PUBLICATION

C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish

Authors

Corral-Serrano, J.C., Messchaert, M., Dona, M., Peters, T.A., Kamminga, L.M., van Wijk, E., Collin, R.W.J.

ID

ZDB-PUB-180628-8

Date

2018

Source

Scientific Reports 8: 9675 (Journal)

Registered Authors

Collin, Rob, Dona, Margo, Kamminga, Leonie, Messchaert, Muriel, Peter, Theo, van Wijk, Erwin

Keywords

none

MeSH Terms

Mice
Morphogenesis/genetics
Morphogenesis/physiology
Photic Stimulation
Zebrafish/embryology*
Zebrafish/metabolism*
Animals, Genetically Modified
Immunohistochemistry
Electroretinography
Zebrafish Proteins/genetics
Zebrafish Proteins/metabolism*
Animals

(all 12)

PubMed

29946172 Full text @ Sci. Rep.

Abstract

Mutations in C2orf71 are causative for autosomal recessive retinitis pigmentosa and occasionally cone-rod dystrophy. We have recently discovered that the protein encoded by this gene is important for modulation of the ciliary membrane through the recruitment of an actin assembly module, and have therefore renamed the gene to PCARE (photoreceptor cilium actin regulator). Here, we report on the identification of two copies of the c2orf71/pcare gene in zebrafish, pcare1 and pcare2. To study the role of the gene most similar to human PCARE, pcare1, we have generated a stable pcare1 mutant zebrafish model (designated pcare1 ^{rmc100/rmc100} ) in which the coding sequence was disrupted using CRISPR/Cas9 technology. Retinas of both embryonic (5 dpf) and adult (6 mpf) pcare1 ^{rmc100/rmc100} zebrafish display a clear disorganization of photoreceptor outer segments, resembling the phenotype observed in Pcare^-/- mice. Optokinetic response and visual motor response measurements indicated visual impairment in pcare1 ^{rmc100/rmc100} zebrafish larvae at 5 dpf. In addition, electroretinogram measurements showed decreased b-wave amplitudes in pcare1 ^{rmc100/rmc100} zebrafish as compared to age- and strain-matched wild-type larvae, indicating a defect in the transretinal current. Altogether, our data show that lack of pcare1 causes a retinal phenotype in zebrafish and indicate that the function of the PCARE gene is conserved across species.

Genes / Markers

Figures

Show all Figures

Expression

Phenotype

Fish	Conditions	Stage	Phenotype	Figure
pcare1^{rmc100/rmc100}	standard conditions	Day 5	photoreceptor outer segment layer disorganized, abnormal	Fig. 3
pcare1^{rmc100/rmc100}	standard conditions	Day 5	photoreceptor outer segment layer morphology, abnormal	Fig. 3
pcare1^{rmc100/rmc100}	standard conditions	Adult	optomotor response decreased process quality, abnormal	Fig. 3
pcare1^{rmc100/rmc100}	standard conditions	Adult	photoreceptor inner segment layer decreased thickness, abnormal	Fig. 3
pcare1^{rmc100/rmc100}	standard conditions	Adult	photoreceptor outer segment layer decreased thickness, abnormal	Fig. 3
pcare1^{rmc100/rmc100}	standard conditions	Adult	photoreceptor outer segment layer disorganized, abnormal	Fig. 3
pcare1^{rmc100/rmc100}	standard conditions	Adult	photoreceptor outer segment layer morphology, abnormal	Fig. 3
pcare1^{rmc100/rmc100}	standard conditions	Adult	visual behavior decreased process quality, abnormal	Fig. 3

1 - 8 of 8

Show

Mutations / Transgenics

Allele	Construct	Type	Affected Genomic Region
rmc100		Small Deletion	pcare1

Human Disease / Model

Sequence Targeting Reagents

Fish

Fish
pcare1^{rmc100/rmc100}
WT

Antibodies

Name	Type	Antigen Genes	Isotypes	Host Organism
Ab2-gnat2	polyclonal		IgG	Rabbit
Ab5-rho	monoclonal	exorh rho		Mouse

Orthology

Gene	Orthology
pcare1
pcare2

Engineered Foreign Genes

Mapping

Corral-Serrano et al., 2018 ZDB-PUB-180628-8 PMID:29946172

C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish

Corral-Serrano et al., 2018

ZDB-PUB-180628-8
PMID:29946172