FIGURE 3.

Impacts of PRPF mutations on various biological processes in the retina. RP-related PRPF mutations primarily result in disrupted spliceosome assembly and defective RNA splicing, leading to subsequent alteration of splicing profile. Many of the affected genes are involved in important retinal functions, including phototransduction, retinol metabolism and photoreceptor disk, etc. More mis-spliced genes cluster in general biological processes, such as inflammation, apoptosis cytoskeleton, signalling pathway, etc. Noteworthy, splicing factors are enriched in the top category of mis-spliced genes affected by PRPF mutations, indicating a feedback loop that deteriorates the RNA splicing defect in retina. Furthermore, emerging evidence suggests that PRPF mutations may contribute to RP development via mechanisms beyond RNA splicing. The interrupted lines indicate likely direct effects of PRPF mutations on ciliogenesis, circadian rhythm and DNA repair.