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

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Expression

Gene	Antibody	Fish	Conditions	Stage	Qualifier	Anatomy	Assay	Figure
eys	Ab1-eys	eys^sny10/sny10	standard conditions	Days 45-89	Not Detected	retina	IHC	Fig. 1
eys	Ab1-eys	eys^sny14/sny14	standard conditions	Days 45-89	Not Detected	retina	IHC	Fig. 1
eys	Ab1-eys	WT	control	Days 45-89		retina	IHC	Fig. 1
eys	Ab1-eys	WT	control	Days 45-89		retinal rod cell basal region	IHC	Fig. 1
gnat1		eys^sny10/sny10	standard conditions	Adult		retina	RTPCR	Fig. 6
gnat1		eys^sny10/sny10	standard conditions	Days 45-89		retina	RTPCR	Fig. 6
gnat1		eys^sny14/sny14	standard conditions	Days 45-89		retina	RTPCR	Fig. 6
gnat1		eys^sny14/sny14	standard conditions	Adult		retina	RTPCR	Fig. 6
gnat1		WT	control	Days 45-89		retina	RTPCR	Fig. 6
gnat1		WT	control	Adult		retina	RTPCR	Fig. 6

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Phenotype

Fish	Conditions	Stage	Phenotype	Figure
eys^sny10/sny10	standard conditions	Days 7-13	retinal cone cell optical quality, abnormal	Fig. 3
eys^sny10/sny10	standard conditions	Days 30-44	retinal cone cell morphology, abnormal	Fig. 3
eys^sny10/sny10	standard conditions	Days 30-44	retinal rod cell morphology, normal	Fig. 3
eys^sny10/sny10	standard conditions	Days 45-89	retinal rod cell normal amount, normal	Fig. 6
eys^sny10/sny10	standard conditions	Adult	retina gnat1 expression decreased amount, abnormal	Fig. 6
eys^sny10/sny10	standard conditions	Adult	retina opn1mw1 expression decreased amount, abnormal	Fig. 5
eys^sny10/sny10	standard conditions	Adult	retina opn1sw1 expression decreased amount, abnormal	Fig. 5
eys^sny10/sny10	standard conditions	Adult	retina opn1sw2 expression decreased amount, abnormal	Fig. 5
eys^sny10/sny10	standard conditions	Adult	retina rho expression decreased amount, abnormal	Fig. 5
eys^sny10/sny10	standard conditions	Adult	retina ab1-opn1mw1 labeling decreased amount, abnormal	Fig. 4

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Mutations / Transgenics

Allele	Type	Affected Genomic Region
sny10	Small Deletion	eys
sny13	Small Deletion	eys
sny14	Small Deletion	eys
sny593	Small Deletion	eys

Human Disease / Model

Human Disease	Fish	Conditions	Evidence
retinitis pigmentosa			TAS

Sequence Targeting Reagents

Target	Reagent	Reagent Type
eys	CRISPR1-eys	CRISPR
eys	CRISPR2-eys	CRISPR
eys	CRISPR3-eys	CRISPR

Fish

Fish
eys^sny10/sny10
eys^sny10/+
eys^sny14/sny14
eys^sny14/+
WT

Antibodies

Orthology

Engineered Foreign Genes

Mapping

Yu et al., 2016 ZDB-PUB-161016-10 PMID:27737822

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

Yu et al., 2016

ZDB-PUB-161016-10
PMID:27737822