Ψ CAPN12 - Physeter catodon
Reference Gene:
Job_ID:
Curator:
| GlossID | Species | Gene Loss Mechanism | Loss Type | Lineage Specific | Evidence | Accession Nr. |
|---|---|---|---|---|---|---|
| GL_SV5NHR | Physeter catodon | LOF (frameshift, premature stop, ss) | Full | No | Multiple individual SRA | XM_028483948.2 |
Statements
| Type | Excerpt | DOI |
|---|---|---|
| Mutation Description | "We found multiple instances of loss-of-function in proteases associated with skin function. For instance, the cysteine-protease CAPN12 has been lost through different, non-overlapping premature stop codons and frameshifts in the sperm whale, bottlenose dolphin, bowhead and minke whale." | 10.1093/gbe/evx187 |
| Methodology & Validation | "To further ensure that assembly artifacts are not mistaken for gene losses, we used the Trace Archive Nucleotide BLAST to search inside RNA-Seq sets SRX220358, SRX220357, SRX220356, SRX220355, SRX220354, SRX220353, SRX220352, SRX220351 and SRX220350." | 10.1093/gbe/evx187 |
| Phenotypic | "This might be related to the lack of hair in cetaceans since this protease is preferentially expressed at the cortex of the hair follicle (Dear et al. 2000)." | 10.1093/gbe/evx187 |
Curator Observations
Authors indicate this gene is also lost in bottlenose dolphin, bowhead and minke whale, but do not provide further details. See supplementary material for more details.