Ψ PCSK9 - Desmodus rotundus

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

Statements

Type Excerpt DOI
Mutation Description "Chiroptera is another order in which PCSK9 has apparently been inactivated in all species. Furthermore, observed levels of gene degradation were generally more extensive than in Carnivora, Pholidota or Ruminantia (Cetartiodactyla). No sequences homologous to the gene’s coding region were preserved in 19 of the 37 species analysed, and the entire gene sequence (including the long 3′ UTR) was lost in two of them (ST2)." 10.1007/s10709-021-00113-x
Timing of Loss "This high level of gene degradation greatly complicates the identification of sequence or structural commonalities that could help illuminate the evolutionary history of PCSK9 in Chiroptera. Indeed, among the eleven families represented, there were only two cases in which species from different families shared protein-inactivating alterations (Fig. 6): (a) structural defects, including an identical deletion of all the sequences corresponding to exon 12 after codon 671 (as well as an internal 30-bp deletion in exon 12) in Phyllostomidae, Mormoopidae and Noctilionidae suggest that PCSK9 was inactivated before the latter’s divergence, estimated at about 49 My bp (Shi and Rabosky 2015); and (b) a deletion extending from the BSND-PCSK9 intergenic region to a few bases after PCSK9’s stop codon in Vespertilionidae and the Brazilian free-tailed bat (Tadarida brasiliensis) (Molossidae), which diverged ~ 54 My bp (Shi and Rabosky 2015)." 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 (Chiroptera).