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A diagnosis of autosomal recessive retinitis pigmentosa (ARRP) with cystic maculopathy, caused by compound heterozygous mutation in the gene NR2E3, was made.
The patient presented characteristic symptoms, morphology and electrophysiological characteristics for S-cone deficiency syndrome and presented heterozygous for two mutations, one of which (c.790G>A; p.G264R in NR2E3), to our knowledge, has not been previously reported.
A substitution in exon 2 of NR2E3, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had normal karyotype
Photoreceptor-specific nuclear receptor (PNR/NR2E3) and Tailless homolog (TLX/NR2E1 (zeige NR2E1 Proteine)) are human orthologs of the NR2E group.
The frameshift mutation found in patient 1, p.I307LfsX33, is a new causative mutation for ESCS; it is located in exon 6. This mutation truncates the 410 amino acids in the normal NR2E3 protein into 306 amino acids and causes the synthesis of a protein lacking more than half of the ligand-binding domain.
Autosomal dominant retinitis pigmentosa due to p.Gly56Arg mutation in the NR2E3 gene
NR2E3 is a novel epigenetic regulator that helps to maintain a normal epigenetic status in response to benzo(a)pyrene mediated toxic injury. NR2E3 may be a potential target for cancer prevention.
Study presents evidence that PNR could promote ERalpha (zeige ESR1 Proteine)-negative breast cancer metastasis through activation of IL-13Ralpha2-mediated signaling pathway.
Direct sequencing of NR2E3 identified 3 previously described mutations and 4 novel mutations in Enhanced S-cone syndrome (ESCS) forms
Molecular genetic studies helped to identify a novel p.D406G mutation in NR2E3 of the Goldmann-Favre syndrome (GFS) and vasoproliferative tumors of the retina affected members.
Chemical compounds identified as modulators of Nr2e3 activity may be useful for the treatment of RP through their effects on expression of disease-causing mutant genes.
Modifier genes as therapeutics: the nuclear hormone receptor (zeige NR0B1 Proteine) Rev Erb alpha (Nr1d1 (zeige NR1D1 Proteine)) rescues Nr2e3 associated retinal disease.
PNR/NR2E3 and related NRs (zeige SPNS1 Proteine) such as TLX (zeige NR2E1 Proteine) and COUPTFs can selectively associate with the developmental corepressor BCL11A (zeige BCL11A Proteine) via a conserved motif F/YSXXLXXL/Y within the RID1 and RID2 domains.
These studies further support the 'transcriptional dominance' model of photoreceptor cell fate determination and provide insights into the pathogenesis of retinal disease phenotypes caused by NR2E3 mutations.
These studies reveal a novel role for Nr1d1 (zeige NR1D1 Proteine), in conjunction with its cofactor Nr2e3, in regulating transcriptional networks critical for photoreceptor development and function.
These experiments show that in mature vertebrate retina Nr2e3 is expressed exclusively in rods and that Nr2e3 functions as a repressor of cone-specific genes in rod photoreceptor cells.
Our studies reveal a critical role of NR2E3 in establishing functional specificity of NRL (zeige NRL Proteine)-expressing photoreceptor precursors during retinal neurogenesis.
NR2E3 acts simultaneously in different cell types: in late mitotic progenitors, newly differentiating post mitotic cells, and mature rods and cones.
The developmental expression profile of zebrafish nr2e1 (zeige NR2E1 Proteine) and nr2e3 is consistent with evolutionary conserved functions in eye and rostral brain structures.
This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified.
photoreceptor-specific nuclear receptor
, retina-specific nuclear receptor
, nuclear receptor subfamily 2, group E, member 3
, retinal degeneration 7
, nuclear receptor subfamily 2 group E member 3
, LOW QUALITY PROTEIN: photoreceptor-specific nuclear receptor