Pathogenesis of polyglutamine-induced disease: A model for SCA1

Molecular Genetics and Metabolism

Volumn 66, Issue 3, 1999, Pages 172-178

  Klement, Ivan A ^a   Zoghbi, Huda Y ^b   Orr, Harry T ^a,b,c  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

POLYGLUTAMIC ACID;

AMINO TERMINAL SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; APOPTOSIS; CARBOXY TERMINAL SEQUENCE; CONFORMATIONAL TRANSITION; GENE EXPRESSION; MOUSE; NONHUMAN; NUCLEOTIDE REPEAT; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN LOCALIZATION; PURKINJE CELL; SHORT SURVEY; SPINOCEREBELLAR DEGENERATION; TRANSGENIC MOUSE;

ANIMALIA; ATAXIA; MUS MUSCULUS;

EID: 0032812175     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2801     Document Type: Article

References (38)

1. Zoghbi H Y, Orr H T. Spinocerebellar ataxia type 1. Semin Cell Biol. 6:1995;29-35.
2. Orr H T, Chung M Y, Banfi S, Kwiatkowski T J, Servadio A, Beaudet A L, McCall A E, Duvick L A, Ranum L P, Zoghbi H Y. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 4:1993;221-226.
3. Banfi S A, Servadio M Y, Chung T J, Kwiatkowski J R, McCall A E, Duvick L A, Shen Y, Roth E J, Orr H T, Zoghbi H Y. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 7:1994;513-520.
4. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier J M, Weber C, Mandel J L, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 14:1996;285-291.
5. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet. 14:1996;277-284.
6. Pulst S M, Nechiporuk A, Nechiporuk T, Gispert S, Chen X N, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau G A, Auburger G, Korenberg J R, Figueroa C, Sahba S. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 14:1996;269-276.
7. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumi S, Kakizuka A. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 8:1994;221-228.
8. David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel J L, Brice A. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 17:1997;65-70.
9. Koob M D, Benzow K A, Bird T D, Day J W, Moseley M L, Ranum L P. Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Nat Genet. 18:1998;72-75.
10. Cell. 72:1993;971-783.
11. Servadio A, Koshy B, Armstrong D, Antalffy B, Orr H T, Zoghbi H Y. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet. 10:1995;94-98.
12. DiFiglia M, Sapp E, Chase K, Schwarz C, Meloni A, Young C, Martin E, Vonsattel J P, Carraway R, Reeves S A, Boyce F M, Aronin N. Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron. 14:1995;1075-1081.
13. Paulson H L, Das S S, Crino P B, Perez M K, Patel S C, Gotsdiner D, Fischbeck K H, Pittman R N. Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Ann Neurol. 41:1997;453-462.
14. Sharp A H, Loev S J, Schilling G, Li S H, Li X J, Bao J, Wagster M V, Kotzuk J A, Steiner J P, Lo A. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron. 14:1995;1065-1074.
15. Matilla A, Roberson E D, Banfi S, Morales J, Armstrong D L, Burright E N, Orr H T, Sweatt J D, Zoghbi H Y, Matzuk M M. Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. J Neurosci. 18:1998;5508-5516.
16. Nasir J, Floresco S B, O'Kusky J R, Diewert V M, Richman J M, Zeisler J, Borowski A, Marth J D, Phillips A G, Hayden M R. Targeted disruption of the Huntingtin's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell. 81:1995;811-823.
17. Duyao M P, Auerbach A B, Ryan A, Persichetti F, Barnes G T, Barnes G T, McNeil S M, Ge P, Vonsattel J P, Gusella J F, Joyner A L, MacDonald M E. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science. 269:1995;407.
18. Zeitlin S, Liu J P, Chapman D L, Papaioannou V E, Efstratiadis A. Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat Genet. 11:1995;155.
19. Fischbeck K H. Kennedy disease. J Inherit Metab Dis. 20:1997;152-158.
20. 1A. Nat Genet. 15:1997;62-69.
21. Matilla A, Koshy B T, Cummings C J, Isobe T, Orr H T, Zoghbi H Y. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature. 389:1997;974-978.
22. Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, Lawton M, Trottier Y, Lehrach H, Davies S W, Bates G P. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell. 87:1996;493-506.
23. Burright E N, Clark H B, Servadio A, Matilla T, Feddersen R M, Yunis W S, Duvick L A, Zoghbi H Y, Orr H T. SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell. 82:1995;937-948.
24. Clark H B, Burright E N, Yunis W S, Larson S, Wilcox C, Hartman B, Matilla A, Zoghbi H Y, Orr H T. Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J Neurosci. 17:1997;7385-7395.
25. 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. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell. 90:1997;537-548.
26. Skinner P J, Koshy B T, Cummings C J, Klement I A, Helin K, Servadio A, Zoghbi H Y, Orr H T. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature. 389:1997;971-974.
27. 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.
28. Scherzinger E, Lurz R, Turmaine M, Mangiarini L, Hollenbach B, Hasenband 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.
29. 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. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron. 19:1997;333-344.
30. Becher M W, Rubinsztein D C, Leggo J, Wagster M V, Stine O C, Ranen N G, Franz M L, Abbott M H, Sherr M, MacMillan J C, Barron L, Porteous M, Harper P S, Ross C A. Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees. Mov Disord. 12:1997;519-530.
31. Holmberg M, Duyckaerts C, Durr A, Cancel G, Gourfinkel-An I, Damier P, Faucheux B, Trottier Y, Hirsch E C, Agid Y, Brice A. Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet. 7:1998;913-918.
32. Li M, Mina S, Kodayoshi Y, Merry D E, Yomamoto M, Tonaka F, Doyu M, Hoshizume Y, Fishbeck K H, Sobue G. Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. Ann Neurol. 44:1998;249-254.
33. Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet. 13:1996;196-202.
34. Martindale, D, Hackam, A, Wieczorek, A, Ellergy, 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, 150, 154.
35. 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.
36. Burright E N, Davidson J D, Duvick L A, Koshy B, Zoghbi H Y, Orr H T. Identification of a self-association region within the SCA1 gene product, ataxin-1. Hum Mol Genet. 6:1997;513-518.
37. Klement I A, Skinner P J, Kaytor M D, Yi H, Herscch S M, Clark H B, Zoghbi H Y, Orr H T. Ataxin-nuclear localization and aggregation role in polyglutamine-induced disease in SCA1 transgenic mice. Cell. 95:1998;41-53.
38. Cummings C J, Mancini M A, Antalffy B, DeFranco D B, Orr H T, Zoghbi H Y. Chaperone suppression of ataxin-1 aggregation and altered subcellular proteosome localization imply protein misfolding in SCA1. Nat Genet. 19:1998;148-154.