Rpgrip1 is required for rod outer segment development and ciliary protein trafcking in zebrafsh

Title: Rpgrip1 is required for rod outer segment development and ciliary protein trafcking in zebrafsh
Authors: Raghupathy, Rakesh K.
Zhang, Xun
Liu, Fei
Kennedy, Breandán
et al.
Permanent link: http://hdl.handle.net/10197/10208
Date: 4-Dec-2017
Online since: 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.
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
Keywords: Biochemistry and Cell BiologyBiomedicalBasic sciencePediatricNeurodegenerativeGeneticsEye diseaseNeurosciencesRare diseasesEyeBiological and endogenous factorsDiseases of vision
DOI: 10.1038/s41598-017-12838-x
Language: en
Status of Item: Peer reviewed
Appears in Collections:Biomolecular and Biomedical Science Research Collection

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