OMIA:002361-9541 : Parkinson disease, PINK1-related in Macaca fascicularis (crab-eating macaque) |
In other species: Rhesus monkey , pig
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 608309 (gene) , 605909 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Species-specific description: Chen et al. (2021): "injected Cas9-D10A mRNA and two truncated sgRNAs into one-cell-stage cynomolgus zygotes to target the PINK1 gene. We achieved precise and efficient gene editing of the target site in three newborn cynomolgus monkeys. The frame shift mutations of PINK1 in mutant fibroblasts led to a reduction in mRNA. However, western blotting and immunofluorescence staining confirmed the PINK1 protein levels were comparable to that in wild-type fibroblasts." (Genetically modified organism GMO)
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PINK1 | PTEN induced kinase 1 | Macaca fascicularis | 1 | NC_052255.1 (202715125..202697473) | PINK1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002361-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2024 | Pan, M.T., Zhang, H., Li, X.J., Guo, X.Y. : |
| Genetically modified non-human primate models for research on neurodegenerative diseases. Zool Res 45:2095-8137(2024)02-0263-12:263-274, 2024. Pubmed reference: 38287907. DOI: 10.24272/j.issn.2095-8137.2023.197. | |
| 2023 | Khan, E., Hasan, I., Haque, M.E. : |
| Parkinson's disease: Exploring different animal model systems. Int J Mol Sci 24:9088, 2023. Pubmed reference: 37240432. DOI: 10.3390/ijms24109088. | |
| Qu, J., Liu, N., Gao, L., Hu, J., Sun, M., Yu, D. : | |
| Development of CRISPR Cas9, spin-off technologies and their application in model construction and potential therapeutic methods of Parkinson's disease. Front Neurosci 17:1223747, 2023. Pubmed reference: 37483347. DOI: 10.3389/fnins.2023.1223747. | |
| 2022 | Yang, W., Guo, X., Tu, Z., Chen, X., Han, R., Liu, Y., Yan, S., Wang, Q., Wang, Z., Zhao, X., Zhang, Y., Xiong, X., Yang, H., Yin, P., Wan, H., Chen, X., Guo, J., Yan, X.X., Liao, L., Li, S., Li, X.J. : |
| PINK1 kinase dysfunction triggers neurodegeneration in the primate brain without impacting mitochondrial homeostasis. Protein Cell 13:26-46, 2022. Pubmed reference: 34800266. DOI: 10.1007/s13238-021-00888-x. | |
| 2021 | Chen, Z.Z., Wang, J.Y., Kang, Y., Yang, Q.Y., Gu, X.Y., Zhi, D.L., Yan, L., Long, C.Z., Shen, B., Niu, Y.Y. : |
| PINK1 gene mutation by pair truncated sgRNA/Cas9-D10A in cynomolgus monkeys. Zool Res 42:469-477, 2021. Pubmed reference: 34213093. DOI: 10.24272/j.issn.2095-8137.2021.023. | |
| Yang, W., Chen, X., Li, S., Li, X.J. : | |
| Genetically modified large animal models for investigating neurodegenerative diseases. Cell Biosci 11:218, 2021. Pubmed reference: 34933675. DOI: 10.1186/s13578-021-00729-8. |
Edit History
- Created by Imke Tammen2 on 11 Aug 2021
- Changed by Imke Tammen2 on 11 Aug 2021
- Changed by Imke Tammen2 on 09 Jan 2022
- Changed by Imke Tammen2 on 18 Dec 2023