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Genetic mutations in aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) cause photoreceptor degeneration associated with Leber congenital amaurosis 4 (LCA4) in human patients. Here we report retinal phenotypes of a zebrafish  aipl1  mutant,  gold rush (gosh ). In zebrafish, there are two  aipl1  genes,  aipl1a  and  aipl1b , which are expressed mainly in rods and cones, respectively. The  gosh  mutant gene encodes cone-specific  aipl1, aipl1b . Cone photoreceptors undergo progressive degeneration in the  gosh  mutant, indicating that  aipl1b  is required for cone survival. Furthermore, the cone-specific subunit of cGMP phosphodiesterase 6 (Pde6c) is markedly decreased in the  gosh  mutant, and the  gosh  mutation genetically interacts with zebrafish  pde6c  mutation  eclipse (els ). These data suggest that Aipl1 is required for Pde6c stability and function. In addition to Pde6c, we found that zebrafish cone-specific guanylate cyclase, zGc3, is also decreased in the  gosh  and  els  mutants. Furthermore, zGc3 knockdown embryos showed a marked reduction in Pde6c. These observations illustrate the interdependence of cGMP metabolism regulators between Aipl1, Pde6c, and Gc3 in photoreceptors.

Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish