| Mutation Description |
"In contrast, PCSK9 has clearly become non-functional in two Afrotheria species (the lesser hedgehog tenrec, Echinops telfairi and Talazac’s shrew tenrec, Microgale talazaci), as both carry multiple protein-inactivating defects strongly supported by the raw sequence data, including stop codons and frameshift insertions and deletions. Interestingly, both species belong to the family Tenrecidae, raising the possibility that PCSK9 pseudogenization is ancestral in tenrecs. However, there is no clear example of a shared inactivating alteration (the closest being a 1-bp deletion in one of the species overlapping with a 2-bp deletion in the other), so it is also formally possible that PCSK9 was independently lost in the two species." |
10.1007/s10709-021-00113-x |