Pre-mRNA splicing and retinitis pigmentosa.

  title={Pre-mRNA splicing and retinitis pigmentosa.},
  author={Daniel A. Mordes and Xiaoyan Luo and A Reema Kar and David Kuo and Lili Xu and Kazuo Fushimi and Guowu Yu and Paul Sternberg and Jane Y. Wu},
  journal={Molecular vision},
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… CONTINUE READING