A fully humanized transgenic mouse model of Huntington disease

Human Molecular Genetics

Volumn 22, Issue 1, 2013, Pages 18-34

  Southwell, Amber L ^a   Warby, Simon C ^b   Carroll, Jeffrey B ^c   Doty, Crystal N ^a   Skotte, Niels H ^a   Zhang, Weining ^a   Villanueva, Erika B ^a   Kovalik, Vlad ^a   Xie, Yuanyun ^a   Pouladi, Mahmoud A ^d   Collins, Jennifer A ^a   Yang, X William ^e   Franciosi, Sonia ^a   Hayden, Michael R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b STANFORD UNIVERSITY   (United States)

^c WESTERN WASHINGTON UNIVERSITY   (United States)

^d NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BEHAVIOR CHANGE; BODY WEIGHT; COGNITIVE DEFECT; CROSS BREEDING; DISEASE CARRIER; GENE; GENE MUTATION; GENE SILENCING; GENOME; HETEROZYGOSITY; HUNTINGTON CHOREA; MOTOR DYSFUNCTION; MOUSE; MUTANT HUNTINGTIN GENE; NONHUMAN; NONVIRAL GENE THERAPY; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; DISEASE MODELS, ANIMAL; GENE SILENCING; HUMANS; HUNTINGTON DISEASE; MICE; MICE, TRANSGENIC; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; ROTAROD PERFORMANCE TEST;

MURINAE; MUS; MUS MUSCULUS;

EID: 84871214247     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds397     Document Type: Article

References (41)

1. Ross, C.A. and Tabrizi, S.J. (2011) Huntington's disease, from molecular pathogenesis to clinical treatment. Lancet Neurol., 10, 83-98.
2. Hawkins, A.K., Ho, A. and Hayden, M.R. (2011) Lessons from predictive testing for Huntington disease: 25 years on. J. Med. Genet., 48, 649-650.
3. Yamamoto, A., Lucas, J.J. and Hen, R. (2000) Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell, 101, 57-66.
4. Diaz-Hernandez, M., Torres-Peraza, J., Salvatori-Abarca, A., Moran, M.A., Gomez-Ramos, P., Alberch, J. and Lucas, J.J. (2005) Full motor recovery despite striatal neuron loss and formation of irreversible amyloid-like inclusions in a conditional mouse model of Huntington's disease. J. Neurosci., 25, 9773-9781.
5. Harper, S.Q., Staber, P.D., He, X., Eliason, S.L., Martins, I.H., Mao, Q., Yang, L., Kotin, R.M., Paulson, H.L. and Davidson, B.L. (2005) From the Cover: RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model. Proc. Natl Acad. Sci. USA, 102, 5820-5825.
6. DiFiglia, M., Sena-Esteves, M., Chase, K., Sapp, E., Pfister, E., Sass, M., Yoder, J., Reeves, P., Pandey, R.K., Rajeev, K.G. et al. (2007) Therapeutic silencing of mutant huntingtin with siRNA attenuates striatal and cortical neuropathology and behavioral deficits. Proc. Natl Acad. Sci. USA, 104, 17204-17209.
7. Wang, Y.-L., Liu, W., Wada, E., Murata, M., Wada, K. and Kanazawa, I. (2005) Clinico-pathological rescue of a model mouse of Huntington's disease by siRNA. Neurosci. Res., 53, 241-249.
8. Boudreau, R.L., McBride, J.L., Martins, I., Shen, S., Xing, Y., Carter, B.J. and Davidson, B.L. (2009) Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacy in Huntington. Mol. Ther., 17, 1053-1063.
9. Drouet, V., Perrin, V., Hassig, R., Dufour, N., Auregan, G., Alves, S., Bonvento, G., Brouillet, E., Luthi-Carter, R., Hantraye, P. et al. (2009) Sustained effects of nonallele-specific huntingtin silencing. Ann. Neurol., 65, 276-285.
10. Machida, Y., Okada, T., Kurosawa, M., Oyama, F., Ozawa, K. and Nukina, N. (2006) rAAV-mediated shRNA ameliorated neuropathology in Huntington disease model mouse. Biochem. Biophys. Res. Commun., 343, 190-197.
11. Rodriguez-Lebron, E., Denovan-Wright, E.M., Nash, K., Lewin, A.S. and Mandel, R.J. (2005) Intrastriatal rAAV-mediated delivery of anti-huntingtin shRNAs induces partial reversal of disease progression in R6/1 Huntington's disease transgenic mice. Mol. Ther., 12, 618-633.
12. Kordasiewicz, H.B., Stanek, L.M., Wancewicz, E.V., Mazur, C., McAlonis, M.M., Pytel, K.A., Artates, J.W., Weiss, A., Cheng, S.H., Shihabuddin, L.S. et al. (2012) Sustained therapeutic reversal of Huntington's disease by transient repression of huntingtin synthesis. Neuron, 74, 1031-1044.
13. 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.
14. 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. Nat. Genet., 11, 155-163.
15. Zuccato, C., Valenza, M. and Cattaneo, E. (2010) Molecular mechanisms and potential therapeutical targets in Huntington's disease. Physiol. Rev., 90, 905-981.
16. Dragatsis, I., Levine, M.S. and Zeitlin, S. (2000) Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice. Nat. Genet., 26, 300-306.
17. McBride, J.L., Pitzer, M.R., Boudreau, R.L., Dufour, B., Hobbs, T., Ojeda, S.R. and Davidson, B.L. (2011) Preclinical safety of RNAi-mediated HTT suppression in the rhesus macaque as a potential therapy for Huntington's disease. Mol. Ther., 19, 2152-2162.
18. Grondin, R., Kaytor, M.D., Ai, Y., Nelson, P.T., Thakker, D.R., Heisel, J., Weatherspoon, M.R., Blum, J.L., Burright, E.N., Zhang, Z. et al. (2012) Six-month partial suppression of Huntingtin is well tolerated in the adult rhesus striatum. Brain, 135, 1197-1209.
19. 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.
20. Butland, S., Devon, R., Huang, Y., Mead, C.-L., Meynert, A., Neal, S., Lee, S., Wilkinson, A., Yang, G., Yuen, M. et al. (2007) CAG-encoded polyglutamine length polymorphism in the human genome. BMC Genomics, 8, 126.
21. Warby, S.C., Montpetit, A., Hayden, A.R., Carroll, J.B., Butland, S.L., Visscher, H., Collins, J.A., Semaka, A., Hudson, T.J. and Hayden, M.R. (2009) CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am. J. Hum. Genet., 84, 351-366.
22. Pfister, E.L., Kennington, L., Straubhaar, J., Wagh, S., Liu, W., DiFiglia, M., Landwehrmeyer, B., Vonsattel, J.-P., Zamore, P.D. and Aronin, N. (2009) Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. Curr. Biol., 19, 774-778.
23. Carroll, J.B., Warby, S.C., Southwell, A.L., Doty, C.N., Greenlee, S., Skotte, N., Hung, G., Bennett, C.F., Freier, S.M. and Hayden, M.R. (2011) Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene/allele-specific silencing of mutant huntingtin. Mol. Ther., 19, 2178-2185.
24. Gray, M., Shirasaki, D.I., Cepeda, C., André, V.M., Wilburn, B., Lu, X.-H., Tao, J., Yamazaki, I., Li, S.-H., Sun, Y.E. et al. (2008) Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice. J. Neurosci., 28, 6182-6195.
25. Hodgson, J.G., Agopyan, N., Gutekunst, C.-A., Leavitt, B.R., LePiane, F., Singaraja, R., Smith, D.J., Bissada, N., McCutcheon, K., Nasir, J. et al. (1999) A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron, 23, 181-192.
26. Pouladi, M.A., Xie, Y., Skotte, N.H., Ehrnhoefer, D.E., Graham, R.K., Kim, J.E., Bissada, N., Yang, X.W., Friedlander, R.M., Leavitt, B.R. et al. (2010) Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression. Hum. Mol. Genet., 1528-1538.
27. Van Raamsdonk, J.M., Gibson, W.T., Pearson, J., Murphy, Z., Lu, G., Leavitt, B.R. and Hayden, M.R. (2006) Body weight is modulated by levels of full-length Huntingtin. Hum. Mol. Genet., 15, 1513-1523.
28. Tabrizi, S.J., Reilmann, R., Roos, R.A.C., Durr, A., Leavitt, B., Owen, G., Jones, R., Johnson, H., Craufurd, D., Hicks, S.L. et al. (2011) Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data. Lancet Neurol., 42-53.
29. Vonsattel, J.P., Keller, C. and Cortes Ramirez, E.P. (2011) Huntington's disease-neuropathology. Handb. Clin. Neurol., 100, 83-100.
30. Van Raamsdonk, J., Pearson, J., Murphy, Z., Hayden, M. and Leavitt, B. (2006) Wild-type huntingtin ameliorates striatal neuronal atrophy but does not prevent other abnormalities in the YAC128 mouse model of Huntington disease. BMC Neurosci., 7, 80.
31. Van Raamsdonk, J.M., Pearson, J., Rogers, D.A., Bissada, N., Vogl, A.W., Hayden, M.R. and Leavitt, B.R. (2005) Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease. Hum. Mol. Genet., 14, 1379-1392.
32. Barnes, G., Duyao, M., Ambrose, C., McNeil, S., Persichetti, F., Srinidhi, J., Gusella, J. and MacDonald, M. (1994) Mouse Huntington's disease gene homolog. Somatic Cell Mol. Genet., 20, 87-97.
33. Pouladi, M.A., Stanek, L.M., Xie, Y., Franciosi, S., Southwell, A.L., Deng, Y., Butland, S., Zhang, W., Cheng, S.H., Shihabuddin, L.S. et al. (2012) Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice. Hum. Mol. Genet., 21, 2219-2232.
34. Southwell, A.L., Ko, J. and Patterson, P.H. (2009) Intrabody gene therapy ameliorates motor, cognitive, and neuropathological symptoms in multiple mouse models of Huntington's disease. J. Neurosci., 29, 13589-13602.
35. Hult, S., Soylu, R., Bjorklund, T., Belgardt, B.F., Mauer, J., Bruning, J.C., Kirik, D. and Petersen, A. (2011) Mutant huntingtin causes metabolic imbalance by disruption of hypothalamic neurocircuits. Cell Metab., 13, 428-439.
36. Hult, S., Soylu, R., Kirik, D. and Petersen, A. (2010) Psychiatric and metabolic changes in the BACHD mouse model of Huntington disease. Society for Neuroscience Annual Meeting Abstract, 861.8.
37. Chung, D.W., Rudnicki, D.D., Yu, L. and Margolis, R.L. (2011) A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression. Hum. Mol. Genet., 20, 3467-3477.
38. Wellington, C.L., Ellerby, L.M., Gutekunst, C.-A., Rogers, D., Warby, S., Graham, R.K., Loubser, O., van Raamsdonk, J., Singaraja, R., Yang, Y.-Z. et al. (2002) Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease. J. Neurosci., 22, 7862-7872.
39. Ko, J., Ou, S. and Patterson, P.H. (2001) New anti-huntingtin monoclonal antibodies: implications for huntingtin conformation and its binding proteins. Brain Res. Bull., 56, 319-329.
40. Pouladi, M.A., Graham, R.K., Karasinska, J.M., Xie, Y., Santos, R.D., Petersen, A. and Hayden, M.R. (2009) Prevention of depressive behaviour in the YAC128 mouse model of Huntington disease by mutation at residue 586 of huntingtin. Brain, 132, 919-932.
41. Menalled, L., El-Khodor, B.F., Patry, M., Suarez-Farinas, M., Orenstein, S.J., Zahasky, B., Leahy, C., Wheeler, V., Yang, X.W., MacDonald, M. et al. (2009) Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models. Neurobiol. Dis., 35, 319-336.