Properties of polyglutamine expansion in vitro and in a cellular model for Huntington's disease

Philosophical Transactions of the Royal Society B: Biological Sciences

Volumn 354, Issue 1386, 1999, Pages 1013-1019

  Lunkes, Astrid ^a   Trottier, Yvon ^a   Fagart, Jerôme ^a   Schultz, Patrick ^b   Zeder Lutz, Gabrielle ^c   Moras, Dino ^a   Mandel, Jean Louis ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c INSTITUT DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

Aggregation; Cellular model; Huntington's disease; Nuclear inclusion; Pathological epitope; Polyglutamine expansion

Indexed keywords

ANIMALIA; MUS MUSCULUS;

EID: 0033614775     PISSN: 09628436     EISSN: None     Source Type: Journal    
DOI: 10.1098/rstb.1999.0453     Document Type: Article

References (38)

1. Becher, M. W., Kotzuk, J. A., Sharp, A. H., Davies, S. W., Bates, G. P., Price, D. L. & Ross, C. A. 1998 Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length. Neurobiol. Dis. 4, 387-397.
2. Butler, R., Leigh, P. N., McPhaul, J. & Gallo, J.-M. 1998 Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy. Hum. Mol. Genet. 7, 121-127.
3. Cooper, J. K. (and 12 others) 1998 Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture. Hum. Mol. Genet. 7, 783-790.
4. Davies, S. W., Turmaine, M., Cozens, B. A., DiFiglia, M., Sharp, A. H., Ross, C. A., Scherzinger, E., Wanker, E. E., Mangiarini, L. & Bates, G. P. 1997 Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90, 537-548.
5. DiFiglia, M., Sapp, E., Chase, K. O., Davies, S.W., Bates, G. P., Vonsattel, J. P. & Aronin, N. 1997 Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277, 1990-1993.
6. Fraser, R. A., Rossignol, M., Heard, D. H., Egly, J.-M. & Chambon, P. 1997 SUG1, a putative transcriptional mediator and subunit of the PA700 proteasome regulatory complex, is a DNA helicase. J. Biol. Chem. 272, 7122-7126.
7. Goldberg, Y. P. (and 10 others) 1996 Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract, Nature Genet. 13, 442-449.
8. Gossen, M., Freundlieb, S., Bender, G., Mueller, G., Hillen, W. & Bujard, H. 1995 Transcriptional activation by tetracycline in mammalian cells. Science 268, 1766-1769.
9. Gostout, B., Liu, Q. & Sommer, S. S. 1993 'Cryptic' repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes. Am. J. Hum. Genet. 52, 1182-1190.
10. Igarashi, S. (and 18 others) 1998 Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nature Genet. 18, 111-117.
11. Imbert, G., Trottier, Y, Beckman, J. & Mandel, J.-L. 1994 The gene for the TATA-binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27. Genomics 21, 667-668.
12. Imbert, G. (and 14 others) 1996 Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet. 13, 285-291.
13. Klement, I. A., Skinner, P. J., Kaytor, M. D., Yi, H., Hersch, S. M., Clark, H. B., Zoghbi, H. Y. & Orr, H. T. 1998 Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 95, 41-53.
14. Lescure, A., Lutz, Y, Eberhard, D., Jacq, X., Krol, A., Grummt, I., Davidson, I., Chambon, P. & Tora, L. 1995 The N-terminal domain of the human TATA-binding protein plays a role in transcription from TATA-containing RNA polymerase II and III promoters. EMBO J. 13, 1166-1175.
15. Li, S.-H. & Li, X.-J. 1998 Aggregation of N-terminal huntingtin is dependent on the length of its glutamine repeats. Hum. Mol. Genet. 7, 777-782.
16. Lopes-Cendes, I., Gaspar, C., Trottier, Y, Mandel, J.-L.. & Rouleau, G. A. 1996 Searching for proteins containing polyglutamine expansions in a large group of spinocerebellar ataxia patients. Am. Soc. Hum. Genet. A 59 (Abstract).
17. Lunkes, A. & Mandel, J.-L. 1998 A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum. Mol. Genet. 7, 1355-1361.
