Ψ PCSK9 - Equus zebra

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_8BH1UP Equus zebra Exon(s) deletion Full Yes Genomic

Statements

Type Excerpt DOI
Mutation Description "Perissodactyla is similar to Chiroptera, Pholidota and Carnivora in that PCSK9 has clearly become a pseudogene in all species. However, there are important differences. First, exon structure was remarkably preserved, with only one case of exon loss among the 12 species analysed (ST2). Furthermore, although there were multiple protein-inactivating mutations (frameshift insertions and deletions as well as nonsense point mutations) in all species, and many of these were shared by all members of a family, none of the protein-inactivating mutations was present in all species." 10.1007/s10709-021-00113-x
Timing of Loss "This raised the possibility that the inactivation of PCSK9 took place independently in different families. (...) Taken together, these results suggest that PCSK9 was still under significant selective pressure before the Hippomorpha-Ceratomorpha split, and that gene inactivation may have occurred independently in different Perissodactyla lineages." 10.1007/s10709-021-00113-x

Curator Observations

Although extensive gene erosion impedes the identification of a conserved ancestral mutation, this gene is apparently lost in all individuals of this lineage (Perissodactyla).