OMIA 002372-9544 : Hemoglobinuria, paroxysmal nocturnal in Macaca mulatta

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 300818 (trait) , 311770 (gene)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Paroxysmal nocturnal hemoglobinuria is a clonal hematopoietic disorder linked to acquired somatic loss-of-function mutations in hematopoietic stem and progenitor cells (HSPCs) inactivating the X-linked PIG-A gene (Shin et al., 2019). Shin et al. (2019) "used CRISPR/Cas9 gene editing of RM [rhesus monkey] HSPCs to create loss-of-function insertions/deletions (indels) in the PIG-A gene, followed by autologous transplantation and long-term follow-up." (genetically modified model - GMO)

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PIGA phosphatidylinositol glycan anchor biosynthesis class A Macaca mulatta X NC_041774.1 (15016437..15000619) PIGA 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 Chen, Y., Rong, F. :
Advances in the creation of animal models of paroxysmal nocturnal hemoglobinuria. Hematology 26:491-496, 2021. Pubmed reference: 34238137. DOI: 10.1080/16078454.2021.1945244.
2019 Shin, T.H., Baek, E.J., Corat, M.A.F., Chen, S., Metais, J.Y., AlJanahi, A.A., Zhou, Y., Donahue, R.E., Yu, K.R., Dunbar, C.E. :
CRISPR/Cas9 PIG-A gene editing in nonhuman primate model demonstrates no intrinsic clonal expansion of PNH HSPCs. Blood 133:2542-2545, 2019. Pubmed reference: 31003997. DOI: 10.1182/blood.2019000800.

Edit History


  • Created by Imke Tammen2 on 08 Aug 2021
  • Changed by Imke Tammen2 on 08 Aug 2021