Nrl is required for rod photoreceptor development

Citation
Aj. Mears et al., Nrl is required for rod photoreceptor development, NAT GENET, 29(4), 2001, pp. 447-452
Citations number
31
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
1061-4036 → ACNP
Volume
29
Issue
4
Year of publication
2001
Pages
447 - 452
Database
ISI
SICI code
1061-4036(200112)29:4<447:NIRFRP>2.0.ZU;2-J
Abstract
The protein neural retina leucine zipper (Nrl) is a basic motif-leucine zip per transcription factor that is preferentially expressed in rod photorecep tors(1,2). it acts synergistically with Crx to regulate rhodopsin transcrip tion(3-5). Missense mutations in human NRL have been associated with autoso mal dominant retinitis pigmentosa(6,7). 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 h ave cone-like nuclear morphology(8) and short, sparse outer segments with a bnormal disks. Analysis of retinal gene expression confirms the apparent fu nctional 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 whi le simultaneously inhibiting the S-cone pathway through the activation of N r2e3.