Photoreceptor cell-specific nuclear receptor

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Orthologs
SpeciesHumanMouse
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The photoreceptor cell-specific nuclear receptor (PNR), also known as NR2E3 (nuclear receptor subfamily 2, group E, member 3), is a protein that in humans is encoded by the NR2E3 gene.[1] PNR is a member of the nuclear receptor super family of intracellular transcription factors.

Function

PNR is exclusively expressed in the retina. The main target genes of PNR are rhodopsin and several opsins which are essential for sight.[2]

Clinical significance

Mutations in the NR2E3 gene have been linked to several inherited retinal diseases, including enhanced S-cone syndrome (ESCS),[3] a form of retinitis pigmentosa,[4] and Goldmann-Favre syndrome.[5]

References

  1. Kobayashi M, Takezawa S, Hara K, Yu RT, Umesono Y, Agata K, Taniwaki M, Yasuda K, Umesono K (Apr 1999). "Identification of a photoreceptor cell-specific nuclear receptor". Proceedings of the National Academy of Sciences of the United States of America. 96 (9): 4814–9. doi:10.1073/pnas.96.9.4814. PMC 21774. PMID 10220376.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  2. Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG (Jan 2002). "The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration". Proceedings of the National Academy of Sciences of the United States of America. 99 (1): 473–8. doi:10.1073/pnas.022533099. PMC 117584. PMID 11773633.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  3. Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC (Feb 2000). "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate". Nature Genetics. 24 (2): 127–31. doi:10.1038/72777. PMID 10655056.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  4. Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, Penet C, Perrault I, Ducroq D, Souied E, Jeanpierre M, Romana S, Frézal J, Ferraz F, Yu-Umesono R, Munnich A, Kaplan J (Sep 2000). "The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition". Human Genetics. 107 (3): 276–84. doi:10.1007/s004390000350. PMID 11071390.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  5. Chavala SH, Sari A, Lewis H, Pauer GJ, Simpson E, Hagstrom SA, Traboulsi EI (Aug 2005). "An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome". The British Journal of Ophthalmology. 89 (8): 1065–6. doi:10.1136/bjo.2005.068130. PMC 1772771. PMID 16024868.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>

Further reading

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  • Chen F, Figueroa DJ, Marmorstein AD, Zhang Q, Petrukhin K, Caskey CT, Austin CP (Dec 1999). "Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells". Proceedings of the National Academy of Sciences of the United States of America. 96 (26): 15149–54. doi:10.1073/pnas.96.26.15149. PMC 24788. PMID 10611353.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC (Feb 2000). "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate". Nature Genetics. 24 (2): 127–31. doi:10.1038/72777. PMID 10655056.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Rendtorff ND, Vissing H, Tümer Z, Silahtaroglu A, Tommerup N (2000). "Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33-->q23". Cytogenetics and Cell Genetics. 89 (3–4): 279–80. doi:10.1159/000015635. PMID 10965145.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Gerber S, Rozet JM, Takezawa SI, dos Santos LC, Lopes L, Gribouval O, Penet C, Perrault I, Ducroq D, Souied E, Jeanpierre M, Romana S, Frézal J, Ferraz F, Yu-Umesono R, Munnich A, Kaplan J (Sep 2000). "The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition". Human Genetics. 107 (3): 276–84. doi:10.1007/s004390000350. PMID 11071390.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Haider NB, Naggert JK, Nishina PM (Aug 2001). "Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice". Human Molecular Genetics. 10 (16): 1619–26. doi:10.1093/hmg/10.16.1619. PMID 11487564.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG (Jan 2002). "The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration". Proceedings of the National Academy of Sciences of the United States of America. 99 (1): 473–8. doi:10.1073/pnas.022533099. PMC 117584. PMID 11773633.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP (Sep 2003). "Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration". Archives of Ophthalmology. 121 (9): 1316–23. doi:10.1001/archopht.121.9.1316. PMID 12963616.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Cheng H, Khanna H, Oh EC, Hicks D, Mitton KP, Swaroop A (Aug 2004). "Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors". Human Molecular Genetics. 13 (15): 1563–75. doi:10.1093/hmg/ddh173. PMID 15190009.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Bumsted O'Brien KM, Cheng H, Jiang Y, Schulte D, Swaroop A, Hendrickson AE (Aug 2004). "Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina". Investigative Ophthalmology & Visual Science. 45 (8): 2807–12. doi:10.1167/iovs.03-1317. PMID 15277507.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A (Nov 2004). "Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome". Human Mutation. 24 (5): 439. doi:10.1002/humu.9285. PMID 15459973.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Chen J, Rattner A, Nathans J (Jan 2005). "The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes". The Journal of Neuroscience. 25 (1): 118–29. doi:10.1523/JNEUROSCI.3571-04.2005. PMID 15634773.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Peng GH, Ahmad O, Ahmad F, Liu J, Chen S (Mar 2005). "The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes". Human Molecular Genetics. 14 (6): 747–64. doi:10.1093/hmg/ddi070. PMID 15689355.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K (Dec 2005). "Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity". Ophthalmology. 112 (12): 2115. doi:10.1016/j.ophtha.2005.07.002. PMID 16225923.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  • Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E (Jul 2007). "Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa". American Journal of Human Genetics. 81 (1): 147–57. doi:10.1086/518426. PMC 1950922. PMID 17564971.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>

External links