PUBLICATION

Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish

Authors
Yu, M., Liu, Y., Li, J., Natale, B.N., Cao, S., Wang, D., Amack, J.D., Hu, H.
ID
ZDB-PUB-161016-10
Date
2016
Source
Biology Open   5(11): 1662-1673 (Journal)
Registered Authors
Amack, Jeffrey
Keywords
Connecting cilia, Degeneration, Extracellular matrix, Photoreceptors, Retinal degeneration, Retinitis pigmentosa
MeSH Terms
none
PubMed
27737822 Full text @ Biol. Open
Abstract
Mutations in the extracellular matrix protein eyes shut homolog (EYS) cause photoreceptor degeneration in patients with retinitis pigmentosa 25. Functions of EYS remain poorly understood, due in part to the lack of an EYS gene in mouse. We investigated the localization of vertebrate EYS proteins and engineered loss-of-function alleles in zebrafish. Immunostaining indicated that EYS localized near the connecting cilium/transition zone in photoreceptors. EYS also strongly localized to the cone outer segments and weakly to the rod outer segments and cone terminals in primate retinas. Analysis of mutant EYS zebrafish revealed disruption of the ciliary pocket in cone photoreceptors, indicating that EYS is required for maintaining the integrity of the ciliary pocket lumen. Mutant zebrafish exhibited progressive loss of cone and rod photoreceptors. Our results indicate that EYS protein localization is species-dependent and that EYS is required for maintaining ciliary pocket morphology and survival of photoreceptors in zebrafish.
Genes / Markers
Figures
Figure Gallery (8 images)
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Expression
Phenotype
Mutations / Transgenics
Allele Construct Type Affected Genomic Region
sny10
    Small Deletion
    sny13
      Small Deletion
      sny14
        Small Deletion
        sny593
          Small Deletion
          1 - 4 of 4
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          Human Disease / Model
          Human Disease Fish Conditions Evidence
          retinitis pigmentosaTAS
          1 - 1 of 1
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          Sequence Targeting Reagents
          Target Reagent Reagent Type
          eysCRISPR1-eysCRISPR
          eysCRISPR2-eysCRISPR
          eysCRISPR3-eysCRISPR
          1 - 3 of 3
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          Fish
          Antibodies
          Orthology
          No data available
          Engineered Foreign Genes
          No data available
          Mapping
          No data available