Pre-mRNA splicing and retinitis pigmentosa.
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.
Mordes
Daniel
D
Department of Pediatrics, John F. Kennedy Center for Research on Human Development, Nashville, TN, USA.
Luo
Xiaoyan
X
Kar
Amar
A
Kuo
David
D
Xu
Lili
L
Fushimi
Kazuo
K
Yu
Guowu
G
Sternberg
Paul
P
Wu
Jane Y
JY
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
D012322:RNA Precursors