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OMIA:002488-9823 : Parkinson disease, PARK7-related in Sus scrofa (pig)

In other species: Rhesus monkey , dog

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 602533 (gene) , 606324 (trait)

Mendelian trait/disorder: yes

Disease-related: 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).

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
PARK7 parkinson protein 7 Sus scrofa 6 NC_010448.4 (68629327..68645147) PARK7 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002488-9823: 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.

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.

Edit History


  • Created by Imke Tammen2 on 26 Dec 2021
  • Changed by Imke Tammen2 on 26 Dec 2021
  • Changed by Imke Tammen2 on 13 Jan 2023
  • Changed by Imke Tammen2 on 18 Dec 2023