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Whole-exome sequencing identified a novel missense NR2F1 variant in each case, Cys86Phe in the DNA-binding domain in Case 1, and a Leu372Pro in the ligand-binding domain in Case 2. Using molecular modeling we are also able to demonstrate the putative effect of the two missenses on protein function, generating a hitherto undescribed molecular model for the ligand-binding domain of NR2F1 in the process.
fifth of COUP-TFI cells also co-expressed COUP-TFII (show NR2F2 Proteins), and cells expressing either transcription factor followed posterior or anterio-lateral pathways into the cortex
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)encompasses a broad range of clinical phenotypes. Functional studies help determine the severity of novel NR2F1 variants. Some genotype-phenotype correlations seem to exist, with missense mutations in the DNA-binding domain causing the most severe phenotypes
COUP-TFII (show NR2F2 Proteins) is expressed in a diverse subset of GABAergic interneurons predominantly innervating small dendritic shafts originating from both interneurons and pyramidal cells.
our mechanistic in vitro assays and in vivo results suggest that a reduction in chemokine (show CCL1 Proteins) CXCL12 (show CXCL12 Proteins) expression, with an enhancement of CXCR4 (show CXCR4 Proteins) expression, provoked by COUP-TFI, could be associated with an increase in the invasive potential of breast cancer
NR2F1 has an important role in the development of the visual system and that haploinsuffiency can lead to optic atrophy with intellectual impairment.
COUP-TFI and related NRs such as the COUPTFs and PNR can selectively associ (show NR2F2 Proteins)ate wi (show NR2F6 Proteins)th the d (show CD46 Proteins)evelopmental corepressor BCL11A via a conserved motif F/YSXXLXXL/Y (show SPNS1 Proteins)within the RID1 and RID2 domains. The interaction with BCL11A facilitates COUP-TFII-mediated repression of the RARb2 gene.
a novel mechanism of MTP (show MT1B Proteins) repression that involves binding of NR2F1 to the DR1 (show DR1 Proteins) element and recruitment of corepressors
study identifies two unique corticotroph tumor populations which differ in their expression of COUP-TFI, the presence of which occurs more frequently in macroadenomas.
provide detailed experimental validation of each step and, as a proof of principle, utilize the methodology to identify novel direct targets of the orphan nuclear receptor NR2F1 (COUP-TFI)
results suggest that COUP-TF exerts a tonic inhibition on steroidogenesis by repressing StAR protein expression and that activators of aldosterone biosynthesis lift this inhibition in part by repressing COUP-TF levels.
COUP-TFI expression is required for functional organization of the hippocampal septo-temporal longitudinal axis
These data identify silencer elements of the Nr2f1-A830082K12Rik gene pair as new candidate loci for Waardenburg syndrome type 4.
Coup-TF1 and Coup-TF2 (show NR2F2 Proteins) control subtype and laminar identity of MGE-derived neocortical interneurons
COUP-TFI is required predominantly in Dentate gyrus progenitors for modulating expression of the Cxcr4 (show CXCR4 Proteins) receptor during granule cell neurogenesis and migration.
Transcription factors COUP-TFI and COUP-TFII (show NR2F2 Proteins) are required for the production of granule cells in the mouse olfactory bulb.
Findings provide evidence that Sp8 (show SP8 Proteins) and another transcription factor, COUP-TF1, mutually repress each other's cortical neuroepithelial expression along the anterior-posterior and dorsoventral axes
a novel tissue-dependent coregulatory network for NR2F1, miR (show MLXIP Proteins)-140, and Klf9 (show KLF9 Proteins) in the inner ear
odour deprivation, which is known to downregulate tyrosine hydroxylase (show TH Proteins) expression in the olfactory bulb, also downregulates COUP-TFI in dopaminergic cells, indicating a correlation between tyrosine hydroxylase (show TH Proteins)- and COUP-TFI-activity-dependent action.
CoupTFI collaborates with retinoic acid signaling to regulate both cortical ventricular zone progenitor cell behavior and cortical neurogenesis
Interaction of NSD1 with the NR2E/F subfamily including COUP-TFI, COUP-TFII (show NR2F2 Proteins), EAR2 (show NR2F6 Proteins) and TLX (show NR2E1 Proteins) requires a F/YSXXLXXL/Y motif. NSD1 interaction with liganded NRs (show SPNS1 Proteins) is mediated by an overlapping LXXLL motif.
Nr2f1a concomitantly coordinates atrial and atrial-atrioventricular canal size through both Bmp-dependent and independent mechanisms.
nr2f1a plays a critical role for vascular development in zebrafish.
Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5'-AGGTCA-3' motif. Represses transcriptional activity of LHCG.
nuclear receptor subfamily 2, group F, member 1
, COUP transcription factor 1
, COUP transcription factor I
, COUP-TF I
, V-erbA-related protein 3
, chicken ovalbumin upstream promoter-transcription factor I
, transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3)
, chicken ovalbumin upstream promoter-transcription factor
, nuclear receptor subfamily 2 group F member 1
, avian erythroblastic leukemia viral (v-erb-a) oncogene homolog-like 3
, COUP transcription factor 1-A
, nuclear receptor subfamily 2 group F member 1-A
, seven-up related 44
, steroid receptor homolog SVP 44