Transgenic mouse models of neurodegenerative disease caused by CAG/polyglutamine expansions

Molecular Medicine Today

Volumn 3, Issue 11, 1997, Pages 508-515

  Bates, Gillian P ^a   Davies, Stephen W ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; REPETITIVE DNA;

ANIMAL MODEL; CELL DEATH; DEGENERATIVE DISEASE; GENE EXPRESSION; GENE MUTATION; GENETIC STABILITY; HUNTINGTON CHOREA; MACHADO JOSEPH DISEASE; MOLECULAR GENETICS; MOUSE; NONHUMAN; PHENOTYPE; REVIEW; SPINAL MUSCULAR ATROPHY; SPINOCEREBELLAR DEGENERATION; TRANSGENIC MOUSE;

ANIMALIA; MUS MUSCULUS;

EID: 0030712094     PISSN: 13574310     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-4310(97)01142-8     Document Type: Review

References (47)

1. Bates, G.P., Mangiarini, L., Mahal, A. and Davies, S.W. Transgenic models of Huntingdon's disease, Hum. Mol. Genet. 6, 1633-1637
2. Ross, C.A. (1995) When more is less: pathogenesis of glutamine repeat neurode-generative diseases, Neuron 15, 493-496
3. Jou, Y-S. and Myers, R.M. (1995) Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein, Hum. Mol. Genet. 4, 465-469
4. Trottier, Y. et al. (1995) Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated forms, Nat. Genet. 10, 104-110
5. Servadio, A. et al. (1995) Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals, Nat. Genet. 10, 94-98
6. Yazawa, I. et al. (1995) Abnormal gene product identified in hereditary dentato-rubral-pallidoluysian atrophy (DRPLA) brain, Nat. Genet. 10, 99-103
7. Nasir, J. et al. (1995) Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes, Cell 81, 811-823
8. Duyao, M.P. et al. (1995) Inactivation of the mouse Huntington's disease gene homolog Hdh, Science 269, 407-410
9. Zeitlin, S. et al. (1995) Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue, Nat. Genet. 11, 155-163
10. Trottier, Y. et al. (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias, Nature 378, 403-406
11. Li, X-J. et al. (1995) A huntingtin-associated protein enriched in brain with implications for pathology, Nature 378, 398-402
12. Wanker, E.E. et al. (1997) HIP-1: A huntingtin interacting protein isolated by the yeast two-hybrid system, Hum. Mol. Genet. 6, 487-495
13. Kalchman, M.A. et al. (1997) HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain, Nat. Genet. 16, 44-53
14. Kalchman, M.A. et al. (1996) Huntingtin is ubiquinated and interacts with a specific ubiquitin-conjugating enzyme, J, Biol Chem. 271, 19385-19394
15. Burke, J.R. et al. (1996) Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH, Nat. Med. 2, 347-350
16. Koshy, B. et al. (1996) Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase, Hum. Mol. Genet. 5, 1311-1318
17. Goldberg, YP. et al. (1996) Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract, Nat. Genet. 13, 442-449
18. Ikeda, H. et al. (1996) Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo, Nat. Genet. 13, 196-202
19. Duyao, M. et al. (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease, Nat. Genet. 4, 387-392
20. n repeat length is the sex of the affected parent, Hum. Mol. Genet. 2, 1535-1540
21. Chung, M. et al. (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1, Nat. Genet. 5, 254-258
22. Telenius, H. et al. (1994) Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm, Nat. Genet. 6, 409-413
23. Ueno, S. et al. (1995) Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA), Hum. Mol. Genet. 4, 663-666
24. Aronin, N. et al. (1995) CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain, Neuron 15, 1193-1201
25. Chong, S.S. et al. (1995) Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1, Nat. Genet. 10, 344-350
26. Takano, H. 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
27. Tanaka, F. et al. (1996) Differential pattern of tissue-specific somatic mosaicism of expanded CAG trinucleotide repeat in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy, J. Neurol. Sci. 135, 43-50
28. Hodgson, J.G. et al. (1996) Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype, Hum. Mol. Genet. 5, 1875-1885
29. Barnes, G.T. et al. (1994) Mouse Huntington's disease gene homolog (Hdh), Somatic Cell Mol. Genet. 20, 87-97
30. Lin, B. et al. (1994) Sequence of the murine Huntington's disease gene: evidence for conservation, and polymorphism in a triplet (CCG) repeat alternate splicing, Hum. Mol. Genet. 3, 85-92
31. Bingham, P.M. et al. (1995) Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice, Nat. Genet. 9, 191-196
32. Goldberg, Y.P. et al. (1996) Absence of the disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington's disease transcript, Hum. Mol. Genet. 5, 177-185
33. Zoghbi, H.Y. and Orr, H.T. (1995) Spinocerebellar ataxia type 1, Seminars in Cell Biology 6, 29-35
34. Burright, E.N. et al. (1995) SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat, Cell 82, 937-948
35. Harper, P.S. (1991) Huntington's disease, W.B. Saunders
36. Vonsattel, J-P. et al. (1985) Neuropathological classification of Huntington's disease, J. Neuropathol. Exp. Neural. 44, 559-577
37. Mangiarini, L. et al. (1996) Exon 1 of the Huntington's disease gene containing a highly expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice, Cell 87, 493-506
38. Davies, S.W. et al. (1997) Formation of neuronal intranuclear inclusions (NII) underlies the neurological dysfunction in mice transgenic for the HD mutation, Cell 90, 537-548
39. de la Monte, S.M. et al. (1988) Morphometric demonstration of atrophic changes in the cerebral cortex, white matter and neostriatum in Huntington's disease, J. Neuropathol. Exp. Neurol. 47, 516-525
40. Roizin, L. et al. (1979) in Advances in Neurology (Chase, T.N., Wexler, N.S. and Barbeau, A., eds), pp. 95-122, Raven Press
41. DiFiglia, M. et al (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain, Science 277, 1990-1993
42. Scherzinger, E. et al. (1997) Huntingtin encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo, Cell 90, 549-558
43. Perutz, M.F. et al (1994) Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases, Proc. Natl. Acad. Sci. U.S.A . 91, 5355-5358
44. Mangiarini, L. et al. (1997) Instability of highly expanded CAG repeats in transgenic mice is related to expression of the transgene, Nat. Genet. 15, 197-200
45. Monckton, D.G. et al. (1997) Hypermutable myotonic dystrophy CTG repeats in transgenic mice, Nat. Genet. 15, 193-196
46. Gourdon, G. et al. (1997) Moderate Intergenerational and somatic instability of a 55-CTG repeat in transgenic mice, Nat. Genet. 15, 190-192
47. Wieringa, B. (1994) Myotonic dystrophy reviewed: back to the future? Hum. Mol. Genet. 3, 1-7