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Review
. 2013 Aug;84(2):142-9.
doi: 10.1111/cge.12181. Epub 2013 Jun 5.

Alternative splicing and retinal degeneration

M M Liu  1 , D J Zack
Affiliations
Review

Alternative splicing and retinal degeneration

M M Liu et al. Clin Genet. 2013 Aug.

Abstract

Alternative splicing is highly regulated in tissue-specific and development-specific patterns, and it has been estimated that 15% of disease-causing point mutations affect pre-mRNA splicing. In this review, we consider the cis-acting splice site and trans-acting splicing factor mutations that affect pre-mRNA splicing and contribute to retinal degeneration. Numerous splice site mutations have been identified in retinitis pigmentosa (RP) and various cone-rod dystrophies. Mutations in alternatively spliced retina-specific exons of the widely expressed RPGR and COL2A1 genes lead primarily to X-linked RP and ocular variants of Stickler syndrome, respectively. Furthermore, mutations in general pre-mRNA splicing factors, such as PRPF31, PRPF8, and PRPF3, predominantly cause autosomal dominant RP. These findings suggest an important role for pre-mRNA splicing in retinal homeostasis and the pathogenesis of retinal degenerative diseases. The development of novel therapeutic strategies to modulate aberrant splicing, including small molecule-based therapies, has the potential to lead to new treatments for retinal degenerative diseases.

Keywords: alternative splicing; retinal degeneration; retinitis pigmentosa; small molecules.

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