Targeted inactivation of the mouse Huntington's disease gene homolog Hdh

Cold Spring Harbor Symposia on Quantitative Biology

Volumn 61, Issue , 1996, Pages 627-638

  Macdonald, M E ^a   Duyao, M ^a,b   Calzonetti, T ^a   Auerbach, A ^c   Ryan, A ^a   Barnes, G ^a   White, J K ^a   Auerbach, W ^c   Vonsattel, J P ^a   Gusella, J F ^a,d   Joyner, A L ^c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b CELERA   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONFERENCE PAPER; DEMENTIA; DEPRESSION; GENE MUTATION; GENE REPRESSION; HUMAN; HUNTINGTON CHOREA; INVOLUNTARY MOVEMENT; NERVE DEGENERATION; PRIORITY JOURNAL; AMINO TERMINAL SEQUENCE; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; EMBRYO; EMBRYO DEVELOPMENT; EMBRYONIC STEM CELL; GENE EXPRESSION; GENE INACTIVATION; GENE TARGETING; HETEROZYGOSITY; HOMOZYGOSITY; MOUSE; NONHUMAN;

HUNTINGTIN;

EID: 12644263394     PISSN: 00917451     EISSN: None     Source Type: Book Series    
DOI: 10.1101/sqb.1996.061.01.063     Document Type: Conference Paper

References (46)

