Table 1. Causes of RP from different splicing factors.
Types of splicing factors | Causes of RP | References |
PRPF3 | Altered PRPF3 amino acids are highly conserved in all known PRPF3 orthologues | [5] |
PRPF4 | Haploinsufficiency and dominant-negative effects | [6] |
PRPF6 | Abnormal localization of endogenous PRPF6 within the nucleus | [7] |
PRPF8 | C-terminus exhibit a high degree of conservation | [8] |
PRPF31 | Incomplete penetrance; reduced levels of gene expression from the mutated allele | [9]–[12] |
PR9 | Proliferation and migration were decreased; FSCN2 and BBS2 were down-regulated in the mutated cells; pre-mRNA splicing of the FSCN2 gene was markedly affected | [13]–[14] |
SNRNP200 | A defect in hBrr2-dependent RNA unwinding and a consequent defect in spliceosome activation | [15] |
PRPF3: Pre-mRNA processing factor 3; PR9: Pre-mRNA 9; SNRNP200: Small nuclear ribonucleoprotein particle 200; FSCN2: Fascin actin-bunding protein 2; BBS2: Bardet-biedl syndrome 2; RP: Retinitis pigmentosa.