Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

Human Molecular Genetics

Volumn 9, Issue 9, 2000, Pages 1403-1413

  Hewett, Jeffrey ^a   Gonzalez Agosti, Charo ^a,b   Slater, Damien ^a   Ziefer, Philipp ^a   Li, Sang ^a   Bergeron, Daniele ^a   Jacoby, David J ^a   Ozelius, Laurie J ^a,c   Ramesh, Vijaya ^a   Breakefield, Xandra O ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; GLYCOSYLATED PROTEIN; MUTANT PROTEIN; NERVE PROTEIN; PROTEIN DISULFIDE ISOMERASE; TORSIN A; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL INCLUSION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FIBROBLAST; GLIA CELL; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; MOUSE; NERVE CELL CULTURE; NEUROPATHOLOGY; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; TORSION DYSTONIA;

ANIMALIA;

EID: 0034702033     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.9.1403     Document Type: Article

References (47)

1. Ozelius, L.J., Hewett, J., Page, C., Bressman, S., Kramer, P., Shalish, C., de Leon, D., Brin, M., Raymond, D., Corey, D.P. et al. (1997) The early-onset torsion dystonia gene (DYTI) encodes an ATP-binding protein. Nature Genet., 17, 40-48.
2. Fahn, S., Bressman, S.B. and Marsden, C.D. (1998) Classification of dystonia. In Fahn, S., Marsden, C.D. and DeLong, M. (eds), Dystonia 3: Advances in Neurology. Lippincott-Raven Publishers, Philadelphia, PA, pp. 1-10.
3. Bressman, S.B., de Leon, M.S., Kramer, P.L., Ozelius, L.J., Brin, M.F., Greene, P.E., Fahn, S., Breakefield, X.O. and Risch, N.J. (1994) Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation. Ann. Neurol., 36, 771-777.
4. Klein, C., Friedman, J., Bressman, S., Vieregge, P., Brin, M.F., Pramstaller, P.P., de Leon, D., Hagenah, J., Sieberer, M., Fleet, C. et al. (1999) Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet. Test., 3, 323-328.
5. Ozelius, L.J., Hewett, J.W., Page, C.E., Bressman, S.B., Kramer, P.L., Shalish, C., deLeon, D., Brin, M., Raymond, D., Jacoby, D. et al. (1998) The gene (DYTI) for early onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. In Fahn, S., Marsden, C.D. and DeLong, M. (eds), Dystonia 3 Advances in Neurology. Lippincott-Raven, Philadelphia, PA, pp. 93-105
6. Todd, R.D. and Perlmutter, J.S. (1998) Mutational and biochemical analysis of dopamine in dystonia: evidence for decreased dopamine D2 receptor inhibition. Mol. Neurobiol., 16, 135-147.
7. Augood, S.J., Penney, J.B., Friberg, I., Breakefield, X.O., Young, A., Ozelius, L.J. and Standaert, D.G. (1998) Expression of the early-onset torsion dystonia gene (DYTI) in human brain. Ann. Neurol., 43, 669-673.
8. Augood, S.J., Martin, D.M., Ozelius, L.J., Breakefield, X.O., Penney Jr, J.B. and Standaert, D.G. (1999) Distribution of the mRNAs encoding torsinA and torsinB in the adult human brain. Ann. Neurol., 46, 761-769.
9. Ozelius, L.J., Page, C.E., Klein, C., Hewett, J.W., Mineta, M., Leung, J., Shalish, C., Bressman, S.B., de Leon, D., Brin, M.F. et al. (1999) The TORIA (DYTI) gene family and its role in early onset torsion dystonia. Genomics, 62, 377-384.
10. Neuwald, A.F., Aravind, L., Spouge, J.L. and Koonin, E.V. (1999) AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. Genome Res., 9, 27-43.
11. Confalonieri, F. and Duguet, M. (1995) A 200-amino acid ATPase module in search of a basic function. Bioessays, 17, 639-650.
12. Schirmer, E.C., Glover, J.R., Singer, M.A. and Lindquist, S. (1996) HSP100/Clp proteins: a common mechanism explains diverse functions. Trends Biochem. Sci., 21, 289-296.
13. Neuwald, A.F. (1999) The hexamerization domain of N-ethylmaleimide-sensitive factor: structure clues to chaperone function. Structure, 7, R19-R23.
14. Lupas, A., Flanagan, J.M., Tamura, T. and Baumeister, W. (1997) Self-compartmentalization proleases. Trends Biochem. Sci., 22, 399-404.
15. Fiedler, K. and Rothman, J.E. (1997) Sorting determinants in the transmembrane domain of p24 proteins. J. Biol. Chem., 272, 24739-24742.
16. Kappeler, F., Klopfenstein, D.R., Foguet, M., Paccaud, J.P. and Hauri, H.P. (1997) The recycling of ERGIC-53 in the early secretory pathway. ERGIC-53 carries a cytosolic endoplasmic reticulum-exit determinant interacting with COPII. J. Biol. Chem., 272, 31801-31808.
17. Risch, N., de Leon, D., Ozelius, L.J., Kramer, P., Almasy, L., Singer, B., Fahn, S., Breakefield, X.O. and Bressman, S. (1995) Genetic analysis of idiopathic torsion dystonia of Ashkenazim for a small founder population. Nature Genet., 9, 152-159.
18. Ross, C.A. (1997) Intranuclear neuronal inclusions: a common pathogenic mechanism for glutamine-repeat neurodegenerative diseases? Neuron, 19, 1147-1150.
19. Goedert, M., Spillantini, M.G. and Daview, S.W. (1998) Filamentous nerve cell inclusions in neurodegenerative diseases. Curr. Opin. Neurobiol., 8, 619-632.
