Nrl is required for rod photoreceptor development
| Autor: | Thomas L. Saunders, Yuichiro Takada, Prabodha K. Swain, Mineo Kondo, Ronald A. Bush, Paul A. Sieving, Anand Swaroop, Alan J. Mears |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Leucine zipper
genetic structures Biology DNA-binding protein Mice chemistry.chemical_compound Retinal Rod Photoreceptor Cells Genetics medicine Animals Eye Proteins Peripherin 2 Transcription factor DNA Primers Leucine Zippers Retina Base Sequence Reverse Transcriptase Polymerase Chain Reaction Retinal Immunohistochemistry eye diseases Cell biology DNA-Binding Proteins Basic-Leucine Zipper Transcription Factors medicine.anatomical_structure chemistry Rhodopsin biology.protein sense organs Transcription Factors |
| Zdroj: | Nature Genetics. 29:447-452 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng774 |
| Popis: | The protein neural retina leucine zipper (Nrl) is a basic motif-leucine zipper transcription factor that is preferentially expressed in rod photoreceptors. It acts synergistically with Crx to regulate rhodopsin transcription. Missense mutations in human NRL have been associated with autosomal dominant retinitis pigmentosa. Here we report that deletion of Nrl in mice results in the complete loss of rod function and super-normal cone function, mediated by S cones. The photoreceptors in the Nrl-/- retina have cone-like nuclear morphology and short, sparse outer segments with abnormal disks. Analysis of retinal gene expression confirms the apparent functional transformation of rods into S cones in the Nrl-/- retina. On the basis of these findings, we postulate that Nrl acts as a 'molecular switch' during rod-cell development by directly modulating rod-specific genes while simultaneously inhibiting the S-cone pathway through the activation of Nr2e3. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|