DRPLA: Recent advances in research using transgenic mouse models

Methods in Molecular Biology

Volumn 1010, Issue , 2013, Pages 277-292

  Suzuki, Kazushi ^a   Sato, Toshiya ^b   Yamada, Mitsunori ^c   Takahashi, Hitoshi ^b   Tsuji, Shoji ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b NIIGATA UNIVERSITY   (Japan)

^c National Saigata Medical Center   (Japan)

Author keywords

DRPLA; Intergenerational instability of CAG repeats; Neuronal dysfunction; Neuronal intranuclear accumulation; Somatic instability of CAG repeats

Indexed keywords

MESSENGER RNA;

AGAR GEL ELECTROPHORESIS; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ASTROCYTOSIS; ATAXIA; BODY WEIGHT; BRAIN CORTEX; BRAIN STEM; BRAIN WEIGHT; CAG REPEAT; CONTROLLED STUDY; DENTATORUBROPALLIDOLUYSIAN ATROPHY; ELECTROPORATION; FEMALE; FERTILIZATION IN VITRO; GENE LIBRARY; GLOBUS PALLIDUS; HYBRIDIZATION; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; MALE; MOUSE; MYOCLONUS; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RED NUCLEUS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; TEGMENTUM; TRANSGENIC MOUSE; WEIGHT REDUCTION;

EID: 84880374282     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-62703-411-1_18     Document Type: Article

References (42)

1. Smith JK (1975) Dentatorubropallidoluysian atrophy, in Handbook of clinical neurology. North-Holland, Amsterdam, The Netherlands, pp 519-534
2. Smith JK, Gonda VE et al (1958) Unusual form of cerebellar ataxia; combined dentatorubral and pallido-Luysian degeneration. Neurology 8:205-209
3. Naito H, Izawa K et al (1972) Two families of progressive myoclonus epilepsy with Mendelian dominant heredity. Seishin Shinkeigaku Zasshi 74:871-897
4. Koide R, Ikeuchi T et al (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9-13
5. Nagafuchi S, Yanagisawa H et al (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 6:14-18
6. La Spada AR, Wilson EM et al (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77-79
7. 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 72:971-983
8. Orr HT, Chung MY et al (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221-226
9. Imbert G, Saudou F et al (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/ glutamine repeats. Nat Genet 14:285-291
10. Pulst SM, Nechiporuk A et al (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269-276
11. Sanpei K, Takano H et al (1996) Identi fication of the spinocerebellar ataxia type 2 gene using a direct identi fication of repeat expansion and cloning technique, DIRECT. Nat Genet 14:277-284
12. Kawaguchi Y, Okamoto T et al (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221-228
13. Zhuchenko O, Bailey J et al (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 15:62-69
14. Lindblad K, Savontaus ML et al (1996) An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res 6:965-971
15. David G, Abbas N et al (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17:65-70
16. Koide R, Kobayashi S et al (1999) A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease? Hum Mol Genet 8:2047-2053
17. Nakamura K, Jeong SY et al (2001) SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10:1441-1448
18. Komure O, Sano A et al (1995) DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45:143-149
19. David G, Durr A et al (1998) Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 7:165-170
20. Ikeuchi T, Koide R et al (1995) Dentatorubralpallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 37:769-775
21. Gouw LG, Castaneda MA et al (1998) Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. Hum Mol Genet 7:525-532
22. Davies SW, Turmaine M et al (1997) Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90:537-548
23. DiFiglia M, Sapp E et al (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277:1990-1993
24. Skinner PJ, Koshy BT et al (1997) Ataxin-1 with an expanded glutamine tract alters nuclear matrix-Associated structures. Nature 389:971-974
25. Paulson HL, Perez MK et al (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19:333-344
26. Holmberg M, Duyckaerts C et al (1998) Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet 7:913-918
27. Hayashi Y, Kakita A et al (1998) Hereditary dentatorubral-pallidoluysian atrophy: Detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain. Acta Neuropathol 96:547-552
28. Igarashi S, Koide R et al (1998) Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch. Nat Genet 18:111-117
29. Ross CA (1997) Intranuclear neuronal inclusions: A common pathogenic mechanism for glutamine-repeat neurodegenerative diseases? Neuron 19:1147-1150
30. Schilling G, Wood JD et al (1999) Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA. Neuron 24:275-286
31. Sisodia SS (1998) Nuclear inclusions in glutamine repeat disorders: Are they pernicious, coincidental, or bene fi cial? Cell 95:1-4
32. Saudou F, Finkbeiner S et al (1998) Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 95:55-66
33. Yamada M, Wood JD et al (2001) Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy. Ann Neurol 49:14-23
34. Yamada M, Tsuji S et al (2000) Pathology of CAG repeat diseases. Neuropathology 20: 319-325
35. Yamada M, Hayashi S et al (2001) Involvement of the cerebral cortex and autonomic ganglia in Machado-Joseph disease. Acta Neuropathol 101:140-144
36. Sato T, Oyake M et al (1999) Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients. Hum Mol Genet 8:99-106
37. Sato T, Miura M et al (2009) Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice. Hum Mol Genet 18:723-736
38. Tanaka F, Sobue G et al (1996) Differential pattern in tissue-speci fi c somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral- pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. J Neurol Sci 135:43-50
39. Takano H, Onodera O et al (1996) Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: Cellular population-dependent dynamics of mitotic instability. Am J Hum Genet 58:1212-1222
40. Sakai K, Yamada M et al (2006) Neuronal atrophy and synaptic alteration in a mouse model of dentatorubral-pallidoluysian atrophy. Brain 129:2353-2362
41. Shimohata T, Nakajima T et al (2000) Expanded polyglutamine stretches interact with TAFII130, interfering with CREBdependent transcription. Nat Genet 26:29-36
42. Nucifora FC Jr, Sasaki M et al (2001) Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity. Science 291:2423-2428