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OMIA:002748-9544 : Parkinson disease, PRKN-related in Macaca mulatta (Rhesus monkey)

In other species: pig

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 602544 (gene) , 600116 (trait)

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2024

Cross-species summary: PRKN is also called Parkin, or PARK2

Species-specific description: Han et al. (2024) "utilized CRISPR/Cas9 technology to establish parkin-deficient monkey models at different ages. [The authors] found that parkin deficiency leads to substantia nigra neurodegeneration in adult monkey brains and that parkin phosphorylation decreases with aging, primarily due to increased insolubility of parkin."
This phene includes references to studies involving gene edited or 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
PRKN parkin RBR E3 ubiquitin protein ligase Macaca mulatta 4 NC_041757.1 (8030146..9397207) PRKN Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002748-9544: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2024 Han, R., Wang, Q., Xiong, X., Chen, X., Tu, Z., Li, B., Zhang, F., Chen, C., Pan, M., Xu, T., Chen, L., Wang, Z., Liu, Y., He, D., Guo, X., He, F., Wu, P., Yin, P., Liu, Y., Yan, X., Li, S., Li, X.J., Yang, W. :
Deficiency of parkin causes neurodegeneration and accumulation of pathological α-synuclein in monkey models. J Clin Invest 134:e179633, 2024. Pubmed reference: 39403921. DOI: 10.1172/JCI179633.

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  • Created by Imke Tammen2 on 18 Oct 2024