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Nr2e3  -  nuclear receptor subfamily 2, group E,...

Mus musculus

Synonyms: A930035N01Rik, Nuclear receptor subfamily 2 group E member 3, PNR, Photoreceptor-specific nuclear receptor, Pnr, ...
 
 
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Disease relevance of Nr2e3

  • This data coincides with studies in humans showing that mutations in Nr2e3 result in a unique type of retinal degeneration known as enhanced S-cone syndrome, where patients have a 30-fold increase in S-cone sensitivity compared to normal [1].
  • Thus, Nr2e3 may function by regulating genes involved in cone cell proliferation, and mutations in this gene lead to retinal dysplasia and degeneration by disrupting normal photoreceptor cell topography as well as cell-cell interactions [1].
  • The retinal degeneration 7 (rd7) mouse is a naturally occurring model of enhanced S-cone syndrome, Goldman-Favre syndrome and clumped pigmentary retinopathy in humans, allelic disorders caused by inactivation of a photoreceptor-specific nuclear hormone receptor, NR2E3 [2].
  • In this study, we use Nr2e3rd7/rd7 mice that harbor a mutation in Nr2e3, to serve as a model for the human retinal disease Enhanced S Cone Syndrome [3].
 

High impact information on Nr2e3

  • 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 [4].
  • A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse [5].
  • L1 insertion blocks splicing of Nr2e3 intron 5 by separating an inefficient splice donor from essential splicing enhancers within exon 5, with the result that incompletely spliced transcripts accumulate to high levels at the mutant Nr2e3 locus in photoreceptor nuclei [2].
  • We show here that the rd7 mutation arose from the antisense insertion of a long interspersed nuclear element (LINE-1) (or L1) into exon 5 of the mouse Nr2e3 gene [2].
  • Several mutant forms of human Nr2e3 identified from ESCS patients showed defects in interacting with Crx and/or in transcriptional regulatory function [6].
 

Biological context of Nr2e3

 

Anatomical context of Nr2e3

  • Nr2e3 is an orphan nuclear receptor expressed specifically by retinal photoreceptor cells [6].
  • Altogether, our findings suggest that Nr2e3 is a dual-function transcriptional regulator that acts in concert with Crx to promote and maintain the function of rod photoreceptors [6].
  • Among differentially expressed transcripts, a few are virtually restricted to the digestive tract, including Nr2e3, previously regarded as a photoreceptor-specific product [9].
  • The transcription factor Nr2e3 is an essential component for development and specification of rod and cone photoreceptors; however, the mechanism through which it acts is not well understood [3].
  • PURPOSE: To clarify the functions of a specific subtype of thyroid hormone receptor (TR), TRbeta2, and photoreceptor cell-specific nuclear receptor (PNR) in the development of cone photoreceptors [8].
 

Associations of Nr2e3 with chemical compounds

  • In addition, in situ hybridization screening of genes shown to be up-regulated in the rd7 mutant retina by microarray identified ten new cone-specific or cone-enriched genes with a wide range of biochemical functions, including two genes specifically involved in glucose/glycogen metabolism [10].
  • Plasma concentrations of thyroid hormone and levels of TRbeta2 expression in the rd7/rd7 mouse retina over the developmental period were normal [8].
 

Other interactions of Nr2e3

  • The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes [11].
  • These results suggested that even though the number of cones expressing S-opsin is increased, the physiological function of the S-cone system is not enhanced in rd7 mice [7].
 

Analytical, diagnostic and therapeutic context of Nr2e3

References

  1. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Haider, N.B., Naggert, J.K., Nishina, P.M. Hum. Mol. Genet. (2001) [Pubmed]
  2. Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements. Chen, J., Rattner, A., Nathans, J. Hum. Mol. Genet. (2006) [Pubmed]
  3. The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation. Haider, N.B., Demarco, P., Nystuen, A.M., Huang, X., Smith, R.S., McCall, M.A., Naggert, J.K., Nishina, P.M. Vis. Neurosci. (2006) [Pubmed]
  4. Nrl is required for rod photoreceptor development. Mears, A.J., Kondo, M., Swain, P.K., Takada, Y., Bush, R.A., Saunders, T.L., Sieving, P.A., Swaroop, A. Nat. Genet. (2001) [Pubmed]
  5. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Akhmedov, N.B., Piriev, N.I., Chang, B., Rapoport, A.L., Hawes, N.L., Nishina, P.M., Nusinowitz, S., Heckenlively, J.R., Roderick, T.H., Kozak, C.A., Danciger, M., Davisson, M.T., Farber, D.B. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  6. The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. Peng, G.H., Ahmad, O., Ahmad, F., Liu, J., Chen, S. Hum. Mol. Genet. (2005) [Pubmed]
  7. Physiological function of S-cone system is not enhanced in rd7 mice. Ueno, S., Kondo, M., Miyata, K., Hirai, T., Miyata, T., Usukura, J., Nishizawa, Y., Miyake, Y. Exp. Eye Res. (2005) [Pubmed]
  8. Distinct functions of photoreceptor cell-specific nuclear receptor, thyroid hormone receptor beta2 and CRX in one photoreceptor development. Yanagi, Y., Takezawa, S., Kato, S. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
  9. A dynamic expression survey identifies transcription factors relevant in mouse digestive tract development. Choi, M.Y., Romer, A.I., Hu, M., Lepourcelet, M., Mechoor, A., Yesilaltay, A., Krieger, M., Gray, P.A., Shivdasani, R.A. Development (2006) [Pubmed]
  10. A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. Corbo, J.C., Cepko, C.L. PLoS Genet. (2005) [Pubmed]
  11. The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. Chen, J., Rattner, A., Nathans, J. J. Neurosci. (2005) [Pubmed]
  12. Possible contribution of impaired sodium excretion to the development and maintenance of hypertension: a study of the isolated kidneys of the Prague hypertensive rat. Vanĕcková, I., Heller, J., Thurau, K. Pflugers Arch. (1997) [Pubmed]
 
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