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Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

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  • Zhaojing Lu
  • Xuebin Hu
  • Fei Liu
  • Dinesh C Soares
  • Xiliang Liu
  • Shanshan Yu
  • Meng Gao
  • Shanshan Han
  • Yayun Qin
  • Chang Li
  • Tao Jiang
  • Daji Luo
  • An-Yuan Guo
  • Zhaohui Tang
  • Mugen Liu

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Original languageEnglish
Pages (from-to)46098
JournalScientific Reports
Volume7
Early online date5 Apr 2017
DOIs
Publication statusE-pub ahead of print - 5 Apr 2017

Abstract

Mutations in EYS are associated with autosomal recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) however, the function of EYS and the molecular mechanisms of how these mutations cause retinal degeneration are still unclear. Because EYS is absent in mouse and rat, and the structure of the retina differs substantially between humans and Drosophila, we utilised zebrafish as a model organism to study the function of EYS in the retina. We constructed an EYS-knockout zebrafish-line by TALEN technology which showed visual impairment at an early age, while the histological and immunofluorescence assays indicated the presence of progressive retinal degeneration with a cone predominately affected pattern. These phenotypes recapitulate the clinical manifestations of arCRD patients. Furthermore, the EYS(-/-) zebrafish also showed mislocalisation of certain outer segment proteins (rhodopsin, opn1lw, opn1sw1, GNB3 and PRPH2), and disruption of actin filaments in photoreceptors. Protein mislocalisation may, therefore, disrupt the function of cones and rods in these zebrafish and cause photoreceptor death. Collectively, these results point to a novel role for EYS in maintaining the morphological structure of F-actin and in protein transport, loss of this function might be the trigger for the resultant cellular events that ultimately lead to photoreceptor death.

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