Dysregulation of Spliceosomes Complex Induces Retinitis Pigmentosa –Like Characteristics in sf3b4-Depleted Zebrafish

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. 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.

Source: American Journal of Pathology - May 30, 2023 Category: Pathology Authors: Zulvikar Syambani Ulhaq, Keigo Okamoto, Yukiko Ogino, William Ka Fai Tse Tags: Regular article Source Type: research