OMIA:002329-9823 : Hypercholesterolaemia, PCSK9-related in Sus scrofa (pig)
In other species: rabbit
Categories: Homeostasis / metabolism phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: unknown
Key variant known: no
Cross-species summary: Hypercholesterolemia
Species-specific description: Al-Mashhadi et al. (2013): "Using Sleeping Beauty DNA transposition and cloning by somatic cell nuclear transfer, we created Yucatan minipigs with liver-specific expression of human D374Y-PCSK9. D374Y-PCSK9 transgenic pigs displayed reduced hepatic low-density lipoprotein (LDL) receptor levels, impaired LDL clearance, severe hypercholesterolemia, and spontaneous development of progressive atherosclerotic lesions ... ." (Genetically modified organism, GMO).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Yucatan Miniature, United States of America (Pig) (VBO_0013234).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|PCSK9||proprotein convertase subtilisin/kexin type 9||Sus scrofa||6||NC_010448.4 (157409620..157388370)||PCSK9||Homologene, Ensembl , NCBI gene|
Cite this entry
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.
|2020||Shim, J.T., Schmidt, N., Nogales, P., Larsen, T., Sørensen, C.B., Bentzon, J.F. :|
|Effects of castration on atherosclerosis in Yucatan minipigs with genetic hypercholesterolemia. PLoS One 15:e0234131, 2020. Pubmed reference: 32502216. DOI: 10.1371/journal.pone.0234131.|
|2013||Al-Mashhadi, R.H., Sørensen, C.B., Kragh, P.M., Christoffersen, C., Mortensen, M.B., Tolbod, L.P., Thim, T., Du, Y., Li, J., Liu, Y., Moldt, B., Schmidt, M., Vajta, G., Larsen, T., Purup, S., Bolund, L., Nielsen, L.B., Callesen, H., Falk, E., Mikkelsen, J.G., Bentzon, J.F. :|
|Familial hypercholesterolemia and atherosclerosis in cloned minipigs created by DNA transposition of a human PCSK9 gain-of-function mutant. Sci Transl Med 5:166ra1, 2013. Pubmed reference: 23283366. DOI: 10.1126/scitranslmed.3004853.|
- Created by Imke Tammen2 on 20 Apr 2021