1. Ambrose, C.M., M.P. Duyao, G. Barnes, G.P. Bates, C.S. Lin, J. Srinidhi, S. Baxendale, H. Hummerich, H. Lehrach, M. Altherr, J.J. Wasmuth, A. Buckler, D. Church, D. Housman, M. Berks, G. Micklem, R. Durbin, A. Dodge, A. Read, J.F. Gusella, and M.E. MacDonald. 1994. Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat. Somatic Cell Mol. Genet. 20: 27.
2. Barnes, G.T., M.P. Duyao, C.M. Ambrose, S. McNeil, F. Persichetti, J. Srinidhi, J.F. Gusella, and M.E. MacDonald. 1994. Mouse Huntington's disease gene homolog (Hdh). Somatic Cell Mol. Genet. 20: 87.
3. Baxendale, S., S. Abdulla, G. Elgar, D. Buck, M. Berks, G. Micklem, R. Durbin, G. Bates, S. Brenner, S. Beck, et al. 1995. Comparative sequence analysis of the human and pufferfish Huntington's disease genes. Nat. Genet. 10: 67.
4. Beal, M.F. 1995. Aging, energy, and oxidative stress in neurodegenerative diseases. Ann. Neurol. 38: 357.
5. Burright, E.N., H.B. Clark, A. Servadio, T. Matilla, R.M. Feddersen, W.S. Yunis, L.A. Duvick, H.Y. Zoghbi, and H.T. Orr. 1995. SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82: 937.
6. Conlon, R.A. and B.G. Herrmann. 1993. Detection of messenger RNA by in situ hybridization to postimplantation embryo whole mounts. Methods Enzymol. 225: 373.
7. Downs, K.M. and T. Davies. 1993. Staging of gastrulating mouse embryos by morphological landmarks in the dissecting microscope. Development 118: 1255.
8. Dure, L.S.T., G.B. Landwehrmeyer, J. Golden, S.M. McNeil, P. Ge, H. Aizawa, Q. Huang, C.M. Ambrose, M.P. Duyao, E.D. Bird, M. DiFiglia, J.F. Gusella, M.E. MacDonald, J.B. Penney, A.B. Young, and J.-P. Vonsattel. 1994. IT15 gene expression in fetal human brain. Brain Res. 659: 33.
9. Dutch-Belgian Fragile X Consortium. 1994. Fmr1 knockout mice: A model to study fragile X mental retardation. Cell 78: 23.
10. Duyao, M.P., A.B. Auerbach, A. Ryan, F. Persichetti, G.T. Barnes, S.M. McNeil, P. Ge, J.P. Vonsattel, J.F. Gusetia, A.L. Joyner, and M.E. MacDonald. 1995. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269: 407.
11. Goldberg, Y.P., M.A. Kalchman, M. Metzler, J. Nasir, J. Zeisler, R. Graham, H.B. Koide, J. O'Kusky, A.H. Sharp, C.A. Ross, F. Jirik, and M.R. Hayden. 1996a. Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Hum. Mol. Genet. 5: 177.
12. Goldberg, Y.P., D.W. Nicholson, D.M. Rasper, M.A. Kalchman, H.B. Koide, R.K. Graham, M. Bromm, P. Kazemi-Esfarjani, N.A. Thornberry, J.P. Vaillancourt, and M.R. Hayden. 1996b. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat. Genet. 13: 442.
13. Graveland, G.A., R.S. Williams, and M. DiFiglia. 1985. Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease. Science 227: 770.
14. Green, H. 1993. Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism (letter). Cell 74: 955.
15. Grosson, C.L., M.E. MacDonald, M.P. Duyao, C.M. Ambrose, S. Roffler-Tarlov, and J.F. Gusella. 1994. Synteny conservation of the Huntington's disease gene and surrounding loci on mouse chromosome 5. Mamm. Genome 5: 424.
16. Gusella, J.F. and M.E. MacDonald. 1995a. Huntington's disease. Semin. Cell Biol. 6: 21.
17. _. 1995b. Huntington's disease: CAG genetics expands neurobiology. Curr. Opin. Neurol. 5: 656.
18. _. 1996. Trinucleotide instability: A repeating theme in human inherited disorders. Ann. Rev. Med. (in press.)
19. Gutekunst, C.A., A.I. Levey, C.J. Heilman, W.L. Whaley, H. Yi, N.R. Nash, H.D. Rees, J.J. Madden, and S.M. Hersch. 1995. Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies. Proc. Natl. Acad. Sci. 92: 8710.
20. Harper, P.S. 1992. The epidemiology of Huntington's disease. Hum. Genet. 89: 365.
21. 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.
22. Ide, K., N. Nukina, N. Masuda, J. Goto, and I. Kanazawa. 1995. Abnormal gene product identified in Huntington's disease lymphocytes and brain. Biochem. Biophys. Res. Commun. 209: 1119.
23. Ikeda, H., M. Yamaguchi, S. Sugai, Y. Aze, S. Narumiya, and A. Kakizuka. 1996. Expanded polyglutamine in the Machado-Joseph disease protein indices cell death in vitro and in vivo. Nat. Genet. 13:196.
24. Landwehrmeyer, G.B., S.M. McNeil, L.S.T. Dure, P. Ge, H. Aizawa, Q. Huang, C.M. Ambrose, M.P. Duyao, E.D. Bird, E. Bonilla, M. deYoung, A.J. Avila-Gonzales, N.S. Wexler, M. DiFiglia, J.F. Gusella, M.E. MacDonald, P.B. Penny, A.B. Young, and J.-P. Vonsattel. 1995. Huntington's disease gene: Regional and cellular expression in brain of normal and affected individuals. Ann. Neurol. 37: 218.