18. Mangiarini, L. (and 10 others) 1996 Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87, 493-506.
19. Martindale, D. (and 12 others) 1998 Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nature Genet. 18, 150-154.
20. Merry, D. E., Kobayashi, Y, Bailey, C. K., Taye, A. A. & Fischbeck, K. H. 1998 Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy. Hum. Mol. Genet. 7, 693-701.
21. Myszka, D. G. 1997 Kinetic analysis of macromolecular interactions using surface plasmon resonance biosensors. Curr. Opin. Biotechnol. 8, 50-57.
22. Nelson, P., Clifford, C. & Nirenberg, M. 1976 Synapse formation between clonal neuroblastoma x glioma hybrid cells and striated muscle cells. Proc. Natl Acad. Sci. USA 73, 123-127.
23. Nielsen, J. E, Koefoed, P., Abell, K., Hasholt, E., Eiberg, H., Fenger, K, Niebuhr, E. & Sorensen, S. A. 1998 CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21 p24. Hum. Mol. Genet. 6, 1811-1816.
24. Onodera, O., Roses, A. D., Tsuji, S., Vance, J. M., Strittmatter, W. J. & Burke, J. R. 1996 Toxicity of expanded polyglutamine-domain proteins in Escherichia coli. FEBS Lett. 399, 135-139.
25. Paulson, H. L. & Fischbeck, K. H. 1996 Trinucleotide repeats in neurogenetic disorders. A. Rev. Neurosci. 19, 79-107.
26. Paulson, H. L., Perez, M. K., Trottier, Y., Trojanowski, J. Q., Subramony, S. H., Das, S. S., Vig, P., Mandel, J. L., Fischbeck, K. H. & Pittman, R. N. 1997 Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19, 333-344.
27. Perutz, M. F., Johnson, T., Suzuki, M. & Finch, J. T. 1994 Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc. Natl Acad. Sci. USA 91, 5355-5358.
28. Ross, C. A., McInnis, M. G., Margolis, R. L. & Li, S.-H. 1993 Genes with triplets: candidate mediators of neuropsychiatric disorders. Trends Neurosci. 16, 251-260.
29. Saudou, F., Finkbeiner, S., Devys, D. & Greenberg, M. E. 1998 Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 95, 55-66.
30. Scherzinger, E., Lurz, R., Turmaine, M., Mangiarini, L., Hollenbach, B., Hasenbank, R., Bates, G. P., Davies, S. W., Lehrach, H. & Wanker, E. E. 1997 Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90, 549-558.
31. Skinner, P. J., Koshy, B., Cummings, C. J., Klement, I. A., Helin, K., Servadio, A., Zoghbi, H. Y. & Orr, H. T. 1997 SCA1 pathogenesis involves allevations in nuclear matrix associated structures. Nature 389, 971-974.
32. Stevanin, G. (and 17 others) 1996 Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Hum. Mol. Genet. 5, 1887-1892.
33. Trottier, Y. (and 12 others) 1995 Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378, 403-406.
34. Trottier, V., Zeder-Lutz, G. & Mandel, J.-L. 1998 Selective recognition of proteins with pathological polyglutamine tracts by a monoclonal antibody. In Genetic instabilities and hereditary neurological diseases (ed. R. D. Wells & S. T. Warren), pp. 447-453. San Diego: Academic Press.
35. Vom Baur, E., Zechel, C., Heery, D., Heine, M. J. S., Garnier, J. M., Vivat, V., Le Donarin, B., Gronemeyer, H., Chamhon, P. & Losson, R. 1996 Differential ligand-dependent interactions between the AF-2 activating domain of nuclear receptors and the putative transcriptional intermediary factors mSUG1 and TIF1. EMBO J. 15, 110-124.
36. Wells, R. D. & Warren, S. T. 1998 Genetic instabilities and hereditary neurological diseases. San Diego: Academic Press.
37. Wittekindt, O. (and 13 others) 1998 The human small conductance calcium-regulated potassium channel gene (hSKCa3) contains two CAG repeats in exon 1, is on chromosome 1q21.3, and shows a possible association with schizophrenia. Neurogenetics 1, 259-265.
38. Zoglibi, H. Y. 1997 CAG repeats in SCA6: anticipating new clues. Neurology 49, 1-5.