Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy

Human Mutation

Volumn 25, Issue 1, 2005, Pages 64-71

  Sun, Y ^a,b   Grimmler, M ^c   Schwarzer, V ^b   Schoenen, F ^a   Fischer, U ^c   Wirth, B ^a,d  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d Institute of Human Genetics   (Germany)

Author keywords

Haplotype; SIP1; SMA; SMN interacting protein 1; SMN1; SMN2; Spinal muscular atrophy

Indexed keywords

DNA MARKER; MICROSATELLITE DNA; OLIGOMER; PROTEIN; PROTEIN SIP1; SMALL NUCLEAR RIBONUCLEOPROTEIN; SURVIVAL MOTOR NEURON PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HAPLOTYPE; HUMAN; MISSENSE MUTATION; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN PROTEIN INTERACTION; SPINAL MUSCULAR ATROPHY; SPLICEOSOME;

EID: 11344265204     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20111     Document Type: Article

References (35)

1. Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G. 2002. Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex. J Biol Chem 277:31957-31962.
2. Buhler D, Raker V, Luhrmann R, Fischer U. 1999. Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy. Hum Mol Genet 8:2351-2357.
3. Charroux B, Pellizzoni L, Perkinson RA, Shevchenko A, Mann M, Dreyfuss G. 1999. Gemin3: a novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems. J Cell Biol 147:1181-1194.
4. Charroux B, Pellizzoni L, Perkinson RA, Yong J, Shevchenko A, Mann M, Dreyfuss G. 2000. Gemin4. A novel component of the SMN complex that is found in both gems and nucleoli. J Cell Biol 148:1177-1186.
5. Clermont O, Burlet P, Cruad C, Bertrandy S, Melki J, Munnich A, Lefevbre S. 1997. Mutation analysis of the SMN gene in undeleted SMA patients. Am J Hum Genet 61:A329.
6. Cusco I, Lopez E, Soler-Botija C, Jesus Barcelo M, Baiget M, Tizzano EF. 2003. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Hum Mutat 22:136-143.
7. Cusin V, Clermont O, Gerard B, Chantereau D, Elion J. 2003. Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet 40:E39.
8. Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. 2002. Quantitative Analyses of SMN1 and SMN2 based on Real-Time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 70:358-368.
9. Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini C, Novelli G, Dallapiccola B. 1995. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun 213:342-348.
10. Gubitz AK, Mourelatos Z, Abel L, Rappsilber J, Mann M, Dreyfuss G. 2002. Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins. J Biol Chem 277:5631-5636.
11. Hahnen ET, Wirth B. 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.
12. Hahnen E, Schonling J, Rudnik-Schoneborn S, Raschke H, Zerres K, 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.
13. Helmken C, Hofmann Y, Schoenen F, Oprea G, Raschke H, Rudnik-Schöneborn S, Zerres K, Wirth B. 2003. Evidence for modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum Genet 114:11-21.
14. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frézal J, Cohen D, Weissenbach J, Munnich A, Melki J. 1995. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165.
15. Liu Q, Dreyfuss G. 1996. A novel nuclear structure containing the survival of motor neurons protein. EMBO J 15:3555-3565.
16. 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.
17. Lorson CL, Strasswimmer J, Yao JM, Baleja JD, Hahnen E, Wirth B, Le T, Burghes AH, Androphy EJ. 1998. SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet 19:63-66.
18. McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, Burghes AH. 1997. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 60:1411-1422.
19. Meister G, Buhler D, Pillai R, Lottspeich F, Fischer U. 2001. A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs. Nat Cell Biol 3:945-949.
20. Meister G, Fischer U. 2002. Assisted RNP assembly: SMN and PRMT5 complexes cooperate in the formation of spliceosomal UsnRNPs. EMBO J 21:5853-5863.
21. Meister G, Eggert C, Fischer U. 2002. SMN-mediated assembly of RNPs: a complex story. Trends Cell Biol 12:472-478.
22. Munsat TL, Davies KE. 1992. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 2:423-428.
23. Pearn J. 1978. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 15:409-413.
24. Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G. 2002. Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component. J Biol Chem 277:7540-7545.
25. Ponting CP. 1997. Tudor domains in proteins that interact with RNA. Trends Biochem Sci 22:51-52.
26. Selenko P, Sprangers R, Stier G, Buhler D, Fischer U, Sattler M. 2001. SMN tudor domain structure and its interaction with the Sm proteins. Nat Struct Biol 8:27-31.
27. Sprangers R, Selenko P, Sattler M, Sinning I, Groves MR. 2003. Definition of domain boundaries and crystallization of the SMN Tudor domain. Acta Crystallogr D Biol Crystallogr 59(Pt 2):366-368.
28. van der Steege G, Grootscholten PM, van der Vlies P, Draaijirs TG, Osinga J, Cobben JM, Scheffer H, Buys CH. 1995. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345:985-986.
29. Wang J, Dreyfuss G. 2001. Characterization of functional domains of the SMN protein in vivo. J Biol Chem 276:45387-45393.
30. 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.
31. Wirth B, Schmidt T, Hahnen E, Rudnik-Schoneborn S, Krawczak M, Muller-Myhsok B, Schonling J, Zerres K. 1997. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet 61:1102-1111.
32. Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schoneborn S, Wienker T, Zerres K. 1999. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet 64:1340-1356.
33. Wirth B. 2000. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 15:228-237.
34. Young PJ, Man NT, Lorson CL, Le TT, Androphy EJ, Burghes AH, Morris GE. 2000. The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding. Hum Mol Genet 9:2869-2877.
35. Zerres K, Rudnik-Schoneborn S. 1995. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 52:518-523.