20. Alves-Rodrigues, A., Gregori, L. and Figueredo-Pereira, M.E. (1998) Ubiquitin, cellular inclusions and their role in neurodegeneration. Trends Neurosci., 21, 516-520.
21. Zeman, W. and Dyken, P. (1967) Dystonia musculorum deformans: clinical, genetic and patho-anatomical studies. Psychiatr. Neurol. Neurochir., 10, 77-121.
22. Hedreen, J.C., Zweig, R.M., DeLong, M.R., Whitehouse, P.J. and Price, D.L. (1988) Primary dystonias: A review of the pathology and suggestions for new directions of study. Adv. Neurol., 50, 123-132.
23. Brown, D. (1978) Fenestrae in the rough endoplasmic reticulum of Xenopus laevis hepatocytes. Anal. Rec., 191, 103-110.
24. Takei, K., Mignery, G.A., Mugnaini, E., Sudhof, T.C. and De Camilli, P. (1994) Inositol 1,4,5-trisphosphate receptor causes formation of ER asternal stacks in transfected fibroblasts and in cerebellar Purkinje cells. Neuron, 12, 327-342.
25. Neale, E.A., Moonen, G., MacDonald, R.L. and Nelson, P.G. (1982) Cerebellar macroneurons in microexplant cell culture: ultrastructural morphology. Neuroscience, 7, 1879-1890.
26. Hall, D.H., Gu, G., Garcia-Anoveros, J., Gong, L., Chalfie, M. and Driscoll, M. (1997) Neuropathology of degenerative cell death in Caenorhabditis elegans. J. Neurosci., 17, 1033-1045.
27. Kaufman, R.J. (1999) Stress signaling from the lumen of the endoplasmic reticulum: coordination of gene transcriptional and translational controls. Genes Dev., 13, 1211-1233.
28. Aridor, M. and Balch, W.E. (1999) Integration of endoplasmic reticulum signaling in health and disease. Nature Med., 5, 745-751.
29. Kaiser, C. and Ferro-Novick, S. (1998) Transport from the endoplasmic reticulum to the Golgi. Curr. Opin. Cell Biol., 10, 477-482.
30. Rothman, J.E. (1994) Mechanisms of intracellular protein transport. Nature, 372, 55-63.
31. El Far, O., O'Connor, V., Dresbach, T., Pellegrini, L., DeBello, W., Schweizer, F., Augustine, G., Heuss, C., Schafer, T., Charlton, M.P. and Betz, H. (1998) Protein interactions implicated in neurotransmitter release. J. Physiol., 92, 129-133.
32. Schweizer, F.E., Dresbach, T., DeBello, W.M., O'Connor, V., Augustine, G.J. and Betz, H. (1998) Regulation of neurotransmitter release kinetics by NSF. Science, 279, 1203-1206.
33. Hirokawa, N. (1998) Kinesin and dynein superfamily proteins and the mechanism of organelle transport. Science, 279, 519-526.
34. Sadee, W., Yu, V.C., Richards, M.L., Preis, P.N., Schwab, M.R., Brodsky, P.M. and Biedler, J.L. (1987) Expression of neurotransmitter receptors and myc protooncogenes in subclones of a human neuroblastoma cell line. Cancer Res., 47, 5207-5212.
35. Pear, W.S., Nolan, G.P., Scott, M.L. and Baltimore, D. (1993) Production of high-titer helper-free retroviruses by transient transfection. Proc. Natl Acad. Sci. USA, 90, 8392-8396.
36. Amano, T., Richelson, E. and Nirenberg, M. (1972) Neurotransmitter synthesis by neuroblastoma clones. Proc. Natl Acad. Sci. USA, 69, 258-263.
37. Akbasak, A., Oldfield, E.H. and Saris, S.C. (1991) Expression and modulation of major histocompatibility antigens on murine primary brain tumor in vitro. J. Neurosurg., 75, 922-929.
38. Qi, Y., Wang, J.K.T., McMillian, M. and Chikaraishi, D.M. (1997) Characterization of a CNS cell line, CAD, in which morphological differentiation is initiated by serum deprivation. J. Neurosci., 17, 1217-1225.
39. Smith, D.B. and Johnson, K.S. (1988) Single-step purification of polypeptides expressed in Escherichia coli as fusions with glutathione S-transferase. Gene, 61, 31-40.
40. Tam, J.P. (1988) Synthetic peptide vaccine design: synthesis and properties of a high-density multiple antigenic peptide system. Proc. Natl Acad. Sci. USA, 85, 5409-5413.
41. Gonzalez-Agosti, C., Xu, L., Pinney, D., Beauchamp, R., Hobbs, W., Gusella, J.F. and Ramesh, V. (1996) The merlin tumor suppressor localizes preferentially in membrane ruffles. Oncogene, 13, 1239-1247.
42. Olmsted, J.B. (1981) Affinity purification of antibodies from diazotized paper blots of heterogeneous protein samples. J. Biol. Chem., 256, 11955-11957.
43. Harlow, E. and Lane, D. (1988) Antibodies. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
44. Feany, M.B., Yee, A.C., Delvy, M.L. and Buckley, K.M. (1993) The synaptic vesicle proteins SV2, synaptotagmin and synaptophysin are sorted to separate cellular compartments in CHO fibroblasts. J. Cell Biol., 123, 575-584.
45. Farrari, D.M. and Söling, H.-D. (1999) The protein disulphide-isomerse family: unravelling a string of folds. Biochem. J., 339, 1-10.
46. Murakami, T., Ohtsuka, A. and Piao, D.X. (1996) Perineuronal sulfated proteoglycans in the human brain are identical to Golgi's reticular coating. Arch. Histol. Cytol., 59, 233-237.
47. Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 277, 680-685.