Chapter

Retinal Degenerative Diseases

Volume 723 of the series Advances in Experimental Medicine and Biology pp 519-525

Date:

Transcriptome Analyses to Investigate the Pathogenesis of RNA Splicing Factor Retinitis Pigmentosa

  • Michael H. FarkasAffiliated withOcular Genomics Institute, Berman Gund Laboratory, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary
  • , Greg R. GrantAffiliated withPenn Center for Bioinformatics, University of Pennsylvania
  • , Eric A. PierceAffiliated withOcular Genomics Institute, Berman Gund Laboratory, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary Email author 

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Abstract

RNA-splicing factor retinitis pigmentosa (RP) is caused by mutations in components of the spliceosome. RP is an inherited blinding disorder characterized by late-onset retinal degeneration. Currently, mutations in five genes that encode components of the spliceosome have been identified to cause autosomal dominant RP. These are the pre-mRNA processing factors 3, 8, and 31 (PRPF3, 8, and 31), RP9, and SNRNP200. It is unknown how mutations in these ubiquitously expressed genes lead to retina-specific disease. It is hypothesized that mutations in these genes lead to aberrant splicing of pre-mRNA, which in turn causes retinal degeneration. To fully investigate this hypothesis requires the ability to accurately interrogate the transcriptomes of the affected tissue. The recent development of next-generation sequencing-based RNA sequencing (RNA-seq) makes these types of studies possible. This chapter will focus on the RNA splicing factor forms of RP and the application of RNA-seq to study the pathogenesis of these diseases.

Keywords

RNA-seq Next-generation sequencing Retinitis pigmentosa RNA splicing factors Prpf Transcriptome