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Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish.
Raghupathy, Rakesh K; Zhang, Xun; Liu, Fei; Alhasani, Reem H; Biswas, Lincoln; Akhtar, Saeed; Pan, Luyuan; Moens, Cecilia B; Li, Wenchang; Liu, Mugen; Kennedy, Breandan N; Shu, Xinhua.
Afiliación
  • Raghupathy RK; Department of Life Sciences, Glasgow Caledonian University, Glasgow, G4 0BA, UK.
  • Zhang X; Department of Life Sciences, Glasgow Caledonian University, Glasgow, G4 0BA, UK.
  • Liu F; Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, P.R. China.
  • Alhasani RH; Department of Life Sciences, Glasgow Caledonian University, Glasgow, G4 0BA, UK.
  • Biswas L; Department of Life Sciences, Glasgow Caledonian University, Glasgow, G4 0BA, UK.
  • Akhtar S; Cornea Research Chair, Department of Optometry, King Saud University, PO Box 10219, Riyadh, 11433, Saudi Arabia.
  • Pan L; Division of Basic Science, Fred Hutchinson Cancer Research Center, Seattle, WA 98109-1024, USA.
  • Moens CB; Division of Basic Science, Fred Hutchinson Cancer Research Center, Seattle, WA 98109-1024, USA.
  • Li W; School of Psychology and Neuroscience, University of St Andrews, St Andrews, KY16 9AJ, UK.
  • Liu M; Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, P.R. China.
  • Kennedy BN; UCD Conway Institute & UCD School of Biomolecular and Biomedical Sciences, University College Dublin, Dublin, D04 V1W8, Ireland.
  • Shu X; Department of Life Sciences, Glasgow Caledonian University, Glasgow, G4 0BA, UK. Xinhua.Shu@gcu.ac.uk.
Sci Rep ; 7(1): 16881, 2017 12 04.
Article en En | MEDLINE | ID: mdl-29203866
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.
Asunto(s)

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Segmento Externo de la Célula en Bastón / Pez Cebra / Cilios / Proteínas de Pez Cebra Límite: Animals Idioma: En Revista: Sci Rep Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Segmento Externo de la Célula en Bastón / Pez Cebra / Cilios / Proteínas de Pez Cebra Límite: Animals Idioma: En Revista: Sci Rep Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido