Ψ CORT - Orcinus orca

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_D5EANL Orcinus orca LOF (frameshift, premature stop, ss) Full Yes Multiple individual SRA XM_004286730.2

Statements

Type Excerpt DOI
Mutation Description "Further mutational evidence revealed that in Odontoceti (toothed whales and dolphins), all Delphinoidea, including Delphinidae (dolphins, e.g. Tursiops truncatus, Orcinus orca), Phocoenidae (porpoises, e.g. Phocoena phocoena), and Monodontidae (narwhal, Monodon monoceros, and beluga whale, Delphinapterus leucas), exhibited a conserved stop codon mutation in exon 1 (Fig. 1), with the exception of O. orca, which displays an arginine codon in the same position (CGA)." 10.1016/j.ygeno.2020.11.002
Mutation Description "In O. orca, Tursiops, and S. chinensis, exon 2 also presented a frameshift mutation (1-nucleotide deletion), a pattern not consistent with the species branching tree topology [31] (Fig. 1)." 10.1016/j.ygeno.2020.11.002
Mutation Description "Yet, given the striking conservation of the premature stop codon across the analysed Delphinoidea and the single nucleotide difference between both codons, the Orca exception likely represents a case of mutational reversion (Stop>Arg, TGA > CGA) [30]. Nonetheless, in addition to the premature stop codon, other mutations were identified, confirming the erosion of CORT in O. orca, such as frameshifts in exon 1 (a 31-nucleotide deletion and a 2-nucleotide insertion), conserved in all Delphinidae (Fig. 1)." 10.1016/j.ygeno.2020.11.002
Phenotypic "Both hyperglycaemia and insulin resistance were also reported in dolphins, in addition to reduced carbohydrate intake [45]; thus, besides modulating sleep, CORT loss could also be correlated with diet and energy balance within this group." 10.1016/j.ygeno.2020.11.002
Phenotypic "Thus, it is plausible to hypothesize that, in these species, CORT inactivation is related with changes in circadian rhythmicity, affecting sleep/vigilance behaviours, body temperature maintenance and/or activity patterns." 10.1016/j.ygeno.2020.11.002