Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype

Human Molecular Genetics

Volumn 5, Issue 12, 1996, Pages 1875-1885

  Hodgson, J Graeme ^a   Smith, Desmond J ^b   McCutcheon, Krista ^a   Koide, H Brook ^a   Nishiyama, Kazutoshi ^c   Dinulos, Mary Beth ^d   Stevens, Mary E ^b   Bissada, Nagat ^a   Nasir, Jamal ^a   Kanazawa, Ichiro ^c   Disteche, Christine M ^d   Rubin, Edward M ^b   Hayden, Michael R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^c UNIVERSITY OF TOKYO   (Japan)

^d UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HUNTINGTIN; NERVE PROTEIN;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; EMBRYO DEVELOPMENT; GENE DISRUPTION; GENE EXPRESSION; HUNTINGTON CHOREA; LETHAL MUTANT; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN LOCALIZATION; TISSUE DISTRIBUTION; TRANSGENE; TRANSGENIC MOUSE; YEAST ARTIFICIAL CHROMOSOME;

ANIMALIA; MURINAE; MUS MUSCULUS;

EID: 10544222019     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.12.1875     Document Type: Article

References (35)

1. Hayden, M.R. (1981) Huntington's Disease. Springer-Verlag, London.
2. Vonsattel, J.-P., Myers, R.H., Stevens, T.J., Ferrante, R.J., Bird, E.D. and Richardson, E.P., Jr. (1985). Neuropathological classification of Huntington's disease. J. Neuropath. Exp. 44, 559-577.
3. 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.
4. Kremer, H.P.H., Goldberg, Y.P., Andrew, S.E., Theilmann, J., Telenius, H., Zeisler, J., Squitieri, F., Lin, B., Bassett, A., Almqvist, E., Bird, T.D. and Hayden, M.R. (1994). Worldwide Study of the Huntington's disease mutation: the sensitivity and specificity of repeated CAG sequences. N. Engl. J. Med. 330, 1401-1406.
5. Goldberg, Y.P., Kalchman, M.A., Metzler, M., Nasir, J., Zeisler, J., Graham, R., Koide, H.B., O'Kusky, J., Sharp, A.H., Ross, C.A., Jirik, F. and Hayden, M.R. (1996) Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the Huntington disease transcript. Hum. Mol. Genet. 5, 177-185.
6. 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. and Hayden, M.R. (1995) Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81, 811-823.
7. Duyao, M.P., Auerbach, A.B., Ryan, A., Persichetti, F., Barnes, G.T., McNeil, S.M., Ge, P., Vonsattel, J.-P., Gusella, J.F., Joyner, A.L. and MacDonald, M.E. (1995) Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269, 407-410.
8. Zeitlin, S., Liu, J.-P., Chapman, D.L., Papaioannou, V.E. and Efstratiadis, A. (1995) Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nature Genet. 11, 155-162.
9. Baxendale, S., Abdulla, S., Elgar, G., Buck, D., Berks, M., Micklem, G., Durbin, R., Bates, G., Brenner, S., Beck, S. and Lehrach, H. (1995) Comparative sequence analysis of the human and pufferfish Huntington's disease genes. Nature Genet. 10, 67-76.
10. Lin, B., Nasir, J., MacDonald, H., Hutchinson, G.B., Graham, R.K., Rommens, J.M. and Hayden, M.R. (1994) Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat. Hum. Mol. Genet. 3, 85-92.
11. Lin, B., Nasir, J., Kalchman, M.A., McDonald, H., Zeisler, J., Goldberg, Y.P. and Hayden M.R. (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, 707-715.
12. Burright, E.N., Clark, H.B., Servadio, A., Matilla, T., Feddersen, R.M., Yunis, W.S., Duvick, L.A., Zoghbi, H.Y. and Orr, H.T. (1995) SCAI Transgenic Mice: A Model for Neurodegeneration Caused by an Expanded CAG Trinucleotide Repeat. Cell 82, 937-948.
13. Ikeda, H., Yamaguchi, M., Sugai, S., Aze, Y., Narumiya, S. and Kakizuka, A. (1996) Expanded polyglutamine in the Machado - Joseph disease protein induces cell death in vitro and in vivo. Nature Genet. 13, 196-202.
14. Gaensler, K.M.L., Kitamura, M. and Kan, Y.W. (1993) Germ-line transmission and developmental regulation of a 150-kb yeast artificial chromosome containing the human B-globin locus in transgenic mice. Proc. Natl Acad Sci USA 90, 11381-11385.
15. Peterson, K.R., Clegg, C.H., Huxley, C., Josephson, B.M., Haugen, H.S., Furukawa, T. and Stamatoyannopoulus, G. (1993) Transgenic mice containing a 248-kb yeast artificial chromosome carrying the human B-globin locus display proper developmental control of human globin genes. Proc. Natl. Acad. Sci. USA 90, 7593-7597.
16. Frazer, K.A., Narla, G., Zhang, J.L and Rubin, E.M. (1995) The apolipoprotein(a) gene is regulated by sex hormones and acute-phase inducers in YAC transgenic mice. Nature Genet. 9, 424-431.
17. Schedl, A., Montoliu, L., Kelsey, G. and Schutz, G. (1993) A yeast artificial chromosome covering the tyrosinase gene confers copy number-dependent expression in transgenic mice. Nature 362, 258-362.
18. Lamb, B.T., Sisodia, S.S., Lawler, A.M., Slunt, H.H., Kitt, C.A., Kearns, W.G., Pearson, P.L., Price, D.L. and Gearhart, J.D. (1993) Introduction and expression of the 400 kilobase precursor amyloid protein gene in transgenic mice. Nature Genet. 5, 22-29.
19. Jaenisch, R. (1988) Transgenic Animals. Science 240, 1468-1474.
20. Duff, K., McGuigan, A., Huxley, C., Schulz, F. and Hardy, J. (1994) Insertion of a pathogenic mutation into a yeast artificial chromosome containing the human amyloid precursor protein gene. Gene Ther. 1, 70-75.
21. Bates, G.P., Valdes, J., Hummerich, H., Baxendale, S., Le Paslier, D.L., Monaco, A.P., Tagle, D., MacDonald, M.E., Altherr, M., Ross, M., Broenstein, B.H., Bentley, D., Wasmuth, J.J., Gusella, J.F., Cohen, D., Collins, F. and Lehrach, H. (1991) Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region. Nature Genet. 1, 180-187.
22. Smith, D.J., Zhu, Y., Zhang, J., Cheng, J.F. and Rubin, M.R. (1995) Construction of a panel of transgenic mice containing a contiguous 2-Mb set of YAC/P1 clones from human chromosome 21q22.2. Genomics 27, 425-434.
23. Kalchman, M.A., Graham, R.K., Xia, G., Koide, H.B., Hodgson, J.G., Graham, K.C., Goldberg, Y.P., Gietz, R.Da,. Pickart, C.M. and Hayden, M.R. (1996) Huntingtin is ubiquitinated and interacts with a specific ubiquitin conjugating enzyme. J. Biol Chem. 211, 19385-19394.
24. Edelmann, L., Hanson, P.I., Chapman, E.R. and Jahn, R. (1995) Synaptobrevin binding to synaptophysin: a potential mechanism for controlling the exocytotic fusion machine. EMBO J. 14, 224-231.
25. n repeat in the Huntington disease gene. Hum. Mol Genet. 2, 2063-2067.
26. Kremer, B., Almqvist, E., Theilmann, J., Spence, N., Telenius, H., Goldberg, Y.P. and Hayden, M.R. (1995) Sex Dependent Mechanisms For Expansions and Contractions of the CAG Repeat on Affected Huntington Disease Chromosomes. Am. J. Hum. Genet. 57, 343-350.
27. Hogan, B.L., Constantini, F. and Lacy, E. (1986) Manipulating the Mouse Embryo: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
28. Goldberg, Y.P., Andrew, S.E., Clarke, L.A. and Hayden, M.R. (1993) A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Hum. Mol. Genet. 6, 635-636.
29. Ambrose, C.M., Dyao, M.P., Barnes, G., Bates, G.P., Lin, C.S., Srinidhi, J., Baxendale, S., Hummerich, H., Lehrach, H., Altherr, M., Wasmuth, J., Buckler, A., Church, D., Housman, D., Berks, M., Micklem, G., Durbin, R., Dodge, A., Read, A., Gusella, J. and MacDonald, M.E. (1994) Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Som. Cell. Mol. Genet. 20, 27-38.
30. Chomczynski, P and Sacchi N. (1987) Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate-Phenol-Chloroform Extraction. Anal. Biochem. 162, 156-159.
31. Chance, P.F., Alderson, M.K., Leppig, K.A., Lensch, M.W., Matsunami, N., Smith, B., Swanson, P.D., Odelberg, S.J., Disteche, C.M. and Bird, T. (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72, 143-151.
32. Wood, J.D., MacMillan, J.C., Harper P.S., Lowenstein, P.R. and Jones, A.L. (1996) Partial characterization of murine huntingtin and apparent variations in the subcellular localisation of huntingtin in human, mouse and rat brain. Hum. Mol. Genet., 5, 481-487.
33. Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 227, 680-685.
34. Towbin, H., Staehelin, T. and Gordon, J. (1979) Electrophoretic transfer of proteins form polyacrylamide gels to nitrocellulose sheets: Procedure and some applications. Proc. Natl. Acad. Sci. USA 76, 4350-4354.
35. Burke, D.T., Carle, G.F. and Olson, M.V. (1987) Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors. Science 236, 806-812.