doi:10.3969/j.issn.1674-490X.2023.01.002

Abstract

Abstract: Retinitis pigmentosa(RP)is an inherited disease of progressive damage to visual cells with genotypic and phenotypic heterogeneity. Up to now, 103 RP pathogenic genes have been identified, among which there is a type of genes(PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, RP9, and DHX38)that is related to pre-mRNA splicing. This type of genes is widely expressed throughout the body, but its mutation, the mechanism behind the disease that causes this tissue-specific phenotype of RP is currently unclear. This paper summarized the research progress in recent years,introduced the splicing process of pre-mRNA, the role of pre-mRNA splicing factors in the splicing process, and the disease model of RP caused by pre-mRNA splicing factors, and discussed the mutations of pre-mRNA splicing factors contribute to the pathogenic mechanism of RP.

Key words: retinitis pigmentosa, pre-mRNA processing factors, disease models, pathogenic mechanism

CLC Number:

R774.1

References

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