OMIA:002488-9544 : Parkinson disease, PARK7-related in Macaca mulatta (Rhesus monkey)

In other species: dog , pig

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

Considered a defect: yes

Key variant known: no

Cross-species summary: PARK7 is also known as DJ-1

Species-specific description: Li et al. (2023) "used an adeno-associated virus serotype 9 (AAV9)-delivered CRISPR/Cas9 system to directly co-edit PINK1 and DJ-1 [also called PARK7] genes in the substantia nigras (SNs) of two monkey groups: an old group and a middle-aged group. After the operation, the old group exhibited all the classic PD symptoms, including bradykinesia, tremor, and postural instability, accompanied by key pathological hallmarks of PD, such as severe nigral dopaminergic neuron loss (>64%) and evident α-synuclein pathology in the gene-edited SN. In contrast, the phenotype of their middle-aged counterparts, which also showed clear PD symptoms and pathological hallmarks, were less severe." This study involves 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 Parkinsonism associated deglycase Macaca mulatta 1 NC_041754.1 (216558559..216533852) PARK7 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002488-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 Li, H., Wu, S., Ma, X., Li, X., Cheng, T., Chen, Z., Wu, J., Lv, L., Li, L., Xu, L., Wang, W., Hu, Y., Jiang, H., Yin, Y., Qiu, Z., Hu, X. :
Co-editing PINK1 and DJ-1 genes via adeno-associated virus-delivered CRISPR/Cas9 system in adult monkey brain elicits classical Parkinsonian phenotype. Neurosci Bull 37:1271-1288, 2021. Pubmed reference: 34165772. DOI: 10.1007/s12264-021-00732-6.

Edit History

  • Created by Imke Tammen2 on 13 Aug 2023
  • Changed by Imke Tammen2 on 13 Aug 2023
  • Changed by Imke Tammen2 on 18 Dec 2023