Ψ KLK8 - Orcinus orca

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_QI0IK7 Orcinus orca LOF (frameshift, premature stop, ss) Full Yes Multiple individual SRA XM_033417284.2

Statements

Type Excerpt DOI
Functional "First, in the skin of terrestrial mammals, KLK8 activates antimicrobial proteolytic cascades in sweat (Eissa et al. 2011). As neither cetaceans nor manatees have sweat glands (Berta et al. 2015; Mouton and Botha 2012; Rodrigues et al. 2014), in contrast to the semi-aquatic pinnipeds and terrestrial mammals that have an intact KLK8 gene, the antimicrobial of functions of KLK8 are likely no longer useful for aquatic mammals. Furthermore, the epidermis of KLK8 knockout mouse exhibits delayed recovery from the UVB-induced inflammation (Kirihara et al. 2003). UVB-induced inflammation might be less important for fully-aquatic mammals that live in an environment where UVB light penetration substantially decreases after a few meters of depths (Tedetti and Sempere 2006).Finally, KLK8 also plays a role in keratinocyte proliferation and desquamation (Kishibe et al. 2007). In dolphins, it is known that the desquamation rate of the outer most epidermal cell layers is 8.5 times faster than in humans, which is likely an adaptation that maintains a smooth surface and limits microbe colonization in the aquatic environment (Hicks et al. 1985), and may have further contributed to KLK8 loss in dolphin." 10.1093/gbe/evx239
Mutation Description "Our inspection revealed 12 mutations that would inactivate KLK8 in the bottlenose dolphin, killer whale, minke whale, and the manatee (fig. 1). These mutations include frameshifting deletions, mutations that disrupt the conserved splice site dinucleotides, mutations that terminate translation by creating in-frame stop codons, and the entire deletion of the coding exon 5." 10.1093/gbe/evx239
Timing of Loss "Our inspection of the genome alignments also revealed that the exon 5 deletion in dolphin and killer whale has the same breakpoint (fig. 2B). This suggests that the exon 5 deletion occurred in the common ancestor of both species, and rules out the possibility of an assembly error in two inde pendently assembled genomes. In addition, the presence of a shared in-frame stop codon in the third KLK8 exon further corroborates that KLK8 was lost in the common ancestor of dolphin and killer whale." 10.1093/gbe/evx239
Other "It should be noted that whereas kallikreins comprise a gene family, the protein and nucleotide sequence of the different members are sufficiently diverged from each other. In particular, KLK8 has at most 51% nucleotide identity to other KLK genes (Prassas et al. 2015)." 10.1093/gbe/evx239

Curator Observations

LIneage specific to Odontoceti.