OMIA 002329-9823 : Hypercholesterolemia, PCSK9-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 603776

Mendelian trait/disorder: yes

Considered a defect: unknown

Key variant known: no

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).

Breed: Yucatan miniature pig.

Associated gene:

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

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.
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.

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  • Created by Imke Tammen2 on 20 Apr 2021