneumophila: Chromosomal localization of the Lgn1 susceptibility gene. Mamm. Genome 6: 540-545.
3. Boyle, A.L., S.G. Ballard, and D.C. Ward. 1990. Differential distribution of long and short interspersed element sequences in the mouse genome: Chromosome karyotyping by flourescence in situ hybridization. Prac. Natl. Acad. Sci. 87: 7757-7761.
4. Brahe, C., I. Velona, G. van der Steege, S. Zappata, A.Y. van der Veen, J. Osinga, C.M. Tops, R. Fodde, P.M. Khan, C.H.C. Buys, and G. Neri. 1994. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis. Hum. Genet. 93: 494-450.
5. Brahe, C., O. Clermont, S. Zappata, F. Tiziano, J. Melki, and N. Giovanni. 1996. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum. Mol. Genet. 5: 1971-1976.
6. Burghes, A.H.M., S.E. Ingraham, M. McLean, T.G. Thompson, J.D. McPherson, Z. Kote-Jarai, J.D. Carpten, C. DiDonato, J.E. Ikeda, L. Surh, B. Wirth, C.A. Sargent, M.A. Ferguson-Smith, P. Fuerst, R.K. Moyzis, D.L, Grady, K. Zerres, R. Korneluk, A. MacKenzie, and J.J. Wasmuth. 1994. A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. Genomics 21: 394-402.
7. Bürglen, L., S. Lefebvre, O. Clermont, P. Burlet, L. Viollet, C. Cruaud, A. Munnich, and J. Melki. 1996. Structure and organization of the human survival motor neurone (SMN) gene. Genomics 32: 479-482.
8. Bussaglia, E., O. Clermont, E. Tizzano, S. Lefebvre, L. Bürglen, C. Cruaud, J.A. Urtizberea, J. Colomer, A. Munnich, M. Baiget, and J. Melki. 1995. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genet. 11: 335-337.
9. Chang, J.-G., Y.-J. Jong, J.-M. Huang, W.-S. Wang, T.-Y. Yang, C.-P. Chang, Y.-J. Chen, and S.-P. Lin. 1995. Molecular basis of spinal muscular atrophy in Chinese. Am. J. Hum. Genet. 57: 1503-1505.
10. Daniels, R.J., L. Campbell, N.R. Rodrigues, M.J. Francis, K.E. Morrison, M. McLean, A. MacKenzie, J. Ignatius, V, Dubowitz, and K.E. Davies. 1995. Genomic rearrangements in childhood spinal muscular atrophy: Linkage disequilibrium with a null allele. J. Med. Genet. 32: 93-96.
11. DiDonato, C.J., K. Morgan, J.D. Carpten, P. Fuerst, S.E. Ingraham, G. Prescott, J.D. McPherson, W. Wirth, K. Zerres, O. Hurko, J.J. Wasmuth, J.R. Mendell, A.H.M. Burghes, and J L.R. Simard. 1994. Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am. J. Hum. Genet. 55: 1218-1229.
12. DiDonato, C.J., S.E. Ingraham, J.R. Mendell, T.W. Prior, S. Lenard, R.T. Moxley, J. Florence, and A.H.M. Burghes. 1997a. Deletion and conversion in SMA patients: Is there a relationship to severity? Ann. Neuml. 41: 230-237.
13. DiDonato, C.J., J.H. Nadeau, and L.R. Simard. 1997b. The mouse neuronal apoptosis inhibitory protein gene maps to a conserved syntenic region of mouse Chromosome 13. Mamn. Genome 8: 222.
14. Dietrich, W., H. Katz, S.E. Lincoln, H.S. Shin, J. Friedman, N.C. Dracopoli, and E.S. Lander. 1992. A genetic map of the mouse suitable for typing intraspecific crosses. Genetics 131: 423-447.
15. Dietrich, W.F., D.M. Damron, R.R. Isberg, E.S. Lander, and M.S. Swanson. 1995. Lgn1, a gene that determines susceptability to Legionella pneumophila, maps to mouse chromosome 13. Genomics 26: 443-450.
