OMIA 002488-9823 : Parkinson disease, PARK7-related in Sus scrofa |
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
602533 (gene)
,
606324 (trait)
Mendelian trait/disorder:
yes
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2014
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).
Associated gene:| 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 |
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 | 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. | ||
| 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. |
Edit History
- Created by Imke Tammen2 on 26 Dec 2021
- Changed by Imke Tammen2 on 26 Dec 2021