Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish.
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ABSTRACT:
SUBMITTER: Iribarne M
PROVIDER: S-EPMC5381001 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
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Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish.
Iribarne Maria M Nishiwaki Yuko Y Nakamura Shohei S Araragi Masato M Oguri Eri E Masai Ichiro I
Scientific reports 20170405
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 ...[more]
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