the function of NRL is modulated by its interaction with specific repressor proteins, related to cross-talk between signaling pathways in the retina.
REEP6.1 is a key functional target of NRL-centered transcriptional regulatory network in rod photoreceptors.
that two photoreceptor-specific transcription factors, NRL and CRX, are master regulators of this program and are required for tumor maintenance in this subgroup
We identified a novel NRL mutation (c.147_149del, p.Ser50del) leading to adRP in a Chinese family with retinitis pigmenntosa.
investigated the prevalence of the NRL mutation among Bukhara Jews with oculopharyngeal muscular dystrophy (OPMD)
This report expands the spectrum of NRL recessive mutations, as well as the genetic spectrum of ESCS, and indicates a new syndrome of OPMD with an ESCS-like phenotype.
The c.146 C>T mutation in NRL gene causes autosomal dominant retinitis pigmentosa for this family.
In another family a variant, p.M96T in the NRL gene was detected as a retinitis pigmentosa-causing mutation.
This novel p.M96T mutant activated the RHO promoter more intensely than did wild-type NRL in a family with autosomal dominant retinitis pigmentosa.
Studies suggest an important role of sumoylation in fine-tuning the activity of NRL and thereby incorporating yet another layer of control in gene regulatory networks involved in photoreceptor development and homeostasis.
In this study, NR2E3 mutations were found to be responsible for approximately 2.9% of overall retinitis pigmentosa (RP) in Chinese patients, NRL was not associated with RP.
The disease caused by NRL mutations found in this study appears to be more severe
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
the function of NRL is modulated by its interaction with specific repressor proteins, related to cross-talk between signaling pathways in the retina
The NRL Ser50Thr mutation is associated with selective loss of scotopic function before age 20 years. With time, however, the photopic system becomes affected, leading to loss of the photopic visual field and of visual acuity.
both Nrl and Crx are required for full transcriptional activity of the PDE6A gene
the function of NRL-MTD is to activate transcription by recruiting or stabilizing TBP (and consequently other components of the general transcription complex) at the promoter of target genes
Mutation analysis of the NRL gene, in patients with Enhanced S Cone Syndrome
an unusual clinical phenotype in humans with loss-of-function mutations in NRL
signaling by RA via RA receptors regulates the expression of NRL, providing a framework for delineating early steps in photoreceptor cell fate determination
Gain-of-function mutations in the NRL gene cause autosomal dominant retinitis pigmentosa[RP] while loss-of-function mutations cause autosomal recessive RP. Differential phosphorylation of NRL fine-tunes its transcriptional regulatory activity.
six isoforms of NRL (29-35 kDa) are generated by phosphorylation and expressed specifically in the mammalian retina.
that two photoreceptor-specific transcription factors, NRL and CRX, are master regulators of this program and are required for tumor maintenance in this subgroup
Following Nrl disruption, rods gain partial features of cones and present with improved survival in the presence of mutations in rod-specific genes, consequently preventing secondary cone degeneration. In three different mouse models of retinal degeneration, the treatment substantially improves rod survival and preserves cone function.
Nrl is posttranscriptionally regulated to facilitate the generation of other cell types in retina
De novo assembly and alternative splicing analyses revealed previously unannotated rod-enriched transcripts and the role of NRL in transcript maturation.
Our studies reveal coregulation of coding and noncoding transcripts in rod photoreceptors by NRL and establish the framework for deciphering the function of ncRNAs during retinal development.
To explore dendritic stratification of OFF bipolar cells in the absence of rods, we made use of the 'cone-full' Nrl-/- mouse retina in which all photoreceptor precursor cells commit to a cone fate including those which would have become rods in wild-type retinas
CNGA3 expression restored cone function in in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia.
REEP6.1 is a key functional target of NRL-centered transcriptional regulatory network in rod photoreceptors.
Data indicate that positive feedback between neural retina leucine zipper factor (NRL) and retinoid-related orphan receptor beta gene (Rorb) genes reinforces the commitment to a rod differentiation fate.
shRNA-mediated knockdown of Crx and Nrl resulted in reduced Kcnv2 promoter activity and low endogenous Kcnv2 mRNA expression in the retina.
This study analyzed the retinal pigment epithelium from Nrl(-/-) mice of various ages for lipofuscin fluorescence and A2E levels.
Findings suggest that elimination of Nrl in adult rods may represent a unique therapy for retinal degeneration.
Our results show that NRL and CRX together control the expression of most, if not all, genes involved in rod phototransduction through a cis-regulatory module
found that Nrl activated rhodopsin and Ppp2r5c transcription by recruiting Tip60 to promote histone H3/H4 acetylation
Nrl as a direct transcriptional target of RORbeta and suggest that combinatorial action of multiple regulatory factors modulates the expression of Nrl in developing and mature retina.
Nrl-deficient retina 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.
a model in which Nrl expression is primarily initiated by OTX2 and RORbeta and later maintained at high levels by CRX and RORbeta.
Cone-like outer segment phagocytosis in Nrl(-/-) mice shows a similar profile to that of rods in normal mice and other species.
results suggest that Ppp2r5c expression is regulated by Nrl during retinogenesis through direct binding to the promoter region of Ppp2r5c
Studies suggest an important role of sumoylation in fine-tuning the activity of NRL and thereby incorporating yet another layer of control in gene regulatory networks involved in photoreceptor development and homeostasis.
This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases.
neural retina leucine zipper , bZIP transcription factor L-Maf , leucine zipper transcription factor , neural retina-specific leucine zipper protein , neural retinal-specific leucine zipper
GENE ID | SPEZIES |
---|---|
373814 | Xenopus laevis |
452806 | Pan troglodytes |
490620 | Canis lupus familiaris |
521544 | Bos taurus |
554169 | Danio rerio |
613052 | Xenopus (Silurana) tropicalis |
714967 | Macaca mulatta |
100127447 | Sus scrofa |
100192392 | Cavia porcellus |
100342474 | Oryctolagus cuniculus |
4901 | Homo sapiens |
290221 | Rattus norvegicus |
18185 | Mus musculus |