OMIA:002477-9823 : Cardiovascular disease risk, ASGR1-related in Sus scrofa (pig)
Categories: Cardiovascular system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 108360 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Species-specific description: Xie et al. (2021) "generated ASGR1-deficient pigs using the CRISPR/Cas9 system. These pigs show age-dependent low levels of non-HDL-C under standard diet. When received an atherogenic diet for 6 months, ASGR1-deficient pigs show lower levels of non-HDL-C and less atherosclerotic lesions than that of controls. Furthermore, by analysis of hepatic transcriptome and in vivo cholesterol metabolism, we show that ASGR1 deficiency reduces hepatic de novo cholesterol synthesis by downregulating 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), and increases cholesterol clearance by upregulating the hepatic low-density lipoprotein receptor (LDLR), which together contribute to the low levels of non-HDL-C. Despite the cardioprotective effect, we unexpectedly observed mild to moderate hepatic injury in ASGR1-deficient pigs ...." This study involves genetically modified organisms (GMO).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Bama Xiang Zhu, China (Pig) (VBO_0012741).
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|
|ASGR1||asialoglycoprotein receptor 1||Sus scrofa||12||NC_010454.4 (52540636..52536738)||ASGR1||Homologene, Ensembl , NCBI gene|
Cite this entry
|2021||Xie, B., Shi, X., Li, Y., Xia, B., Zhou, J., Du, M., Xing, X., Bai, L., Liu, E., Alvarez, F., Jin, L., Deng, S., Mitchell, G.A., Pan, D., Li, M., Wu, J. :|
|Deficiency of ASGR1 in pigs recapitulates reduced risk factor for cardiovascular disease in humans. PLoS Genet 17:e1009891, 2021. Pubmed reference: 34762653. DOI: 10.1371/journal.pgen.1009891.|
- Created by Imke Tammen2 on 16 Nov 2021