PUBLICATION
A novel, evolutionary conserved enhancer of cone photoreceptor-specific expression
- Authors
- Smyth, V.A., Di Lorenzo, D., and Kennedy, B.N.
- ID
- ZDB-PUB-080228-8
- Date
- 2008
- Source
- The Journal of biological chemistry 283(16): 10881-10891 (Journal)
- Registered Authors
- Kennedy, Breandan N., Smyth, Vincent
- Keywords
- none
- MeSH Terms
-
- Animals
- Animals, Genetically Modified
- Base Sequence
- Computational Biology
- Enhancer Elements, Genetic
- Evolution, Molecular
- Green Fluorescent Proteins/metabolism
- Molecular Sequence Data
- Mutation*
- Promoter Regions, Genetic
- Retinal Cone Photoreceptor Cells/metabolism*
- Sequence Homology, Nucleic Acid
- Transducin/metabolism
- Transducin/physiology*
- Zebrafish
- PubMed
- 18272521 Full text @ J. Biol. Chem.
Citation
Smyth, V.A., Di Lorenzo, D., and Kennedy, B.N. (2008) A novel, evolutionary conserved enhancer of cone photoreceptor-specific expression. The Journal of biological chemistry. 283(16):10881-10891.
Abstract
The alpha subunit of cone transducin (TalphaC) is expressed exclusively in cone photoreceptors of the eye and pineal. TalphaC is a key phototransduction protein and inherited mutations in TalphaC cause total colour blindness in humans. We use transgenic zebrafish to identify and characterise cone photoreceptor regulatory element 1 (CPRE-1) a novel 20 bp enhancer element in the TalphaC promoter (TalphaCP). CPRE-1 is located ~2.5 kb upstream of the translation start site and is necessary for strong cone photoreceptor-specific expression in vivo. CPRE-1 comprises of a modular arrangement of two 10 bp elements that have separate, but co-dependent transcriptional activities. In vitro, CPRE-1 specifically binds nuclear factors that are enriched in ocular tissue. Bioinformatic alignments reveal that CPRE-1 sites are evolutionarily conserved in the promoter regions of fish, rodent and mammalian TaC orthologues and identify a 5'-CTGGAGTGA/TTGGAA/GGCAGGGG/CT-3' consensus sequence.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping