Abstract
The SF3B4 gene encodes a highly conserved protein that plays a critical role in mRNA splicing, and mutations in this gene are known to cause Nager syndrome, a rare craniofacial disorder. Although SF3B4 expression is detected earlier in the optic vesicle than in the limb and somite, the role of SF3B4 in the eye is not well understood. Here, we investigate the function of sf3b4 in the retina by performing transcriptome profiles, immunostaining, and behavioral analysis of sf3b4-/- mutant zebrafish. Our findings suggest that dysregulation of the spliceosome complex affects not only craniofacial development but also retinogenesis. Our observation points to the fact that zebrafish lacking functional sf3b4 displayed characteristics similar to retinitis pigmentosa (RP), marked by severe retinal pigment epithelium (RPE) defects and rod degeneration. Pathway analysis revealed altered retinol metabolism and retinoic acid (RA) signaling in the sf3b4-/- mutants. Supplementation of RA rescued key cellular phenotypes observed in the sf3b4-/- mutants, offering potential therapeutic strategies for RP in the future. In conclusion, our study sheds light on the previously unknown role of SF3B4 in retinogenesis and provides insights into the underlying mechanisms of RP.
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