Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates

Nature Genetics

Volumn 18, Issue 2, 1998, Pages 150-154

  Martindale, Diane ^a   Hackam, Abigail ^a   Wieczorek, Andrew ^b   Ellerby, Lisa ^c,d   Wellington, Cheryl ^a   McCutcheon, Krista ^a   Singaraja, Roshni ^a   Kazemi Esfarjani, Parsa ^a   Devon, Richard ^e   Kim, Seung U ^a   Bredesen, Dale E ^c,d   Tufaro, Frank ^a,b   Hayden, Michael R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b NeuroVir   (Canada)

^c BURNHAM INSTITUTE   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF SASKATCHEWAN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

HUNTINGTIN;

APOPTOSIS; ARTICLE; CYTOARCHITECTURE; CYTOTOXICITY; DNA STRUCTURE; GENE LOCATION; HUNTINGTON CHOREA; PRIORITY JOURNAL; PROTEIN STRUCTURE; STRUCTURE ANALYSIS;

ANIMALS; CELL AGGREGATION; CELL LINE; CELL SURVIVAL; HAPLORHINI; HUMANS; HUNTINGTON DISEASE; MICE; MICE, TRANSGENIC; NERVE TISSUE PROTEINS; NEURONS; NUCLEAR PROTEINS; PEPTIDES; RECOMBINANT PROTEINS; TRANSFECTION;

EID: 17344363559     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0298-150     Document Type: Article

References (27)

1. 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).
2. Goldberg, Y.P. et al. Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Hum. Mol. Genet. 5, 177-185 (1996).
3. Mangiarini, L. et al. 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 (1996).
4. Goldberg, Y.P. et al. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nature Genet. 13, 442-449 (1996).
5. Ikeda, H. et al. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet. 13, 196-202 (1996).
6. Fraefel, C. et al. Helper virus-free transfer of Herpes Simplex Virus Type 1 plasmid vectors into neural cells. J. Virol. 70, 7190-7197 (1996).
7. Cunningham, C. & Davison, A.J. A cosmid-based system for constructing mutants of herpes simplex virus type 1. Virology 197, 116-124 (1993).
8. Tellez-Nagel, I., Johnson, A.B. & Terry, R.D. Ultrastructural and histochemical study of cerebral biopsies in Huntington's chorea. Adv. Neurol. 1, 387-397 (1973).
9. Tellez-Nagel, I., Johnson, A.B. & Terry, R.D. Studies on brain biopsies of patients with Huntington's chorea. J. Neuropath. Exper. Neurol. 33, 308-332 (1974).
10. Davies, S.W. et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90, 537-548 (1997).
11. DiFiglia, M. et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277, 199-1993 (1997).
12. Sapp, E. et al. Huntingtin localization in brains of normal and Huntington's disease patients. Ann. Neurol. 23, 2247-2255 (1997).
13. Palombella, V.J., Rando, O.J., Goldberg, A.L. & Maniatis, T. The ubiquitin-proteosome pathway is required for processing the NF-(B1 precursor protein and the activation of NF-Kβ. Cell 78, 773-785 (1994).
14. Johnson, P.R. & Hochstrasser, M. SUMO-1: ubiquitin gains weight. Trends Cell Biol. 7, 408-413 (1997).
15. Kalchman, M.A. et al. Huntingtin is ubiquitinated and interacts with a specific ubiquitin conjugated enzyme. J. Biol. Chem. 271, 19385-19394 (1996).
16. Scherzinger, E. et al. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90, 549-558 (1997).
17. 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).
18. Perutz, M.F. Glutamine repeats and inherited neurodegenerative diseases: molecular aspects. Curr. Opin. Struct. Biol. 6, 848-858 (1996).
19. Paulson, H.L. et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19, 333-334 (1997).
20. Igarashi, S. et al. 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 (1998).
21. Wellington, C.L. & Hayden, M.R. Of molecular interactions, mice and mechanisms: new insights into Huntington's disease. Curr. Opin. Neurol. 10, 291-298 (1997).
22. Jordan, M., Schallhorn, A. & Wurm, F.M. Transfecting mammalian cells: optimization of critical parameters affecting calcium-phosphate precipitate formation. Nuceic Acids Res. 24, 596-601 (1996).
23. Kalchman, M.A. et al. HIP1, a human homolog of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nature Genet. 16, 44-53 (1997).
24. Mosmann, T. Rapid colorimetric assay for cellular growth and survival: application to proliferation and cytotoxicity assays. J. Immunol. Methods 65, 55-63 (1983).
25. Carmichael, J. et al. Evaluation of a tetrazolium-based semiautomated colorimetric assay: assessment of chemosensitivity testing. Cancer Res. 47, 936-942 (1987).
26. Vistica, D.T. et al. Tetrazolium-based assays for cellular viability: a critical examination of selected parameters affecting formazan production. Cancer Res. 51, 2515-2520 (1991).
27. Couldwell, W.T. et al. Protein kinase C inhibitors induce apoptosis in human malignant glioma cell lines. FEBS Lett. 345, 43-46 (1994).