Ψ F12 - Balaenoptera acutorostrata
Reference Gene:
Job_ID:
Curator:
| GlossID | Species | Gene Loss Mechanism | Loss Type | Lineage Specific | Evidence | Accession Nr. |
|---|---|---|---|---|---|---|
| GL_7WKHXG | Balaenoptera acutorostrata | LOF (frameshift, premature stop, ss) | Full | Yes | Multiple individual SRA | XM_028163412.2 |
Statements
| Type | Excerpt | DOI |
|---|---|---|
| Functional | "F12 initiates thrombus formation via the contact activation system(CAS) (26). F12 encodes a zymogen that autoactivates upon encoun-tering a variety of foreign or biological surfaces (27). The activatedzymogen functions as a serine protease that engages in a reciprocal ac-tivation cycle with the serine protease encoded by KLKB1, resulting inplatelet activation and the formation of a blood clot (26)." | 10.1126/sciadv.aaw6671 |
| Timing of Loss | "Our screen detected two blood coagulation-associated factors, F12 and KLKB1, that are specifically lost in cetaceans and no other analyzed mammal. Several shared inactivatingmutations show that both genes were lost in the cetacean stem lineage (Fig. 1A and figs. S4 and S5)." | 10.1126/sciadv.aaw6671 |
| Phenotypic | "While loss of KLKB1 protects from thrombosis by reducing the expression of F3 (coagulation or tissue factor III) (30), loss of F12 prevents activation on nitrogen microbubbles during diving. Because a vasoconstriction-induced reduction in blood vessel diameters and nitrogen microbubble formation increase the risk of thrombosis for frequent divers, the loss of both genes was likely beneficial for cetaceans." | 10.1126/sciadv.aaw6671 |
Curator Observations
Authors identified a conserved 2nt insertion in exon 4. Also reported in: Semba et al. 1998 [PMID:9678675], Yim et al. 2014 [PMID:24270359], Keane et al. 2015 [PMID:25565328], Warren et al. 2017 [PMID:28985367]