16. Feinberg, A.P. and B. Vogelstein. 1983. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 132: 6-13.
17. Francis, M.J., K.E. Morrison, L. Campbell, P.K. Grewal, Z. Christodoulou, R.J. Daniels, A.P. Monaco, A.M. Frischauf, J. McPherson, J. Wasmuth, and K.E. Davies. 1993. A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. Hum. Mol. Genet 2: 1161-1167.
18. Francis, M.J., M.A. Nesbit, A.M. Theodosiou, N.R. Rodrigues, L. Campbell, Z. Christodoulou, S.J. Qureshi, D.J. Porteous, A.J. Brookes, and K.E. Davies. 1995. Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13. Genomics 27: 366-369.
19. Gennarelli, M., M. Lucarelli, F. Capon, A. Pizzuti, L. Merlini, C. Angelini, G. Novelli, and B. Dallapiccola. 1995. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem. Biophys. Res. Commun. 213: 342-348.
20. Hahnen, E.T. and B. Wirth. 1996. Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): A further possibility for distinguishing the two copies of the gene. Hum. Genet. 98: 122-123.
21. Hahnen, E., R. Forkert, C. Marke, S. Rudnik-Schöneborn, J. Schönling, K. Zerres, and B. Wirth. 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.
22. Hahnen, E., J. Schönling, S. Rudnik-Schöneborn, K. Zerres, and B. Wirth. 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.
23. Israel, D. 1993. A PCR-based method for high stringency screening of DNA libraries. Nucleic Acids Res. 21: 2627-2631.
24. Korenberg, J.R. and X.-N. Chen. 1996. Human cDNA mapping using a high resolution R-banding technique and fluorescence in situ hybridization. Cytogenet. Cell Genet. 69: 196-200.
25. Lefebvre, S., L. Bürglen, S. Reboullet, O. Clermont, P. Burlet, L. Viollet, B. Benichou, C. Cruaud, P. Millasseau, M. Zeviani, D. Le Paslier, J. Frézal, D. Cohen, J. Weissenbach, A. Munnich, and J. Melki. 1995. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155-165.
26. Lennon, G., C. Auffray, M. Polymeropoulos, and M.B. Scares. 1996. The I.M.A.G.E. Consortium: An integrated molecular analysis of genomes and their expression. Genomics 33: 151-152.
27. Liu, Q. and G. Dreyfuss. 1996. A novel nuclear structure containing the survival of motor neurons protein. EMBO J. 15: 3555-3565.
28. McLean, M.D., N. Roy, A.E. MacKenzie, M. Salih, A.H.M. Burghes, L. Simatd, R.G. Korneluk, J.-E. Ikeda, and L. Surh. 1994. Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy. Hum. Mol. Genet. 3: 1951-1956.
29. Melki, J., S. Lefebvre, L. Burglen, P. Burlet, O. Clermont, P. Millasseau, S. Reboullet, B. Benichou, M. Zeviani, D. Le Paslier, D. Cohen, J. Weissenbach, and A. Munnich. 1994. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264: 1474-1477.
30. Munsat, T.M. and K.E. Davies. 1992. Meeting report: International SMA Consortium Meeting. Neuromusc. Disorders 2: 423-428.
31. Parsons, D.W., P.E. McAndrew, U.R. Monani, J.R. Mendell, A.H.M. Burghes, and T.W. Prior. 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-determinirvg gene. Hum. Mol. Genet. 5: 1727-1732.
32. Pearn, J. 1980. Classification of spinal muscular atrophies. Lancet 1: 919-922.
33. Rodrigues, N.R., N. Owen, K. Talbot, J. Ignatius, V. Dubowitz, and K.E. Davies. 1995. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum. Mol. Genet. 4: 631-634.
34. Roy, N., M. McLean, A. Besner-Johnston, C. Lefebvre, M. Salih, J. Carpten, A.H.M. Burghes, Z. Yaraghi, J.-E. Ikeda, R.G. Korneluk, and A.E. MacKenzie. 1995a. Refined physical map of the spinal muscular atrophy gene (SMA) region at 5q13 based on YAC and cosmid contiguous arrays. Genomics 26: 451-460.