25. Li, X.J., S.H. Li, A.H. Sharp, F.C. Nucifora, Jr., G. Schilling, A. Lanahan, P. Worley, S.H. Snyder, and C.A. Ross. 1995. A huntingtin-associated protein enriched in brain with implications for pathology. Nature 378: 398.
26. Lin, B., J. Nasir, M.A. Kalchman, H. McDonald, J. Zeisler, Y.P. Goldberg, and M.R. Hayden. 1995. Structural analysis of the 5′ region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms. Genomics 25: 707.
27. Lin, B., J. Nasir, H. MacDonald, G. Hutchinson, R.K. Graham, J.M. Rommens, and M.R. Hayden. 1994. Sequence of the murine Huntington disease gene: Evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat (corrected) (published erratum appears in Hum. Mol. Genet. [1994] 3:530). Hum. MoL Genet. 3: 85.
28. Martin, J.B. 1995. Gene therapy and pharmacological treatment of inherited neurological disorders. Trends Biotechnol. 13: 28.
29. Martin, J.B. and J.F. Gusella. 1986. Huntington's disease. Pathogenesis and management. N. Engl. J. Med. 315: 1267.
30. Myers, R.H., J. Leavitt, L.A. Farrer, J. Jagadeesh, H. McFarlane, C.A. Mastromauro, R.J. Mark, and J.F. Gusella. 1989. Homozygote for Huntington disease. Am. J. Hum. Genet. 45: 615.
31. Nasir, J., B. Lin, M. Bucan, T. Koizumi, J.H. Nadeau, and M.R. Hayden. 1994. The murine homologues of the Huntington disease gene (Hdh) and the alpha-adducin gene (Add1) map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3. Genomics 22: 198.
32. Nasir, J., S.B. Floresco, B., J.R. O'Kusky, V.M. Diewert, J.M. Richman, J. Zeisler, A. Borowski, J.D. Marth, A.G. Phillips, and M.R. Hayden. 1995. Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81: 811.
33. Persichetti, F., C.M. Ambrose, P. Ge, S.M. McNeil, J. Srinidhi, M.A. Anderson, B. Jenkins, G.T. Barnes, M.P. Duyao, L. Kanaley, N.S. Wexler, R.H. Myers, E.D. Bird, J.-P. Vonsattel, M.E. MacDonald, and J.F. Gusella. 1995. Normal and expanded Huntington's disease gene alleles produce distinguishable proteins due to translation across the CAG repeat. Mol. Med. 1: 374.
34. Persichetti, F., L. Carlee, P.W. Faber, S.M. McNeil, CM. Ambrose, J. Srinidhi, M.A. Anderson, G.T. Barnes, J.F. Gusella, and M.E. MacDonald. 1996. Differential expression of normal and mutant Huntington's disease gene alleles. Neurobiol. Dis. (in press).
35. Perutz, M.F. 1995. Polar zippers: Their role in human disease. Pharm. Acta Helv. 69: 213.
36. Perutz, M.F., T. Johnson, M. Suzuki, and J.T. Finch. 1994. Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases. Proc. Natl. Acad. Sci. 91: 5355.
37. Rubinsztein, D.C., D.E. Barton, B.C. Davison, and M.A. Ferguson-Smith. 1993. Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number. Hum. Mol. Genet. 2: 1713.
38. Schmitt, I., D. Bachner, D. Megow, P. Henklein, H. Hameister, J.T. Epplen, and O. Riess. 1995. Expression of the Huntington disease gene in rodents: Cloning the rat homologue and evidence for downregulation in nonneuronal tissues during development. Hum. Mol. Genet. 4: 1173.
39. Sharp, A.H. and C.A. Ross. 1996. Neurobiology of Huntington's Disease. Neurobiol. Dis. 3: 3.
40. Sharp, A.H., S.J. Loev, G. Schilling, S.H. Li, X.J. Li, J. Bao, M.V. Wagster, J.A. Kotzuk, J.P. Steiner, A. Lo, J. Hedreen, S. Sisodia, S.H. Snyder, T.M. Dawson, D.K. Ryugo, and C.A. Ross. 1995. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 14: 1065.
41. Theiler, K. 1989. The house mouse: Atlas of embryonic development. Springer-Verlag, New York.
42. Trottier, Y., D. Devys, G. Imbert, F. Saudou, I. An, Y. Lutz, C. Weber, Y. Agid, E.C. Hirsch, and J.L. Mandel. 1995. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat. Genet. 10: 104.
43. Trottier, Y., Y. Lutz, G. Stevanin, G. Imbert, D. Devys, G. Cancel, F. Saudou, C. Weber, G. David, L. Tora, Y. Agid, A. Brice, and J.L. Mandel. 1995. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378: 403.
44. Vonsattel, J.P., R.H. Myers, T.J. Stevens, R.J. Ferrante, E.D. Bird, and E.P. Richardson, Jr. 1985. Neuropathological classification of Huntington's disease. J. Neuropathol. Exp. Neurol. 44: 559.
45. Wexter, N.S., A.B. Young, R.E. Tanzi, H. Travers, S. Starosta-Rubinstein, J.B. Penney, S.R. Snodgrass, I. Shoulson, F. Gomez, M.A. Ramos-Arroyo, G. Penchaszadeh, R. Moreno, K. Gibbons, A. Faryniarz, W. Hobbs, M.A. Anderson, E. Bonilla, P.M. Conneally, and J.F. Gusella. 1987. Homozygotes for Huntington's disease. Nature 326: 194.
46. Zeitlin, S., J.P. Liu, D.L. Chapman, V.E. Papaioannou, and A. Efstratiadis. 1995. Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat. Genet. 11: 155.