An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients

Brain Pathology

Volumn 8, Issue 4, 1998, Pages 669-679

  Schmidt, Thorsten ^a   Bernhard Landwehrmeyer, G ^b   Schmitt, Ina ^a   Trottier, Yvon ^c   Auburger, Georg ^d   Laccone, Franco ^e   Klockgether, Thomas ^f   Völpel, Michael ^g   Epplen, Jörg T ^a   Schöls, Ludger ^h   Riess, Olaf ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

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

^d UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^e UNIVERSITY OF GÖTTINGEN   (Germany)

^f UNIVERSITY OF BONN   (Germany)

^g Klinikum Krefeid   (Germany)

^h ST JOSEF HOSPITAL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CEREBELLAR ATAXIA; CONTROLLED STUDY; GENE LOCATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; MACHADO JOSEPH DISEASE; NERVE DEGENERATION; NEUROPATHOLOGY; NUCLEOTIDE REPEAT; PROTEIN EXPRESSION;

EID: 7344234800     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.1998.tb00193.x     Document Type: Article

References (50)

1. Bradford A (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the prinziple of protein-dye binding. Analyt Biochem 72: 248-54
2. Burt T, Blumbergs P, Currie B (1993) A dominant hereditary ataxia resembling Machado-Joseph disease in Arnhem Land, Australia. Neurology 43: 1750-2
3. 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 JL, Brice A (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17: 65-70
4. Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangianni L, Bates GP (1997) Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90: 537-48
5. DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neuntes in brain. Science 277: 1990-3
6. Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, Chneiweiss H, Benomar A, Lyon CO, Julien J, Serdaru M, Penet C, Agid Y, Brice A (1996) Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 39: 490-9
7. Giunti P, Sweeney M G, Harding A E (1995) Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth. Brain 118: 1077-85
8. Goto J, Watanabe M, Ichikawa Y, Yee S B, Ihara N, Endo K, Igarashi S, Takiyama Y, Gaspar C, Maciel P, Tsuji S, Rouleau GA, Kanazawa I (1997) Machado-joseph-disease gene products carrying different carboxyl termini. Neurosci Res 28: 373-7
9. Green H (1993) Human genetic diseases due to codon reiteration: relationship to an evolutionary mechanism. Cell 74: 955-6
10. Hochstrasser M (1996) Ubiquitin-dependent protein degradation. Annu Rev Genet 30: 405-39
11. Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A (1996) Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo Nat Genet 13: 196-202
12. Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Gamier JM, Weber C, Mandel JL, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded cag/glutamine repeats. Nat Genet 14: 285-91
13. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Naru-miya S, Kakizuka A (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8: 221-8
14. Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6: 9-13
15. Laemmli, UK (1970) Cleavage of structural proteins during assembly of the head of bacteriophage T4. Nature 227: 680-5
16. Landwehrmeyer GB, McNeil SM, Dure LS, Ge P, Aizawa H, Huang Q, Ambrose CM, Duyao MP, Bird ED, Bonilla E, DeYoung M, Avita-Gonzales AJ, Wexler NS, DiFiglia M, Gusella JF, MacDonald ME, Penney JB, Young AB, Vonsattel JP (1995) Huntington's disease gene: regional and cellular expression in brain of normal and affected individuals. Ann Neurol 37: 218-30
17. LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck H (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352: 77-9
18. Matilla A, Koshy BT, Cummings C, Isobe T, Orr HT, Zoghbi HY (1997) The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature 389: 974-8
19. Matsumura R, Takayanagi T, Fujimoto Y, Murata K, Mano Y, Honkawa H, Chuma T (1996) The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease. J Neurol Sci 139: 52-7
20. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215
21. Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bunde M, Takeda T, Tadokoro K, Kondo I, Murayama N, Tanaka Y, Kikushima H, Umino K, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komure O, Takahashi M, Yoshizawa T, Kanazawa I, Yamada M (1994) Dentatorubral and pallidoiuysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 6: 14-8
22. Nakano KK, Dawson DM, Spence A (1972) Machado disease a hereditary ataxia in Portuguese immigrants to Massachusetts. Neurology 22: 49-55
23. Nishiyama K, Murayama S, Goto J, Watanabe M, Hashida H, Katayama S, Nomura Y, Nakamura S, Kanazawa I (1996) Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals. Ann Neurol 40: 776-81
24. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCail AE, Duvick LA, Ranum LP, Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4: 221-6
25. Paulson HL, Das SS, Crino PB, Perez MK, Patel SC, Gotsdiner D, Fischbeck KH, Pittman RN (1997) Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Ann Neurol 41: 453-62
26. Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, Vig P, Mandel JL, Fischbeck KH, Pittman RN (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19: 333-44
27. Penney JB, Vonsattel JP, Macdonald ME, Gusella JF, Myers RH (1997) Cag repeat number governs the development rate of pathology in huntingtons-disease. Annals of Neurology 41: 689-92
28. Perutz MF, Johnson T, Suzuki M, Finch JT (1994) Glutamine Repeats As Polar Zippers - Their Possible Role in Inherited Neurodegenerative Diseases. Proc Natl Acad Sci USA 91: 5355-58
29. Riess O, Schöls L, Bottger H, Nolte D, Vieira SA, Schimming C, Kreuz F, Macek MJ, Krebsova A, Macek MS, Klockgether T, Zuhlke C, Laccone FA (1997) SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene. Hum Mol Genet 6: 1289-93
30. Robitaille Y, Lopescendes I, Becher M, Rouleau G, Clark AW (1997) The neuropathology of CAG repeat diseases -review and update of genetic and molecular features Brain Pathology 7: 901-26
31. Robitaille Y, Schut L, Kish SJ (1995) Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype. Acta Neuropathol (Bed) 90: 572-81
32. Rosenberg RN (1992) Machado-Joseph disease, an autosomat dominant motor system degeneration. Mov Disord 7: 193-203
33. Rosenberg RN, Nyhan WL, Bay C (1976) Autosomal dominant striatonigral degeneration: a clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 26: 703-14
34. Scherzinger E, Lurz R, Turmaine M, Mangianni L, Hollenbach B, Hasenbank R, Bates GP, Davies SW, Lehrach H, Wanker EE (1997) Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90: 549-58
35. Schmitt I, Brattig T, Gossen M, Riess O (1997) Characterization of the rat spinocerebellar ataxia type 3 gene. Neurogenetics 1: 103-12
36. Schöls L, Vieira-Saecker A.M.M, Schöls S, Przuntek H, Epplen J T, Riess O (1995) Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. Hum Mol Genet 4: 1001-5
37. Schöls L, Amoiridis G, Buttner T, Przuntek H, Epplen JT, Riess O (1997) Autosomal dominant cerebellar ataxia -phenotypic differences in genetically defined subtypes. Ann Neurol 42: 924-32
38. Schöls L, Amoiridis G, Epplen JT Langkafel M, Przuntek H, Riess O (1996) Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation. J Neurol Neurosurg Psychiatry 61: 466-70
39. Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helm K, Servadio A, Zoghbi HY, Orr HT (1997) Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 389: 971-74
40. Stevanin G, Le GE, Ravise N, Chneiweiss H, Durr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C, Pothin Y, Lagroua I, Haguenau M, Rancurel G, Weissenbach J, Agid Y, Brice A (1994) A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 54: 11-20
41. Stevanin G, Lebre AS, Mathieux C, Cancel G, Abbas N, Didierjean O, Durr A, Trottier Y, Agid Y, Brice A (1997) Linkage disequilibrium between the spinocerebeliar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon. Am J Hum Genet 60: 1548-52
42. Stott K, Blackburn JM, Butler PJ, Perutz M (1995) Incorporation of glutamine repeats makes protein oligomerize: implications for neurodegenerative diseases. Proc Natl Acad Sci USA 92: 6509-13
43. Takiyama Y, Oyanagi S, Kawashima S, Sakamoto H, Saito K, Yoshida M, Tsuji S, Mizuno Y, Nishizawa M (1994) A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 44: 1302-8
44. The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72: 971-83
45. Towbin, H, Staehelin, T, Gordon, J (1979) Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications. Proc Natl Acad Sci USA 76: 4350-54
46. Trottier Y, Lutz Y, Stevantn G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L, Agid Y, Brice A, Mandel JL (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378: 403-6
47. Wang G, Ide K, Nukina N, Goto J, Ichikawa Y, Uchida K, Sakamoto T Kanazawa I (1997) Machado-Joseph disease gene product identified in lymphocytes and brain. Biochem Biophys Res Commun 233: 476-79
48. Woods BI, Schaumburg HH (1972) Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clmicopathological entity. J Neurol Sci 17: 149-66
49. Zhou YX, Takiyama Y, Igarashi S, Li YF, Zhou BY, Gui DC, Endo K, Tanaka H, Chen ZH, Zhou LS, Fan MZ, Yang BX, Weissenbach J, Wang GX, Tsuji S (1997) Machado-Joseph disease in four Chinese pedigrees - molecular analysis of 15 patients including two juvenile cases and clinical correlations. Neurology 48: 482-85
50. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 15: 62-9