Ψ GUCY2F - Caperea marginata

Reference Gene:
Job_ID:
Curator:
GlossID Species Gene Loss Mechanism Loss Type Lineage Specific Evidence Accession Nr.
GL_VPS5RW Caperea marginata 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 2nt deletion in exon 2.