Mutant huntingtin forms in vivo complexes with distinct context- dependent conformations of the polyglutamine segment

Neurobiology of Disease

Volumn 6, Issue 5, 1999, Pages 364-375

  Persichetti, Francesca ^a   Trettel, Flavia ^a   Huang, C Chris ^a   Fraefel, Cornel ^a   Timmers, H T Marc ^b   Gusella, James F ^a   MacDonald, Marcy E ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UTRECHT UNIVERSITY   (Netherlands)

Author keywords

1F8 mAb; Aggregation; Huntingtin; Huntington's disease; Polyglutamine

Indexed keywords

GLUTAMINE DERIVATIVE; HUNTINGTIN; MONOCLONAL ANTIBODY; MUTANT PROTEIN;

AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; COMPLEX FORMATION; CONFORMATIONAL TRANSITION; FETUS; HUNTINGTON CHOREA; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN CONFORMATION; PROTEIN STRUCTURE; RAT; SOLUBILITY;

EID: 0032728305     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1006/nbdi.1999.0260     Document Type: Article

References (34)

1. Becher M. W., Kotzuk J. A., Sharp A. H., Davies S. W., Bates G. P., Price D. L., Ross C. A. 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. 4:1998;387-397.
2. Cooper A. J., Sheu K. F., Burke J. R., Onodera O., Strittmatter W. J., Roses A. D., Blass J. P. Polyglutamine domains are substrates of tissue transglutaminase: Does transglutaminase play a role in expanded CAG/poly-Q neurodegenerative diseases. J. Neurochem. 69:1997;431-434.
3. Cooper J. K., Schilling G., Peters M. F., Herring W. J., Sharp A. H., Kaminsky Z., Masone J., Khan F. A., Delanoy M., Borchelt D. R., Dawson V. L., Dawson T. M., Ross C. A. Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture. Hum. Mol. Genet. 7:1998;783-790.
4. Cunningham C., Davison A. J. A cosmid-based system for constructing mutants of herpes simplex virus type 1. Virology. 197:1993;116-124.
5. DiFiglia M., Sapp E., Chase K. O., Davies S. W., Bates G. P., Vonsattel J. P., Aronin N. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science. 277:1997;1990-1993.
6. Faber P. W., Barnes G. T., Srinidhi J., Chen J., Gusella J. F., MacDonald M. E. Huntingtin interacts with a family of WW domain proteins. Hum. Mol. Genet. 7:1998;1463-1474.
7. Fraefel C., Song S., Lim F., Lang P., Yu L., Wang Y., Wild P., Geller A. I. Helper virus-free transfer of herpes simplex virus type 1 plasmid vectors into neural cells. J. Virol. 70:1996;7190-7197.
8. Gentile V., Sepe C., Calvani M., Melone M. A., Cotrufo R., Cooper A. J., Blass J. P., Peluso G. Tissue transglutaminase-catalyzed formation of high-molecular-weight aggregates in vitro is favored with long polyglutamine domains: A possible mechanism contributing to CAG-triplet diseases. Arch. Biochem. Biophys. 352:1998;314-321.
9. Green H. Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism. Cell. 74:1993;955-956.
10. Gusella J. F., MacDonald M. E. Huntington's disease: CAG genetics expands neurobiology. Cur. Opin. Neurobiol. 5:1995;656-662.
11. Gusella J. F., Persichetti F., MacDonald M. E. The genetic defect causing Huntington's disease: Repeated in other contexts. Mol. Med. 3:1997;238-246.
12. Hackam A. S., Singaraja R., Wellington C. L., Metzler M., McCutcheon K., Zhang T., Kalchman M., Hayden M. R. The influence of huntingtin protein size on nuclear localization and cellular toxicity. J. Cell. Biol. 141:1998;1097-1105.
13. Huang C. C., Faber P. W., Persichetti F., Mittal V., Vonsattel J. P., MacDonald M. E., Gusella J. F. Amyloid formation by mutant huntingtin: Threshold, progressivity and recruitment of normal polyglutamine proteins. Som. Cell Molec. Genet. 1998.
14. Cell. 72:1993;971-983.
15. Johnston J. A., Ward C. L., Kopito R. R. Aggresomes: A cellular response to misfolded proteins. J. Cell. Biol. 143:1998;1883-1898.
16. Kahlem P., Terre C., Green H., Djian P. Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: Relevance to diseases of the nervous system. Pro. Natl. Acad. Sci. USA. 93:1996;14580-14585.
17. Kahlem P., Green H., Djian P. Transglutaminase action imitates Huntington's disease: Selective polymerization of Huntingtin containing expanded polyglutamine. Mol. Cell. 1:1998;595-601.
18. Kim M., Lee H. S., LaForet G., McIntyre C., Martin E. J., Chang P., Kim T. W., Williams M., Reddy P. H., Tagle D., Boyce F. M., Won L., Heller A., Aronin N., DiFiglia M. Mutant huntingtin expression in clonal striatal cells: Dissociation of inclusion formation and neuronal survival by caspase inhibition. J. Neurosci. 19:1999;964-973.
19. Konradi C., Leveque J. C., Hyman S. E. Amphetamine and dopamine-induced immediate early gene expression in striatal neurons depends on postsynaptic NMDA receptors and calcium. J. Neurosci. 16:1996;4231-4239.
20. Li S. H., Li X. J. Aggregation of N-terminal huntingtin is dependent on the length of its glutamine repeats. Hum. Mol. Genet. 7:1998;777-782.
21. Lim F., Hartley D., Starr P., Lang P., Song S., Yu L., Wang Y., Geller A. I. Generation of high-titer defective HSV-1 vectors using an IE 2 deletion mutant and quantitative study of expression in cultured cortical cells. BioTechniques. 20:1996;460-469.
22. Lunkes A., Mandel J. L. A cellular model that recapitulates major pathogenic steps of Huntington's disease. Hum. Mol. Genet. 7:1998;1355-1361.
23. Martindale D., Hackam A., Wieczorek A., Ellerby L., Wellington C., McCutcheon K., Singaraja R., Kazemi-Esfarjani P., Devon R., Kim S. U., Bredesen D. E., Tufaro F., Hayden M. R. Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat. Genet. 18:1998;150-154.
24. McNeil S. M., Novelletto A., Srinidhi J., Barnes G., Kornbluth I., Altherr M. R., Wasmuth J. J., Gusella J. F., MacDonald M. E., Myers R. H. Reduced penetrance of the Huntington's disease mutation. Hum. Mol. Genet. 6:1997;775-779.
25. Persichetti F., Carlee L., Faber P. W., McNeil S. M., Ambrose C. M., Srinidhi J., Anderson M., Barnes G. T., Gusella J. F., MacDonald M. E. Differential expression of normal and mutant Huntington's disease gene alleles. Neurobiol. Dis. 3:1996;183-190.
26. 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. 91:1994;5355-5358.
27. Ross C. A. Intranuclear neuronal inclusions: a common pathogenic mechanism for glutamine-repeat neurodegenerative diseases. Neuron. 19:1997;1147-1150.
28. Rubinsztein D. C., Leggo J., Coles R., Almqvist E., Biancalana V., Cassiman J. J., Chotai K., Connarty M., Crauford D., Curtis A., Davidson M. J., Differ A. M., Dode C., Dodge A., Frontali M., Ranen N. G., Stine O. C., Sherr M., Abbot M. H., Franz M. L., Graham C. A., Harper P. S., Hedreen J. C., Jackson A., Kaplan J. C., Losekoot M., MacMillan J. C., Morrison P., Trottier Y., Novelletto A., Simpson S. A., Theilmann J., Whittaker J. L., Folstein S. E., Ross C. A., Hayden M. R. Phenotypic characterization of individuals with 30-40 repeats in the Huntington disease (HD) cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am. J. Hum. Genet. 59:1996;16-22.
29. Saudou F., Finkbeiner S., Devys D., Greenberg M. E. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell. 95:1998;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. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell. 90:1997;549-558.
31. Sieradzan K. A., Mechan A. O., Jones L., Wanker E. E., Nukina N., Mann D. M. Huntington's disease intranuclear inclusions contain truncated, ubiquitnated huntingtin protein. Exp. Neurol. 156:1999;92-99.
32. Trottier Y., Devys D., Imbert G., Saudou F., An I., Lutz Y., Weber C., Agid Y., Hirsch E. C., Mandel J. L. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genet. 10:1995;104-110.
33. Warner J. P., Barron L. H., Brock D. J. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol. Cell. Probes. 7:1993;235-239.
34. White J. K., Auerbach W., Duyao M. P., Vonsattel J. P., Gusella J. F., Joyner A. L., MacDonald M. E. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nature Genet. 17:1997;404-410.