Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo (original) (raw)

• Kawaguchi, Y. et al. GAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8, 221–228 (1994).
  Article CAS PubMed Google Scholar
• 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).
  Article CAS PubMed Google Scholar
• 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).
  Article Google Scholar
• Orr, H.T. et al. Expansion of an unstable trinucleotide GAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221–226 (1993).
  Article CAS PubMed Google Scholar
• Koide, R. et al. Unstable expansion of GAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9–13 (1994).
  Article CAS PubMed Google Scholar
• Nagafuchi, S. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable GAG trinucleotide on chromosome 12p. Nature Genet. 6, 14–18 (1994).
  Article CAS PubMed Google Scholar
• Willems, R.J. Dynamic mutations hit double figures. Nature Genet 8, 213–215 (1994).
  Article CAS PubMed Google Scholar
• Housman, D. Gain of glutamines, gain of function? Nature Genet. 10, 3–4 (1995).
  Article CAS PubMed Google Scholar
• Maruyama, H. et al. Molecular features of the GAG repeats and clinical manifestation of Machado-Joseph disease. Hum. Mol. Genet. 4, 807–812 (1995).
  Article CAS PubMed Google Scholar
• 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).
  Article CAS PubMed Google Scholar
• Sharp, A.H. et al. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 14, 1065–1074 (1995).
  Article CAS PubMed Google Scholar
• 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).
  Article CAS PubMed Google Scholar
• Yazawa, I. et al. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nature Genet. 10, 99–103 (1995).
  Article CAS PubMed Google Scholar
• Trottier, Y. et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378, 403–405 (1995).
  Article CAS PubMed Google Scholar
• Burright, E.N. et al. SCA1 transgenic mice: a model for neuro-degeneration caused by an expanded CAG trinucleotide repeat. Cell 82, 937–948 (1995).
  Article CAS PubMed Google Scholar
• 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).
  Article CAS PubMed Google Scholar
• Itoh, N. et al. The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis. Cell 66, 233–243 (1991).
  Article CAS PubMed Google Scholar
• Saitou, M., Narumiya, S. & Kakizuka, A. Alteration of a single amino acid residue in retinoic acid receptor causes dominant-negative phenotype. J. Bid. Chem. 269, 19101–19107 (1994).
  CAS Google Scholar
• Kawakami, H. et al. Unique features of the CAG repeats in Machado-Joseph disease. Nature Genet. 9, 344–345 (1995).
  Article CAS PubMed Google Scholar
• 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).
  Article CAS PubMed Google Scholar
• 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).
  Article CAS PubMed Google Scholar
• Smeyne, R.J. et al. Dynamic organization of developing Purkinje cells revealed by transgene expression. Science 254, 719–721 (1991).
  Article CAS PubMed Google Scholar
• 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).
  Article CAS PubMed Google Scholar
• Eadie, M.J. Cerebello-olivary atrophy (Holmes type). in Handbook of Clinical Neurology, vol. 20 (eds Vinken, RJ. & Bruyn, G.W.) 403–413 (Amsterdam: North-Holland Publishing Company, 1975).
  Google Scholar
• Ross, C.A. When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 15, 493–496 (1995).
  Article CAS PubMed Google Scholar
• Citron, M., Teplow, D.B. & Selkoe, D.J. Generation of amyloid β protein from its precursor is sequence specific. Neuron 14, 661–670 (1995).
  Article CAS PubMed Google Scholar
• 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).
  Article CAS PubMed Google Scholar
• Goldgaber, D. et al. Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. Science 235, 877–880 (1987).
  Article CAS PubMed Google Scholar
• Kang, J. et al. The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor. Nature 325, 733–736 (1987).
  Article CAS PubMed Google Scholar
• Alzheimer, A. Über eine eigenatige Erkrankung der Hirnrinde. Zbl Nervenheik 30, 177–179 (1907).
  Google Scholar
• Mayeux, R. & Chun, M.R. Acquired and hereditary dementias. in Merritt's Textbook of Neurology, 9th edn. (ed. Rowland, L.R) (Baltimore: Williams &Wilkins, 1995).
  Google Scholar
• Green, H. Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 74, 955–956 (1993).
  Article CAS PubMed Google Scholar
• Chou, P.Y. & Fasman, G.D. Prediction of the secondary structure of proteins from their amino acid sequence. Adv. Enzymol. 47, 45–148 (1978).
  CAS PubMed Google Scholar
• 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).
  Article CAS PubMed PubMed Central Google Scholar
• Prusiner, S.B. & Hsiao, K.K. Human prion diseases. Ann. Neurol. 35, 385–395 (1994).
  Article CAS PubMed Google Scholar
• Pan, K.-M. et al. Conversion of a-helices into (β-sheets features in the formation of the scrapie prion proteins. Proc. Natl. Acad. Sci. USA 90, 10962–10966 (1993).
  Article CAS PubMed PubMed Central Google Scholar
• 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).
  Article CAS PubMed Google Scholar
• 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).
  Article CAS PubMed PubMed Central Google Scholar
• Kozak, M. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucl. Acids Res. 15, 8125–8148 (1987).
  Article CAS PubMed PubMed Central Google Scholar
• 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).
  Article CAS PubMed PubMed Central Google Scholar
• 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).
  CAS PubMed Google Scholar
• 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).
  CAS PubMed Google Scholar
• 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).
  CAS PubMed Google Scholar
• 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).
  Article CAS PubMed PubMed Central Google Scholar
• Saitou, M. et al. Inhibition of skin development by targeted expression of a dominant-negative retinoic acid receptor. Nature 374, 159–162 (1995).
  Article CAS PubMed Google Scholar
• Mizushima, S. & Nagata, S. pEF-BOS, a powerful mammalian expression vector. Nucl. Acids Res. 18, 5322 (1990).
  Article CAS PubMed PubMed Central Google Scholar
• Dyck, J.A. et al. A novel macromolecular structure is a target of the promyelocyte-retinoic acid receptor oncoprotein. Cell 76, 333–343 (1994).
  Article CAS PubMed Google Scholar
• 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).
  Article CAS PubMed PubMed Central Google Scholar
• Rösl, F. A simple and rapid method for detection of apoptosis in human cells.Nucl. Acids Res. 20, 5243 (1992).
  Article PubMed PubMed Central Google Scholar
• Vandaele, S. et al. Purkinje cell protein-2 regulatory regions and transgene expression in cerebellar compartments. Genes Dev. 5, 1136–1148 (1991).
  Article CAS PubMed Google Scholar
• Kakizuka, A. et al. A mouse cdc25 homolog is differentially and developmental expressed. Genes Dev. 6, 578–590 (1992).
  Article CAS PubMed Google Scholar
• 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).
  Chapter Google Scholar