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Rpgrip1 is required for rod outer segment development and ciliary protein trafcking in zebrafsh
Date Issued
2017-12-04
Date Available
2019-04-30T08:40:40Z
Abstract
Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy. RPGRIP1 interacts with other retinal disease-causing proteins and has been proposed to have a role in ciliary protein transport; however, its function remains elusive. Here, we describe a new zebrafish model carrying a nonsense mutation in the rpgrip1 gene. Rpgrip1homozygous mutants do not form rod outer segments and display mislocalization of rhodopsin, suggesting a role for RPGRIP1 in rhodopsin-bearing vesicle trafficking. Furthermore, Rab8, the key regulator of rhodopsin ciliary trafficking, was mislocalized in photoreceptor cells of rpgrip1 mutants. The degeneration of rod cells is early onset, followed by the death of cone cells. These phenotypes are similar to that observed in LCA and juvenile RP patients. Our data indicate RPGRIP1 is necessary for rod outer segment development through regulating ciliary protein trafficking. The rpgrip1 mutant zebrafish may provide a platform for developing therapeutic treatments for RP patients.
Other Sponsorship
Deanship of Scientific Research at King Saud University
EU INTERREG NEW noPILLS programme
Royal Society of London
National Eye Research Centre
Visual Research Trust
Fight for Sight
W.H. Ross Foundation
Rosetrees Trust
Glasgow Children’s Hospital Charity
Type of Material
Journal Article
Publisher
Springer
Journal
Scientific Reports
Volume
7
Issue
16881
Start Page
1
End Page
14
Copyright (Published Version)
2017 the Authors
Language
English
Status of Item
Peer reviewed
ISSN
2045-2322
This item is made available under a Creative Commons License
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Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish.pdf
Size
4.27 MB
Format
Owning collection
Scopus© citations
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