@inproceedings{3b7c87cd191b4a29b1c74610f6741d79,
title = "Transcriptome analyses to investigate the pathogenesis of RNA splicing factor retinitis pigmentosa",
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 = "Next-Generation Sequencing, Prpf, RNA Splicing Factors, RNA-Seq, Retinitis Pigmentosa, Transcriptome",
author = "Farkas, \{Michael H.\} and Grant, \{Greg R.\} and Pierce, \{Eric A.\}",
year = "2012",
doi = "10.1007/978-1-4614-0631-0\_65",
language = "English",
isbn = "9781461406303",
series = "Advances in Experimental Medicine and Biology",
pages = "519--525",
editor = "Matthew LaVail and Robert Anderson and Christian Grimm and John Ash and Joe Hollyfield",
booktitle = "Retinal Degenerative Diseases",
}