Photoreceptor cell-specific nuclear receptor

From Wikipedia, the free encyclopedia


Nuclear receptor subfamily 2, group E, member 3
Identifiers
Symbol(s) NR2E3; PNR; ESCS; MGC49976; RNR; rd7
External IDs OMIM: 604485 MGI: 1346317 HomoloGene: 84397
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 10002 23958
Ensembl ENSG00000031544 ENSMUSG00000032292
Uniprot Q9Y5X4 Q543C7
Refseq NM_014249 (mRNA)
NP_055064 (protein)		 NM_013708 (mRNA)
NP_038736 (protein)
Location Chr 15: 69.89 - 69.9 Mb Chr 9: 59.74 - 59.75 Mb
Pubmed search [1] [2]

The photoreceptor cell-specific nuclear receptor (PNR), also known as NR2E3 (nuclear receptor subfamily 2, group E, member 3), is a member of the nuclear receptor super family of intracellular transcription factors.[1]

PNR is exclusively expressed in the retina. The main target genes of PNR are rhodopsin and several opsins which are essential for sight.[2] Mutations in the PNR gene NR2E3 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]

[edit] References

  1. ^ Kobayashi M, Takezawa S, Hara K, Yu RT, Umesono Y, Agata K, Taniwaki M, Yasuda K, Umesono K (1999). "Identification of a photoreceptor cell-specific nuclear receptor". Proc. Natl. Acad. Sci. U.S.A. 96 (9): 4814–9. doi:10.1073/pnas.96.9.4814. PMID 10220376. 
  2. ^ Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG (2002). "The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration". Proc. Natl. Acad. Sci. U.S.A. 99 (1): 473–8. doi:10.1073/pnas.022533099. PMID 11773633. 
  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 (2000). "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate". Nat. Genet. 24 (2): 127–31. doi:10.1038/72777. PMID 10655056. 
  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 (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". Hum. Genet. 107 (3): 276–84. doi:10.1007/s004390000350. PMID 11071390. 
  5. ^ Chavala SH, Sari A, Lewis H, Pauer GJ, Simpson E, Hagstrom SA, Traboulsi EI (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. PMID 16024868. 

[edit] Further reading

  • Kobayashi M, Takezawa S, Hara K, et al. (1999). "Identification of a photoreceptor cell-specific nuclear receptor.". Proc. Natl. Acad. Sci. U.S.A. 96 (9): 4814–9. PMID 10220376. 
  • Chen F, Figueroa DJ, Marmorstein AD, et al. (2000). "Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells.". Proc. Natl. Acad. Sci. U.S.A. 96 (26): 15149–54. PMID 10611353. 
  • Haider NB, Jacobson SG, Cideciyan AV, et al. (2000). "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.". Nat. Genet. 24 (2): 127–31. doi:10.1038/72777. PMID 10655056. 
  • Rendtorff ND, Vissing H, Tümer Z, et al. (2000). "Assignment of the NR2E3 gene to mouse chromosome 9 and to human chromosome 15q22.33-->q23.". Cytogenet. Cell Genet. 89 (3-4): 279–80. PMID 10965145. 
  • Gerber S, Rozet JM, Takezawa SI, et al. (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.". Hum. Genet. 107 (3): 276–84. PMID 11071390. 
  • Haider NB, Naggert JK, Nishina PM (2001). "Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.". Hum. Mol. Genet. 10 (16): 1619–26. PMID 11487564. 
  • Milam AH, Rose L, Cideciyan AV, et al. (2002). "The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.". Proc. Natl. Acad. Sci. U.S.A. 99 (1): 473–8. doi:10.1073/pnas.022533099. PMID 11773633. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Sharon D, Sandberg MA, Caruso RC, et al. (2003). "Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.". Arch. Ophthalmol. 121 (9): 1316–23. doi:10.1001/archopht.121.9.1316. PMID 12963616. 
  • Cheng H, Khanna H, Oh EC, et al. (2005). "Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors.". Hum. Mol. Genet. 13 (15): 1563–75. doi:10.1093/hmg/ddh173. PMID 15190009. 
  • Bumsted O'Brien KM, Cheng H, Jiang Y, et al. (2004). "Expression of photoreceptor-specific nuclear receptor NR2E3 in rod photoreceptors of fetal human retina.". Invest. Ophthalmol. Vis. Sci. 45 (8): 2807–12. doi:10.1167/iovs.03-1317. PMID 15277507. 
  • Wright AF, Reddick AC, Schwartz SB, et al. (2005). "Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.". Hum. Mutat. 24 (5): 439. doi:10.1002/humu.9285. PMID 15459973. 
  • Chen J, Rattner A, Nathans J (2005). "The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes.". J. Neurosci. 25 (1): 118–29. doi:10.1523/JNEUROSCI.3571-04.2005. PMID 15634773. 
  • Peng GH, Ahmad O, Ahmad F, et al. (2005). "The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.". Hum. Mol. Genet. 14 (6): 747–64. doi:10.1093/hmg/ddi070. PMID 15689355. 
  • Hayashi T, Gekka T, Goto-Omoto S, et al. (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. 
  • Olsen JV, Blagoev B, Gnad F, et al. (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. 
  • Coppieters F, Leroy BP, Beysen D, et al. (2007). "Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.". Am. J. Hum. Genet. 81 (1): 147–57. doi:10.1086/518426. PMID 17564971. 

[edit] External links

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v • d • e
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger
DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)
(2.2) Other Cys4
GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2
(3.6) TEA domain
transcriptional enhancer factor 1, 2
(4) β-Scaffold factors with
minor groove contacts
(4.1) Rel homology region
NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)
(4.2) STAT
STAT (1, 2, 3, 4, 5, 6)
(4.3) p53
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
Rb • RBL1 • RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2 • EREBP • B3
(0.6) Miscellaneous
ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD