OMIA 000485-9823 : Huntington disease in Sus scrofa |
In other species:
Rhesus monkey
,
sheep
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
143100 (trait)
,
613004 (gene)
Mendelian trait/disorder:
unknown
Considered a defect:
yes
Species-specific description:
Yang et al. (2010) "generated transgenic Huntington's disease (HD) pigs that express N-terminal (208 amino acids) mutant huntingtin with an expanded polyglutamine tract (105Q). "Baxa et al. (2013) developed "HD transgenic (TgHD) minipigs encoding huntingtin (HTT)1-548 under the control of human HTT promoter". These animals are genetically-modified organisms (GMO).
History:
Matsuyama et al. (2000) reported that the "Sus HD [Huntington Disease] gene closely resembles its human counterpart in terms of sequence and expression pattern. In particular, human-miniature pig similarities in the normal length of the CAG triplet repeat as well as its repeat-number polymorphism may indicate that miniature pig would provide a good animal model for Huntington's disease."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| HTT | huntingtin | Sus scrofa | 8 | NC_010450.4 (1809768..1934002) | HTT | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2021 | Bai, D., Yin, P., Zhang, Y., Sun, F., Chen, L., Lin, L., Yan, S., Li, S., Li, X.J. : | |
| Lack of association of somatic CAG repeat expansion with striatal neurodegeneration in HD knock-in animal models. Hum Mol Genet :, 2021. Pubmed reference: 33949657. DOI: 10.1093/hmg/ddab129. | ||
| 2020 | Howland, D., Ellederova, Z., Aronin, N., Fernau, D., Gallagher, J., Taylor, A., Hennebold, J., Weiss, A.R., Gray-Edwards, H., McBride, J. : | |
| Large animal models of Huntington's disease: What we have learned and where we need to go next. J Huntingtons Dis 9:201-216, 2020. Pubmed reference: 32925082. DOI: 10.3233/JHD-200425. | ||
| 2019 | Smatlikova, P., Juhas, S., Juhasova, J., Suchy, T., Hubalek Kalbacova, M., Ellederova, Z., Motlik, J., Klima, J. : | |
| Adipogenic differentiation of bone marrow-derived mesenchymal stem cells in pig transgenic model expressing human mutant Huntingtin. J Huntingtons Dis 8:33-51, 2019. Pubmed reference: 30584151. DOI: 10.3233/JHD-180303. | ||
| 2018 | Askeland, G., Rodinova, M., Štufková, H., Dosoudilova, Z., Baxa, M., Smatlikova, P., Bohuslavova, B., Klempir, J., Nguyen, T.D., Kuśnierczyk, A., Bjørås, M., Klungland, A., Hansikova, H., Ellederova, Z., Eide, L. : | |
| A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies. Dis Model Mech 11:, 2018. Pubmed reference: 30254085. DOI: 10.1242/dmm.035949. | ||
| Evers, M.M., Miniarikova, J., Juhas, S., Vallès, A., Bohuslavova, B., Juhasova, J., Skalnikova, H.K., Vodicka, P., Valekova, I., Brouwers, C., Blits, B., Lubelski, J., Kovarova, H., Ellederova, Z., van Deventer, S.J., Petry, H., Motlik, J., Konstantinova, P. : | ||
| AAV5-miHTT Gene Therapy Demonstrates Broad Distribution and Strong Human Mutant Huntingtin Lowering in a Huntington's Disease Minipig Model. Mol Ther 26:2163-2177, 2018. Pubmed reference: 30007561. DOI: 10.1016/j.ymthe.2018.06.021. | ||
| Liu, X., Peng, T., Li, H. : | ||
| Using Huntingtin Knock-In Minipigs to Fill the Gap Between Mouse Models and Patients with Huntington's Disease. Neurosci Bull 34:870-872, 2018. Pubmed reference: 30128692. DOI: 10.1007/s12264-018-0272-0. | ||
| Ratna, N., Jain, S. : | ||
| Huntington's disease pig model: Squealing into the spotlight. Mov Disord 33:1410-1411, 2018. Pubmed reference: 30311975. DOI: 10.1002/mds.96. | ||
| Reilmann, R., Schuldenzucker, V. : | ||
| Minipigs as a Large-Brained Animal Model for Huntington's Disease: From Behavior and Imaging to Gene Therapy. Methods Mol Biol 1780:241-266, 2018. Pubmed reference: 29856023. DOI: 10.1007/978-1-4939-7825-0_13. | ||
| Stower, H. : | ||
| A pig model of Huntington's disease. Nat Med 24:898, 2018. Pubmed reference: 29988131. DOI: 10.1038/s41591-018-0119-2. | ||
| Vidinská, D., Vochozková, P., Šmatlíková, P., Ardan, T., Klíma, J., Juhás, Š., Juhásová, J., Bohuslavová, B., Baxa, M., Valeková, I., Motlík, J., Ellederová, Z. : | ||
| Gradual Phenotype Development in Huntington Disease Transgenic Minipig Model at 24 Months of Age. Neurodegener Dis 18:107-119, 2018. Pubmed reference: 29870995. DOI: 10.1159/000488592. | ||
| Yan, S., Tu, Z., Liu, Z., Fan, N., Yang, H., Yang, S., Yang, W., Zhao, Y., Ouyang, Z., Lai, C., Yang, H., Li, L., Liu, Q., Shi, H., Xu, G., Zhao, H., Wei, H., Pei, Z., Li, S., Lai, L., Li, X.J. : | ||
| A Huntingtin knockin pig model recapitulates features of selective neurodegeneration in Huntington's disease. Cell 173:989-1002.e13, 2018. Pubmed reference: 29606351. DOI: 10.1016/j.cell.2018.03.005. | ||
| 2017 | Krizova, J., Stufkova, H., Rodinova, M., Macakova, M., Bohuslavova, B., Vidinska, D., Klima, J., Ellederova, Z., Pavlok, A., Howland, D.S., Zeman, J., Motlik, J., Hansikova, H. : | |
| Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs. Neurodegener Dis 17:213-226, 2017. Pubmed reference: 28633139. DOI: 10.1159/000475467. | ||
| Schuldenzucker, V., Schubert, R., Muratori, L.M., Freisfeld, F., Rieke, L., Matheis, T., Schramke, S., Motlik, J., Kemper, N., Radespiel, U., Reilmann, R. : | ||
| Behavioral testing of minipigs transgenic for the Huntington gene-A three-year observational study. PLoS One 12:e0185970, 2017. Pubmed reference: 29016656. DOI: 10.1371/journal.pone.0185970. | ||
| 2016 | Holm, I.E., Alstrup, A.K., Luo, Y. : | |
| Genetically modified pig models for neurodegenerative disorders. J Pathol 238:267-87, 2016. Pubmed reference: 26446984. DOI: 10.1002/path.4654. | ||
| Macakova, M., Bohuslavova, B., Vochozkova, P., Pavlok, A., Sedlackova, M., Vidinska, D., Vochyanova, K., Liskova, I., Valekova, I., Baxa, M., Ellederova, Z., Klima, J., Juhas, S., Juhasova, J., Klouckova, J., Haluzik, M., Klempir, J., Hansikova, H., Spacilova, J., Collins, R., Blumenthal, I., Talkowski, M., Gusella, J.F., Howland, D.S., DiFiglia, M., Motlik, J. : | ||
| Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars. Neurodegener Dis 16:245-59, 2016. Pubmed reference: 26959244. DOI: 10.1159/000443665. | ||
| Schramke, S., Schuldenzucker, V., Schubert, R., Frank, F., Wirsig, M., Ott, S., Motlik, J., Fels, M., Kemper, N., Hölzner, E., Reilmann, R. : | ||
| Behavioral phenotyping of minipigs transgenic for the Huntington gene. J Neurosci Methods 265:34-45, 2016. Pubmed reference: 26688470. DOI: 10.1016/j.jneumeth.2015.11.013. | ||
| 2015 | Chang, R., Liu, X., Li, S., Li, X.J. : | |
| Transgenic animal models for study of the pathogenesis of Huntington's disease and therapy. Drug Des Devel Ther 9:2179-88, 2015. Pubmed reference: 25931812. DOI: 10.2147/DDDT.S58470. | ||
| Li, X.J., Li, S. : | ||
| Large Animal Models of Huntington's Disease. Curr Top Behav Neurosci 22:149-60, 2015. Pubmed reference: 24048953. DOI: 10.1007/7854_2013_246. | ||
| 2013 | Baxa, M., Hruska-Plochan, M., Juhas, S., Vodicka, P., Pavlok, A., Juhasova, J., Miyanohara, A., Nejime, T., Klima, J., Macakova, M., Marsala, S., Weiss, A., Kubickova, S., Musilova, P., Vrtel, R., Sontag, E.M., Thompson, L.M., Schier, J., Hansikova, H., Howland, D.S., Cattaneo, E., DiFiglia, M., Marsala, M., Motlik, J. : | |
| A transgenic minipig model of Huntington's Disease. J Huntingtons Dis 2:47-68, 2013. Pubmed reference: 25063429. DOI: 10.3233/JHD-130001. | ||
| 2010 | Yang, D., Wang, C.E., Zhao, B., Li, W., Ouyang, Z., Liu, Z., Yang, H., Fan, P., O'Neill, A., Gu, W., Yi, H., Li, S., Lai, L., Li, X.J. : | |
| Expression of Huntington's disease protein results in apoptotic neurons in the brains of cloned transgenic pigs. Hum Mol Genet 19:3983-94, 2010. Pubmed reference: 20660116. DOI: 10.1093/hmg/ddq313. | ||
| 2000 | Matsuyama, N., Hadano, S., Onoe, K., Osuga, H., Showguchi-Miyata, J., Gondo, Y., Ikeda, J.E. : | |
| Identification and characterization of the miniature pig Huntington's disease gene homolog: Evidence for conservation and polymorphism in the CAG triplet repeat Genomics 69:72-85, 2000. Pubmed reference: 11013077. DOI: 10.1006/geno.2000.6317. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 30 Sep 2019
- Changed by Imke Tammen2 on 26 May 2021
- Changed by Imke Tammen2 on 25 Jun 2021