OMIA:002372-9544 : Haemoglobinuria, paroxysmal nocturnal in Macaca mulatta |
Categories: Haematopoietic system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 300818 (trait) , 311770 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: yes
Cross-species summary: Hemoglobinuria, paroxysmal nocturnal
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