The gosh mutant gene encodes aipl1b.
(a) Schematic representation of human AIPL1 and zebrafish Aipl1b. FKBP and TPR domains are conserved. However, the zebrafish C-terminal region is not homologous to the PRD domain. In the gosh mutant, a nonsense mutation occurs in Gln413. (b) Phylogenetic tree of AIPL1 proteins of humans (Genbank no: AAF74023.1), mice (Genbank no: AAK77956.1), chicks (Genbank no: XP_001233085.3), Xenopus (Genbank no: XP_002933555.1), and zebrafish Aipl1a and Aipl1b. (c) Expression of aipl1a and aipl1b mRNAs in wild type at 72 hpf. aipl1b mRNA is expressed in the retina and the pineal eye (arrow). aipl1a mRNA is expressed in the brain, including the retina. Strong expression of aipl1a mRNA in the ventral patch of the retina. (d) Expression of aipl1a and aipl1b mRNAs in wild-type adult retina. aipl1b mRNA is expressed exclusively in cones, while aipl1a mRNA is expressed in rods and probably in short single (UV) cones (red arrowheads). ss, short single cone (red arrowheads); ls, long single cones (red outlined arrowhead); d, double cones (gray outlined arrowhead). (e) Expression of aipl1a and aipl1b mRNAs in wild-type and gosh mutant retinas at 72 hpf. aipl1b mRNA is markedly decreased in gosh mutant retinas, while aipl1a mRNA expression in ventral photoreceptors (arrows) is similar between wild-type and the gosh mutant retina.