Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Gene expression in mouse retinas with cone cyclic nucleotide gated channel deficiencies

ABSTRACT: The cone photoreceptor cyclic nucleotide-gated (CNG) channel is essential for central and color vision and visual acuity. Mutations in the channel subunits CNGA3 and CNGB3 are associated with achromatopsia and cone dystrophy. We investigated the gene expression profiles in mouse retina with CNG channel deficiency on a cone-dominant background, i.e., CNGA3-/-/Nrl-/- and CNGB3-/-/Nrl-/- mice, relative to Nrl-/- mice.

ORGANISM(S): Mus musculus

PROVIDER: GSE40982 | GEO | 2013/07/03

SECONDARY ACCESSION(S): PRJNA175488

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Similar Datasets

Gene expression in mouse retinas with cone cyclic nucleotide gated channel deficiencies

Project description:The cone photoreceptor cyclic nucleotide-gated (CNG) channel is essential for central and color vision and visual acuity. Mutations in the channel subunits CNGA3 and CNGB3 are associated with achromatopsia and cone dystrophy. We investigated the gene expression profiles in mouse retina with CNG channel deficiency on a cone-dominant background, i.e., CNGA3-/-/Nrl-/- and CNGB3-/-/Nrl-/- mice, relative to Nrl-/- mice. Total RNA was isolated from 2 retinas per animal (CNGA3-/-/Nrl-/-, CNGB3-/-/Nrl-/-, and Nrl-/- mice). The background strain for these mutations was C57bl/6.

2013-07-03 | E-GEOD-40982 | biostudies-arrayexpress

Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retina

Project description:Cone photoreceptors are the primary initiator of visual transduction in the human retina. Dysfunction or death of rod photoreceptors precedes cone loss in many retinal and macular degenerative diseases, suggesting a rod-dependent trophic support for cone survival. Rod differentiation and homeostasis are dependent on the basic motif leucine zipper transcription factor NRL. The loss of Nrl in mice (Nrl-/-) results in a retina with predominantly S-opsin containing cones that exhibit molecular and functional characteristics of WT cones. Here we report that Nrl-/- retina undergoes a rapid but transient period of degeneration in early adulthood, with cone apoptosis, retinal detachment, alterations in retinal vessel structure, and activation and translocation of retinal microglia. However, cone degeneration stabilizes by four months of age, resulting in a thinned but intact outer nuclear layer with residual cones expressing S- and M-opsins and a preserved photopic ERG. At this stage, microglia translocate back to the inner retina and reacquire a quiescent morphology. Gene profiling analysis during the period of transient degeneration reveals misregulation of stress response and inflammation genes, implying their involvement in cone death. The Nrl-/- retina illustrates the long-term viability of cones in the absence of rods and may serve as a model for elucidating mechanisms of cone homeostasis and degeneration that would be relevant to understanding diseases of the cone-dominant human macula. Targets were generated from a pair of retinas (one Nrl-/- mouse) per biological replicate. Four biological replicates were generated for each of the five aging timepoints (1, 2, 4, 6, and 10 months post natal).

2011-11-15 | E-GEOD-33674 | biostudies-arrayexpress

Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retina

2011-11-15 | GSE33674 | GEO

Investigating cone photoreceptor development using patient-derived NRLnull retinal organoids

Project description:Photoreceptor loss is a leading cause of blindness, but mechanisms underlying photoreceptor degeneration are not well understood. Treatment strategies would benefit from an improved understanding of gene-expression patterns directing photoreceptor development, as many genes are implicated in both development and degeneration. Neural retina leucine zipper (NRL) is critical for rod photoreceptor genesis and degeneration, with NRL mutations known to cause enhanced S-cone syndrome and retinitis pigmentosa. While murine Nrl loss has been characterized, studies of human NRL can identify important insights for human retinal disease. Here we utilized human organoid models of retinal development to molecularly define developmental alterations in a human model of NRL loss. Consistent with the function of NRL in rod fate specification, human retinal organoids lacking NRL develop S-opsin dominant photoreceptor populations. We report generation of two distinct S-opsin expressing populations in NRL null retinal organoids and identify MEF2C as a candidate regulator of cone development.

2020-01-15 | GSE143669 | GEO

Structure of the human cone photoreceptor cyclic nucleotide-gated channel.

Project description: Not available

| S-EPMC8776609 | biostudies-literature

Generation, transcriptome profiling, and functional validation of single cells from cone-enriched human retinal organoids

Project description:The macula of the retina has a high ratio of cones to rods and is critical for central vision and visual acuity. Here we report the generation, transcriptome profiling, and functional validation of single cells from cone-enriched human retinal organoids differentiated from hESCs. Single-cell RNA-seq of 8-month retinal organoids identified clusters of cone and rod photoreceptors and confirmed the cone enrichment initially revealed by immunostaining. Collectively, we have established cone-enriched retinal organoids and a reference of transcriptomes that are rich resources for retinal studies.

2019-04-25 | GSE119343 | GEO

Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency.

Project description: Not available

| S-EPMC3365688 | biostudies-literature

Structural basis of calmodulin modulation of the rod cyclic nucleotide-gated channel (LiP-MS)

Project description:The aim of the project was to characterize structural changes that occur on the rod cyclic nucleotide-gated channel upon interaction with calmodulin (CaM) directly in the native membrane.

2023-04-06 | PXD038768 | Pride

Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3.

Project description: Not available

| S-EPMC22124 | biostudies-literature

Structural basis of calmodulin modulation of the rod cyclic nucleotide-gated channel (XL-MS)

Project description:We used chemical crosslinking mass spectrometry to study the organization and the interaction of the bovine rod outer segment cyclic nugleotide-gated channel with calmodulin. The aims of the study were to identify the D-helix that could not be resolved with cryo-EM and gain further insights into the protein organization.

2023-04-06 | PXD038640 | Pride

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data