Ψ PCSK9 - Eptesicus fuscus

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_P3MSRD Eptesicus fuscus Exon(s) deletion Full Yes Single individual SRA

Statements

Type Excerpt DOI
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 "In Chiroptera, large deletions overlap between species, which is why we conservatively assume a single loss of PCSK9 in this clade; however, it is also possible that this gene was lost independently in Chiroptera." 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

Related Glosses

GL_ID Symbol Species Order Gene Loss Mechanism Loss Type Lineage Specific Citation
GL_5FW7PS PCSK9 Eptesicus fuscus Chiroptera Exon(s) deletion Full Chiroptera 10.1007/s10709-021-00113-x