35. Roy, N., M.S. Mahadevan, M. McLean, G. Shutler, Z. Yaraghi, R. Farahani, S. Baird, A. Besner-Johnston, C. Lefebvre, X. Rang, M. Salih, H. Aubry, K. Tamai, X. Guan, P. Ioannou, T.O. Crawford, P.J. de Jong, L. Surh, J.-E. Ikeda, R.G. Korneluk, and A. Mackenzie. 1995b. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80: 167-178.
36. Rowe, L.B., J.H. Nadeau, R. Turner, W.N. Frankel, V.A. Letts, J.T. Eppig, M.S. Ko, S.J. Thurston, and E.H. Birkenmeier. 1994. Maps from two interspecific backcross DNA panels available as a community genetic mapping resource. Mamm. Genome 5: 253-274.
37. Sambrook, J., E.F. Fritsch, and T. Maniatis. 1989. Molecular cloning: A laboratory manual, 2nd ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
38. Scharf, J.M., D. Damron, A. Frisella, S. Bruno, A.H. Beggs, L.M. Kunkel, and W.F. Dietrich. 1996. The mouse region syntenic for human spinal muscular atrophy lies within the Lgn1 critical interval and contains multiple copies of Naip exon 5. Genomics 28: 405-417.
39. Selig, S., S. Bruno, J.M. Scharf, C.H. Wang, E. Vitale, T.C. Gilliam, and L.M. Kunkel. 1995. Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc. Natl. Acad. Sci. 92: 3702-3706.
40. T and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): Genotype/phenotype correlations with disease severity. Am. J. Med. Genet, (in press).
41. Theodosiou, A.M., K.E. Morrison, A.M. Nesbit, R.J. Daniels, L. Campbell, M.J. Francis, Z. Christodoulou, and K.E. Davies. 1994. Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13. Am. J. Hum. Genet. 55: 1209-1217.
42. Thompson, T.G., K.E. Morrison, P. Kleyn, U. Bengtsson, T.C. Gilliam, K.E. Davies, J.J. Wasmuth, and J.D. McPherson. 1993. High resolution physical map of the region surrounding the spinal muscular atrophy gene. Hum. Mol. Genet. 2: 1169-1176.
43. van der Steege, G., P.M. Grootscholten, P. van der Vlies, T.G. Draaijers, J. Osinga, J.M. Cobben, H. Scheffer, and C.H.C.M. Buys. 1995a. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345: 985-986.
44. van der Steege, G., T.G. Draaijers, P.M. Grootscholten, J. Osinga, R. Anevino, I. Velona, J.T. Den Dunnen, H. Scheffer, C. Brahe, and G.J. van Ommen. 1995b. A provisional transcription map of the spinal muscular atrophy (SMA) critical region. Eur. J. Hum. Genet. 3: 87-95.
45. van der Steege, G., P. Groolscholten, J. Cobben, S. Zappata, H. Scheffer, J. den Dunnen, G. van Ommen, C. Brahe, and C.H.C.M. Buys. 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: 834-838.
46. CBCD541 and SMA phenotype. Hum. Mol. Genet. 5: 257-263.
47. Wang, C.H., P.W. Kleyn, E. Vitale, B.M. Ross, L. Lien, J. Xu, T.A. Carter, L.M. Brzustowicz, S. Obici, S. Selig, L. Pavone, E. Parone, G.K. Penchaszadeh, T. Munsat, L.M. Kunke, and T.C. Gilliam. 1995. Refinement of the spinal muscular atrophy locus by genetic and physical mapping. Am. J. Hum. Genet. 56: 202-209.
48. Zhu, Y., C. Qi., J.R. Korenberg, X.-N. Chen, D. Noya, M.S. Rao, and J.K. Reddy. 1995. Structural organization of mouse peroxisome proliferator-activated receptor g (mPPARg) gene: Alternative promoter use and different splicing yield two mPPARg isoforms. Proc. Natl. Acad. Sci 92: 7921-7925.