| Functional |
"PCSK9 reduces the hepatic uptake of atherosclerosis-promoting low density lipoproteins (LDL) by targeting the LDL receptor for degradation (99)." |
10.1093/nargab/lqz012 |
| Mutation Description |
"PCSK9 is lost in at least six independent lineages totaling 20 mammals and CETP is lost in at least four independent lineages comprising a total of 33 mammals in our dataset (Figure 2A; Supplementary Figures S8 and S9)." |
10.1093/nargab/lqz012 |
| Timing of Loss |
"Exon 6 has a 1 bp frameshifting deletion that is shared across almost species. The respective region was presumably later deleted in the cat and Weddell seal." see supplementary material" |
10.1093/nargab/lqz012 |
| Other |
"While PCSK9 gain-of-function mutations cause hypercholesterolemia (100,101), loss-of
function mutations in the human or mouse gene result in low LDL cholesterol levels (96,102–104)." |
10.1093/nargab/lqz012 |
| Other |
"Interestingly, many mammals have lost both PCSK9 and CETP." |
10.1093/nargab/lqz012 |