title: Pre-mRNA splicing and retinitis pigmentosa.
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.
authors.affiliation: Department of Pediatrics, John F. Kennedy Center for Research on Human Development, Nashville, TN, USA.
authors.forename: Daniel
authors.initials: D
authors.lastname: Mordes
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Luo
authors.forename: Amar
authors.initials: A
authors.lastname: Kar
authors.forename: David
authors.initials: D
authors.lastname: Kuo
authors.forename: Lili
authors.initials: L
authors.lastname: Xu
authors.forename: Kazuo
authors.initials: K
authors.lastname: Fushimi
authors.forename: Guowu
authors.initials: G
authors.lastname: Yu
authors.forename: Paul
authors.initials: P
authors.lastname: Sternberg
authors.forename: Jane Y
authors.initials: JY
authors.lastname: Wu
mesh_terms: D000818:Animals; D006801:Humans; D019636:Neurodegenerative Diseases / Q000235:genetics; D012322:RNA Precursors; D012326:RNA Splicing; D012162:Retinal Degeneration / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: D012322:RNA Precursors