Ψ GUCY2F - Pontoporia blainvillei
Reference Gene:
Job_ID:
Curator:
| GlossID | Species | Gene Loss Mechanism | Loss Type | Lineage Specific | Evidence | Accession Nr. |
|---|---|---|---|---|---|---|
| GL_MTUWIL | Pontoporia blainvillei | LOF (frameshift, premature stop, ss) | Full | No | Genomic |
Statements
| Type | Excerpt | DOI |
|---|---|---|
| Functional | "GUCY2D and GUCY2F both code for membrane-bound guanylate cyclases, known to be involved in the synthesis of cyclic GMP and expressed in both the rods and cones of the mammalian retina (Baehr et al. 2007; Karan et al. 2010)." | 10.1093/molbev/msaa070 |
| Mutation Description | "We also discovered the presence of frameshift mutations in the GUCY2F gene of some cetaceans, including those that have not been identified before as having mutations in cone specific genes, such as the franciscana Pontoporia blainvillei." | 10.1093/molbev/msaa070 |
| Phenotypic | "In double knockouts of both GUCY2D and GUCY2F mice, the phototransduction cascade ceases, but in GUCY2F knockouts there is no noticeable effect on rod or cone physiology (Karan et al. 2010)." | 10.1093/molbev/msaa070 |
Curator Observations
Authors used Illumina genomic libraries and coverage to investigate coding status of the target genes (See table 1). Authors identified a 4nt insertion in exon 4.