| Mutation Description |
"The lesser Egyptian jerboa (Jaculus jaculus), one of the species for which the data only yielded an incomplete coding sequence (< 30%) turned out to be interesting. Genomic coverage of the PCSK9 locus was far from ideal as it contained numerous gaps, but even with these limitations it was intriguing that only three exons could be detected. Close inspection revealed the presence of frameshift deletions in exons 6 and 11, the latter of which encompassing Cys600 and Cys601 (residue numbering of the human protein), as well as independent missense mutations affecting Cys562, Cys588, and Cys654 (SF8). As all suspected alterations were confirmed using primary sequence data, it is likely that PCSK9 has been inactivated in J. jaculus." |
10.1007/s10709-021-00113-x |
| Timing of Loss |
"It is possible that such inactivation occurred in a common ancestor of Zapodinae, Allactaginae and Dipodinae, but given the absence of unquestionable inactivating mutations (its only guaranteed "suspicious" alteration is C562Y), it is also possible that PCSK9 was still functional in such an ancestor—and indeed in the Gobi jerboa, A. bullata." |
10.1007/s10709-021-00113-x |
| Timing of Loss |
"Taken together, these results suggest that PCSK9 was independently inactivated in the Egyptian jerboa and the jumping mouse, but the possibility remains that inactivation took place in a common ancestor—and, in the latter case, the question at which point in dipodid phylogeny it occurred remains open." |
10.1007/s10709-021-00113-x |