Ψ CASP14 - Dugong dugon

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_WEK3BR Dugong dugon LOF (frameshift, premature stop, ss) Full No Genomic

Statements

Type Excerpt DOI
Mutation Description "By contrast, the CASP14 gene is conserved only in the manatee, whereas it is disrupted by a premature stop codon and a frameshift mutation in the dugong (Fig. 6). All disruptive mutations of CASP14 were present in three dugong genome sequences that were available in GenBank as results of independent projects (Supplementary Fig. S9)." 10.1038/s41598-024-60099-2
Mutation Description "We report that the coding sequence of the important skin barrier gene FLG is truncated and the FLG-processing protease, caspase-14, is inactivated by mutations in the dugong." 10.1038/s41598-024-60099-2