PUBLICATION
The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes
- Authors
- Chen, J., Rattner, A., and Nathans, J.
- ID
- ZDB-PUB-080520-1
- Date
- 2005
- Source
- The Journal of neuroscience : the official journal of the Society for Neuroscience 25(1): 118-129 (Journal)
- Registered Authors
- Keywords
- none
- MeSH Terms
-
- Mice
- Receptors, Cytoplasmic and Nuclear/biosynthesis
- Receptors, Cytoplasmic and Nuclear/genetics
- Receptors, Cytoplasmic and Nuclear/physiology*
- Animals
- Eye Proteins/biosynthesis
- Eye Proteins/physiology*
- Repressor Proteins/biosynthesis
- Repressor Proteins/physiology*
- Macaca
- Mice, Mutant Strains
- Molecular Sequence Data
- Transfection
- Retinal Rod Photoreceptor Cells/metabolism
- Retinal Rod Photoreceptor Cells/physiology*
- Amino Acid Sequence
- Cells, Cultured
- Humans
- Nucleic Acid Hybridization
- Conserved Sequence
- Orphan Nuclear Receptors
- Retinal Cone Photoreceptor Cells/metabolism*
- DNA-Binding Proteins/physiology
- Transducin/analysis
- Point Mutation
- Oligonucleotide Array Sequence Analysis
- Transcription Factors/biosynthesis
- Transcription Factors/genetics
- Transcription Factors/physiology*
- Zebrafish
- PubMed
- 15634773 Full text @ J. Neurosci.
Citation
Chen, J., Rattner, A., and Nathans, J. (2005) The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. The Journal of neuroscience : the official journal of the Society for Neuroscience. 25(1):118-129.
Abstract
This study addresses one genetic regulatory mechanism that establishes the distinct identities of rod and cone photoreceptors. Previous work has shown that mutations in either humans or mice in the gene coding for photoreceptor-specific nuclear receptor Nr2e3 cause a progressive retinal degeneration characterized by increased numbers of short-wave cones. In the present work, we have examined the cellular and developmental pattern of Nr2e3 protein localization in mammals and fish, identified an optimal Nr2e3 DNA-binding site using cycles of binding to recombinant Nr2e3, characterized the transcriptional activity of wild type and one of the disease-associated point mutations in Nr2e3 in transfected cells, and characterized the transcriptional defects in the naturally occurring Nr2e3 mutant (rd7) mouse. These experiments indicate that in the mature vertebrate retina Nr2e3 is expressed exclusively in rods, that expression of Nr2e3 is one of the earliest events in the pathway of rod-specific photoreceptor development, and that Nr2e3 functions, either directly or indirectly, as a repressor of cone-specific genes in rod photoreceptor cells.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping