Expanded polyglutamine in the machado-joseph disease protein induces cell death in vitro and in vivo

Nature Genetics

Volumn 13, Issue 2, 1996, Pages 196-202

  Ikeda, Hanako ^a   Yamaguchi, Masahiro ^a   Sugai, Satoshi ^b   Aze, Yoshiya ^b   Narumiya, Shuh ^a   Kakizuka, Akira ^a  

^a KYOTO UNIVERSITY FACULTY OF MEDICINE   (Japan)

^b ONO PHARMACEUTICAL CO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

POLYGLUTAMIC ACID;

ANIMAL CELL; APOPTOSIS; ARTICLE; CELL DEATH; MACHADO JOSEPH DISEASE; NERVE DEGENERATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PURKINJE CELL;

ANIMALS; ANIMALS, NEWBORN; APOPTOSIS; BLOTTING, WESTERN; CELLS, CULTURED; CEREBELLUM; GENE DOSAGE; HAPLORHINI; HUMANS; IMMUNOHISTOCHEMISTRY; KIDNEY; MACHADO-JOSEPH DISEASE; MICE; MICE, TRANSGENIC; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEPTIDE BIOSYNTHESIS; PEPTIDES; PRECIPITATION; PROTEIN BIOSYNTHESIS; PROTEINS; PURKINJE CELLS; RECOMBINANT PROTEINS; REPRESSOR PROTEINS; TRANSCRIPTION FACTORS; TRANSFECTION; TRINUCLEOTIDE REPEATS;

ANIMALIA; MUS MUSCULUS;

EID: 0030058208     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0696-196     Document Type: Article

References (52)

1. Kawaguchi, Y. et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8, 221-228 (1994).
2. La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. & Fischbeck, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79 (1991).
3. Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983 (1993).
4. Orr, H.T. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
5. Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9-13 (1994).
6. Nagafuchi, S. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 6, 14-18 (1994).
7. Willems, P.J. Dynamic mutations hit double figures. Nature Genet. 8, 213-215 (1994).
8. Housman, D. Gain of glutamines, gain of function? Nature Genet. 10, 3-4 (1995).
9. Maruyama, H. et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum. Mol. Genet. 4, 807-812 (1995).
10. Trottier, Y. et al. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genet. 10, 104-110 (1995).
11. Sharp, A.H. et al. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 14,1065-1074 (1995).
12. Servadio, A. et al. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genet. 10, 94-98 (1995).
13. Yazawa, I. et al. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nature Genet. 10, 99-103 (1995).
14. Trottier, Y. et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378, 403-405 (1995).
15. Burright, E.N. et al. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82, 937-948 (1995).
16. Yonehara, S., Ishii, A. & Yonehara, M. A cell-killing monoclonal antibody (anti-Fas) to a cell surface antigen co-downregulated with the receptor of tumor necrosis factor. J. Exp. Med. 169, 1747-1756 (1989).
17. Itoh, N. et al. The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis. Cell 66, 233-243 (1991).
18. Saitou, M., Narumiya, S. & Kakizuka, A. Alteration of a single amino acid residue in retinoic acid receptor causes dominant-negative phenotype. J. Biol. Chem. 269, 19101-19107 (1994).
19. Kawakami, H. et al. Unique features of the CAG repeats in Machado-Joseph disease. Nature Genet. 9, 344-345 (1995).
20. Takiyama, Y. et al. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum. Mol. Genet. 4, 1137-1146 (1995).
21. Oberdick, J., Levinthal, F. & Levinthal, C. A Purkinje cell differentiation marker shows a partial DNA sequence homology to the cellular sis/PDGF2 gene. Neuron 1, 367-376 (1988).
22. Smeyne, R.J. et al. Dynamic organization of developing Purkinje cells revealed by transgene expression. Science 254, 719-721 (1991).
23. Bingham, P.M. et al. Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genet. 9, 191-196 (1995).
24. Eadie, M.J. Cerebello-olivary atrophy (Holmes type), in Handbook of Clinical Neurology, vol. 20 (eds Vinken, P.J. & Bruyn, G.W.) 403-413 (Amsterdam: North-Holland Publishing Company, 1975).
25. Ross, C.A. When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 15, 493-496 (1995).
26. Citron, M., Teplow, D.B. & Selkoe, D.J. Generation of amyloid β protein from its precursor is sequence specific. Neuron 14, 661-670 (1995).
27. Glenner, G.G. & Wong, C.W. Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein. Biochem. Biophys. Res. Commun. 120, 885-890 (1984).
28. Goldgaber, D. et al. Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. Science 235, 877-880 (1987).
29. Kang, J. et al. The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature 325, 733-736 (1987).
30. Alzheimer, A. Über eine eigenatige Erkrankung der Hirnrinde. Zbl Nervenheik 30, 177-179 (1907).
31. Mayeux, R. & Chun, M.R. Acquired and hereditary dementias, in Merritt's Textbook of Neurology, 9th edn. (ed. Rowland, L.P.) (Baltimore: Williams & Wilkins, 1995).
32. Green, H. Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 74, 955-956 (1993).
33. Chou, P.Y. & Fasman, G.D. Prediction of the secondary structure of proteins from their amino acid sequence. Adv. Enzymol. 47, 45-148 (1978).
34. Perutz, M.F., Johnson, T., Suzuki, M. & Finch, J.T. Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc. Natl. Acad. Sci. USA 91, 5355-5358 (1994).
35. Prusiner, S.B. & Hsiao, K.K. Human prion diseases. Ann. Neurol. 35, 385-395 (1994).
36. Pan, K.-M. et al. Conversion of α-helices into β-sheets features in the formation of the scrapie prion proteins. Proc. Natl. Acad. Sci. USA 90, 10962-10966 (1993).
37. Kakizuka, A. et al. Chromosomal translocation t(15;17) in human acute promyelocytic leukemia fuses RARα with a novel putative transcription factor, PML. Cell 66, 663-674 (1991).
38. Umesono, K., Murakami, K.K., Thompson, C.C. & Evans, R.M. Direct repeats as selective response elements for the thyroid hormone, retinoic acid, and vitamin D3 receptors. Cell 65, 1255-1266 (1991).
39. Kozak, M. An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs. Nucl. Acids Res. 15, 8125-8148 (1987).
40. Field, J. et al. Purification of a RAS-responsive adenylyl cyclase complex from Saccharomyces cerevisiae by use of an epitope addition method. Mol. Cell. Biol. 8, 2159-2165 (1988).
41. Kakizuka, A., Kitamura, N. & Nakanishi, S. Localization of DNA sequences governing alternative mRNA production of rat kininogen genes. J. Biol. Chem. 263, 3884-3892 (1988).
42. Kakizuka, A., Ingi, T., Murai, T. & Nakanishi, S. A set of U1 snRNA-complementary sequences involved in governing alternative RNA splicing of the kininogen genes. J. Biol. Chem. 265, 10102-10108 (1990).
43. Yamaguchi, M. et al. Down-regulation of interleukin 6 receptors of mouse myelomonocytic leukemic cells by leukemia inhibitory factor. J. Biol. Chem. 267, 22035-22042 (1992).
44. Sanes, J.R., Rubenstein, J.L.R. & Nicolas, J.-F. Use of a recombinant retrovirus to study post-implantation cell lineage in mouse embryos. EMBO J. 5, 3133-3142 (1986).
45. Saitou, M. et al. Inhibition of skin development by targeted expression of a dominant-negative retinoic acid receptor. Nature 374, 159-162 (1995).
46. Mizushima, S. & Nagata, S. pEF-BOS, a powerful mammalian expression vector. Nucl. Acids Res. 18, 5322 (1990).
47. Dyck, J.A. et al. A novel macromolecular structure is a target of the promyelocyte-retinoic acid receptor oncoprotein. Cell 76, 333-343 (1994).
48. Ishida, Y., Agata, Y., Shibahara, K. & Honjo, T. Induced expression of PD-1, a novel member of the immunoglobulin gene superfamily, upon programmed cell death. EMBO J. 11, 3887-3895 (1992).
49. Rösl, F. A simple and rapid method for detection of apoptosis in human cells. Nucl. Acids Res. 20, 5243 (1992).
50. Vandaele, S. et al. Purkinje cell protein-2 regulatory regions and transgene expression in cerebellar compartments. Genes Dev. 5, 1136-1148 (1991).
51. Kakizuka, A. et al. A mouse cdc25 homolog is differentially and developmentally expressed. Genes Dev. 6, 578-590 (1992).
52. Gordon, J.W. Production of transgenic mice, in Guide to Techniques in Mouse Development (eds Wassarman, P.M. & DePamphilis, M.L.) 747-771 (San Diego: Academic, 1993).