OMIA 002361-9541 : Parkinson disease, PINK1-related in Macaca fascicularis

In other species: pig , Rhesus monkey

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 608309 (gene) , 605909 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Chen et al. (2021): "injected Cas9-D10A mRNA and two truncated sgRNAs into one-cell-stage cynomolgus zygotes to target the PINK1 gene. We achieved precise and efficient gene editing of the target site in three newborn cynomolgus monkeys. The frame shift mutations of PINK1 in mutant fibroblasts led to a reduction in mRNA. However, western blotting and immunofluorescence staining confirmed the PINK1 protein levels were comparable to that in wild-type fibroblasts." (Genetically modified organism GMO)


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 Chen, Z.Z., Wang, J.Y., Kang, Y., Yang, Q.Y., Gu, X.Y., Zhi, D.L., Yan, L., Long, C.Z., Shen, B., Niu, Y.Y. :
PINK1 gene mutation by pair truncated sgRNA/Cas9-D10A in cynomolgus monkeys. Zool Res 42:469-477, 2021. Pubmed reference: 34213093. DOI: 10.24272/j.issn.2095-8137.2021.023.
Yang, W., Chen, X., Li, S., Li, X.J. :
Genetically modified large animal models for investigating neurodegenerative diseases. Cell Biosci 11:218, 2021. Pubmed reference: 34933675. DOI: 10.1186/s13578-021-00729-8.
Yang, W., Guo, X., Tu, Z., Chen, X., Han, R., Liu, Y., Yan, S., Wang, Q., Wang, Z., Zhao, X., Zhang, Y., Xiong, X., Yang, H., Yin, P., Wan, H., Chen, X., Guo, J., Yan, X.X., Liao, L., Li, S., Li, X.J. :
PINK1 kinase dysfunction triggers neurodegeneration in the primate brain without impacting mitochondrial homeostasis. Protein Cell :, 2021. Pubmed reference: 34800266. DOI: 10.1007/s13238-021-00888-x.

Edit History

  • Created by Imke Tammen2 on 11 Aug 2021
  • Changed by Imke Tammen2 on 11 Aug 2021
  • Changed by Imke Tammen2 on 09 Jan 2022