Pre-mRNA splicing and retinitis pigmentosa

Daniel Mordes, Xiaoyan Luo, Amar Kar, David Kuo, Lili Xu, Kazuo Fushimi, Guowu Yu, Paul Sternberg, Jane Y. Wu*

*Corresponding author for this work

Research output: Contribution to journalReview article

84 Scopus citations

Abstract

Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) genes identified, four encode ubiquitously expressed proteins involved in pre-mRNA splicing, demonstrating the important role that pre-mRNA splicing plays in the pathogenesis of retinal degeneration. This review focuses on recent progress in identifying adRP mutations in genes encoding pre-mRNA splicing factors and the potential underlying molecular mechanisms.

Original languageEnglish (US)
Pages (from-to)1259-1271
Number of pages13
JournalMolecular vision
Volume12
StatePublished - Oct 26 2006

ASJC Scopus subject areas

  • Ophthalmology

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    Mordes, D., Luo, X., Kar, A., Kuo, D., Xu, L., Fushimi, K., Yu, G., Sternberg, P., & Wu, J. Y. (2006). Pre-mRNA splicing and retinitis pigmentosa. Molecular vision, 12, 1259-1271.