OMIA:002488-9823 : Parkinson disease, PARK7-related in Sus scrofa (pig)
Categories: Nervous system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: unknown
Key variant known: yes
Year key variant first reported: 2014
Cross-species summary: PARK7 is also known as DJ-1
Species-specific description: Yao et al. (2014) "successfully used single-strand oligodeoxynucleotides to introduce a short sequence into the DJ-1 locus [also called PARK7]. Mixed DJ-1 mutant colonies were used as donor cells for somatic cell nuclear transfer (SCNT), and three female piglets were obtained (two were bi-allelically mutated, and one was mono-allelically mutated). Western blot analysis showed that the expression of the DJ-1 protein was disrupted in KO piglets. These results imply that a combination of TALENs technology with SCNT can efficiently generate bi-allelic KO pigs without the integration of exogenous DNA."
This phene includes references to studies involving genetically modified organisms (GMO).
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PARK7||parkinson protein 7||Sus scrofa||6||NC_010448.4 (68629327..68645147)||PARK7||Homologene, Ensembl , NCBI gene|
Cite this entry
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.
|2023||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.|
|2021||Tanihara, F., Hirata, M., Otoi, T. :|
|Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025.|
|2016||Wang, X., Cao, C., Huang, J., Yao, J., Hai, T., Zheng, Q., Wang, X., Zhang, H., Qin, G., Cheng, J., Wang, Y., Yuan, Z., Zhou, Q., Wang, H., Zhao, J. :|
|One-step generation of triple gene-targeted pigs using CRISPR/Cas9 system. Sci Rep 6:20620, 2016. Pubmed reference: 26857844. DOI: 10.1038/srep20620.|
|2014||Yao, J., Huang, J., Hai, T., Wang, X., Qin, G., Zhang, H., Wu, R., Cao, C., Xi, J.J., Yuan, Z., Zhao, J. :|
|Efficient bi-allelic gene knockout and site-specific knock-in mediated by TALENs in pigs. Sci Rep 4:6926, 2014. Pubmed reference: 25370805. DOI: 10.1038/srep06926.|
- Created by Imke Tammen2 on 26 Dec 2021
- Changed by Imke Tammen2 on 26 Dec 2021
- Changed by Imke Tammen2 on 13 Jan 2023