SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis

European Journal of Human Genetics

Volumn 7, Issue 3, 1999, Pages 301-309

  Patrizi, Anna Letizia ^a   Tiziano, Francesco ^a   Zappata, Stefania ^a   Donati, Maria Alice ^b   Neri, Giovanni ^a   Brahe, Christina ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Cell cultures; Immunofluorescence analysis; Spinal muscular atrophy; Survival motor neuron protein

Indexed keywords

PROTEIN; SURVIVAL MOTOR NEURON PROTEIN; UNCLASSIFIED DRUG;

AMNION CELL; ARTICLE; CELL NUCLEUS; CENTROMERE; CHORION VILLUS; CONTROLLED STUDY; CYTOPLASM; FETUS; FIBROBLAST; GENE CONVERSION; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; MOTONEURON; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; SPINAL MUSCULAR ATROPHY; TELOMERE;

AMNIOTIC FLUID; BLOTTING, WESTERN; CELLS, CULTURED; CHORIONIC VILLI; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FIBROBLASTS; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS;

EID: 0032952610     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200286     Document Type: Article

References (31)

1. Munsat TL, Davies KE: Meeting Report. International SMA Consortium meeting. Neuromusc Disord 1992; 2: 423-428.
2. Pearn JH, Hudgson P, Walton JN: A clinical and genetic study of spinal muscular atrophy of adult onset. Brain 1978; 101: 591-606.
3. Melki J, Abdelhak S, Sheth M et al: Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990; 344: 767-768.
4. Brzustowicz LM, Lehner T, Castilla LH et al: Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990; 344: 540-541.
5. Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G: Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet 1995; 346: 741-742.
6. Lefevre S, Bürglen L, Reboullet S et al: Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155-165.
7. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davics KE: Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995; 4: 631-634.
8. Van der Steege G, Grootscholten PM, Cobben JM 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 1996; 59: 834-838.
9. Campbell L, Potter A, Ignatius J, Dubowitz V, Davies KE: Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997; 61: 40-50.
10. 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 1996; 59: 1057-1065.
11. DiDonato CJ, Ingraham SE, Mendell JR et al: Deletions and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann Neurol 1997; 41: 230-237.
12. Velasco E, Valero C, Valero A, Moreno F, Hernandez-Chico C: Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype. Hum Mol Genet 1996; 5: 257-263.
13. Bussaglia E, Clermont O, Tizzano E et al: A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 1995; 11: 335-337.
14. Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G: Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet 1996; 5: 1971-1976.
15. Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AHM, Prior TW: 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 1996; 5: 1727-1732.
16. Talbot K, Ponting CP, Theodosiou AM et al: 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 1997; 6: 497-500.
17. Hahnen E, Schönling J, Rudnik-Schöneborn S, Raschke H, Zerres K, Wirth B: Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum Mol Genet 1997; 6: 821-825.
18. Gennarelli M, Lucarelli M, Capon M et al: Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Comm 1995; 213: 342-348.
19. Battaglia G, Princivalle A, Forti F, Lizier C, Zeviani M: Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum Mol Genet 1997; 6: 1961-1971.
20. Coovert DD, Le TT, McAndrew PE et al: The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997; 6: 1205-1214.
21. Lefebvre S, Burlet P, Liu Q et al: Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997; 16: 265-269.
22. Liu Q, Dreyfuss G: A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996; 15: 3555-3565.
23. Carmo-Fonseca M, Ferreira J, Lamond AI: Assembly of snRNP-containing coiled bodies is regulated in interphase and mitosis - evidence that the coiled body is a kinetic nuclear structure. J Cell Biol 1993; 120: 841-852.
24. Liu Q, Fischer U, Wang F, Dreyfuss G: The spinal muscular atrophy disease gene product SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 1997; 90: 1013-1021.
25. Fischer U, Liu Q, Dreyfuss G: The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 1997; 90: 1023-1029.
26. Blau HM, Webster C: Isolation and characterization of human muscle cells. Proc Natl Acad Sci USA 1981; 78: 5623-5627.
27. Van der Steege G, Grootscholten PM, van der Vlies P et al: PCR-based DNA test to confirm the clinical diagnosis of autosomal recessive spinal muscular atrophy (SMA). Lancet 1995; 345: 985-986.
28. c gene copy number. Am J Hum Genet 1997; 60: 1411-1422.
29. Burghes AHM: When is a deletion not a deletion? When it is converted. Am J Hum Genet 1997; 61: 9-15.
30. Bürglen L, Amiel J, Viollet L et al: Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. J Clin Invest 1996; 98: 1130-1132.
31. Baumbach L, Yang T, Clark RD, George A, Proud V, Hoffman E: X-linked lethal infantile spinal muscular atrophy (XL-SMA): Additional clinical and molecular studies support a disease locus at Xp11.3-q11.2. Am J Hum Genet 1997; 61: Suppl. A267.