Редактирование: EYS (раздел)

==Publications==

{{medline-entry
|title=Ablation of [[EYS]] in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/28378834
|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.
|mesh-terms=* Actins
* Aging
* Animals
* Apoptosis
* Base Sequence
* Cone-Rod Dystrophies
* Electroretinography
* Eye Proteins
* Gene Deletion
* Gene Knockout Techniques
* Light Signal Transduction
* Rod Cell Outer Segment
* Transcription Activator-Like Effector Nucleases
* Vision, Ocular
* Zebrafish
* Zebrafish Proteins

|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5380955
}}
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