Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

American Journal of Human Genetics

Volumn 81, Issue 1, 2007, Pages 147-157

  Coppieters, Frauke ^a   Leroy, Bart P ^a,b   Beysen, Diane ^a   Hellemans, Jan ^a   De Bosscher, Karolien ^b   Haegeman, Guy ^b   Robberecht, Kirsten ^b   Wuyts, Wim ^c   Coucke, Paul J ^a   De Baere, Elfride ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b GHENT UNIVERSITY   (Belgium)

^c Center for Medical Genetics   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA; CELL NUCLEUS RECEPTOR; ORPHAN NUCLEAR RECEPTOR NR2E3; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE ENHANCED S CONE SYNDROME; BELGIUM; FEMALE; GENE; GENE LOCATION; GENE LOCUS; GENE MUTATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NR2E3 GENE; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

EID: 34347263433     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/518426     Document Type: Article

References (50)

1. Berkeley Drosophila Genome Project (BDGP), http://www.fruitfly .org/seq_tools/splice.html Ensembl Genome Browser, http://www.ensembl.org/index. html
2. ESEfinder, http://rulai.cshl.edu/tools/ESE/
3. International HapMap Project, http://www.hapmap.org/
4. NCBI Map Viewer, http://www.ncbi.nlm.nih.gov/mapview/static/ MVstart.html
5. NetGene2, http://www.cbs.dtu.dk/services/NetGene2/
6. NetPhos 2.0 Server, http://www.cbs.dtu.dk/services/NetPhos/
7. NetPhosK 1.0 Server, http://www.cbs.dtu.dk/services/NetPhosK/
8. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi .nlm.nih.gov/Omim/ (for RP, BBS4, VDR, AR, HVDRR, AIS, and GR)
9. Polymorphism Phenotyping (PolyPhen), http://genetics.bwh .harvard.edu/pph/
10. Primer3, http://biotools.umassmed.edu/bioapps/primer3_www .cgi
11. RESCUE-ESE, http://genes.mit.edu/burgelab/rescue-ese/
12. RetNet, http://www.sph.uth.tmc.edu/Retnet/
13. Sorting Intolerant From Tolerant (SIFT), http://blocks.fhcrc.org/ sift/SIFT.html
14. SpliceSiteFinder, http://www.genet.sickkids.on.ca/~ali/ splicesitefinder.html
15. UCSC Genome Browser, http://genome.ucsc.edu/
16. Bird AC (1995) Retinal photoreceptor dystrophies LI. Am J Ophthalmol 119:543-562
17. Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, et al (2006) Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci 47:3052-3064
18. Lindner TH, Hoffmann K (2005) easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses. Bioinformatics 21:405-407
19. Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, et al (2001) Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet 28:188-191
20. Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, et al (2000) Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 24:127-131
21. Cheng H, Khanna H, Oh EC, Hicks D, Mitton KP, Swaroop A (2004) Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Hum Mol Genet 13:1563-1575
22. Peng GH, Ahmad O, Ahmad F, Liu J, Chen S (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 14:747-764
23. Nuclear Receptors Nomenclature Committee (1999) A unified nomenclature system for the nuclear receptor superfamily. Cell 97:161-163
24. Miano MG, Jacobson SG, Carothers A, Hanson I, Teague P, Lovell J, Cideciyan AV, Haider N, Stone EM, Sheffield VC, et al (2000) Pitfalls in homozygosity mapping. Am J Hum Genet 67:1348-1351
25. Hsieh JC, Jurutka PW, Nakajima S, Galligan MA, Haussler CA, Shimizu Y, Shimizu N, Whitfield GK, Haussler MR (1993) Phosphorylation of the human vitamin D receptor by protein kinase C: biochemical and functional evaluation of the serine 51 recognition site. J Biol Chem 268:15118-15126
26. Hsieh JC, Shimizu Y, Minoshima S, Shimizu N, Haussler CA, Jurutka PW, Haussler MR (1998) Novel nuclear localization signal between the two DNA-binding zinc fingers in the human vitamin D receptor. J Cell Biochem 70:94-109
27. Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP (2003) Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol 121:1316-1323
28. Jacobson SG, Marmor MF, Kemp CM, Knighton RW (1990) SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci 31:827-838
29. Marmor MF, Jacobson SG, Foerster MH, Kellner U, Weleber RG (1990) Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol 110:124-134
30. Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP (2006) Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Hum Mutat 27: 644-653
31. Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC (2003) Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. Arch Ophthalmol 121:793-802
32. Cheng H, Aleman TS, Cideciyan AV, Khanna R, Jacobson SG, Swaroop A (2006) In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Hum Mol Genet 15:2588-2602
33. Srinivas M, Ng L, Liu H, Jia L, Forrest D (2006) Activation of the blue opsin gene in cone photoreceptor development by retinoid-related orphan receptor beta. Mol Endocrinol 20: 1728-1741
34. Oh EC, Khan N, Novelli E, Khanna H, Strettoi E, Swaroop A (2007) Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL. Proc Natl Acad Sci USA 104:1679-1684
35. Yanagi Y, Takezawa S, Kato S (2002) Distinct functions of photoreceptor cell-specific nuclear receptor, thyroid hormone receptor β2 and CRX in one photoreceptor development. Invest Ophthalmol Vis Sci 43:3489-3494
36. Roberts MR, Hendrickson A, McGuire CR, Reh TA (2005) Retinoid X receptor (gamma) is necessary to establish the S-opsin gradient in cone photoreceptors of the developing mouse retina. Invest Ophthalmol Vis Sci 46:2897-2904
37. Chen J, Rattner A, Nathans J (2005) The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. J Neurosci 25:118-129
38. Takezawa S, Yokoyama A, Okada M, Fujiki R, Iriyama A, Yanagi Y, Ito H, Takada I, Kishimoto M, Miyajima A, et al (2007) A cell cycle-dependent co-repressor mediates photoreceptor cell-specific nuclear receptor function. EMBO J 26:764-774
39. Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP (2004) Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci U S A 101:17819-17824
40. Renaud JP, Moras D (2000) Structural studies on nuclear receptors. Cell Mol Life Sci 57:1748-1769
41. Hughes MR, Malloy PJ, Kieback DG, Kesterson RA, Pike JW, Feldman D, O'Malley BW (1988) Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 242:1702-1705
42. Malloy PJ, Hochberg Z, Pike JW, Feldman D (1989) Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II. J Clin Endocrinol Metab 68:263-269
43. Lobaccaro JM, Belon C, Lumbroso S, Olewniczack G, Carre-Pigeon F, Job JC, Chaussain JL, Toublanc JE, Sultan C (1994) Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene. Clin Endocrinol (Oxford) 40:297-302
44. Allera A, Herbst MA, Griffin JE, Wilson JD, Schweikert HU, McPhaul MJ (1995) Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias. J Clin Endocrinol Metab 80:2697-2699
45. Sone T, Scott RA, Hughes MR, Malloy PJ, Feldman D, O'Malley BW, Pike JW (1989) Mutant vitamin D receptors which confer hereditary resistance to 1,25-dihydroxyvitamin D3 in humans are transcriptionally inactive in vitro. J Biol Chem 264: 20230-20234
46. Aarnisalo P, Santti H, Poukka H, Palvimo JJ, Janne OA (1999) Transcription activating and repressing functions of the androgen receptor are differentially influenced by mutations in the deoxyribonucleic acid-binding domain. Endocrinology 140:3097-3105
47. Poukka H, Aarnisalo P, Santti H, Janne OA, Palvimo JJ (2000) Coregulator small nuclear RING finger protein (SNURF) enhances Sp1- and steroid receptor-mediated transcription by different mechanisms. J Biol Chem 275:571-579
48. Lobaccaro JM, Poujol N, Terouanne B, Georget V, Fabre S, Lumbroso S, Sultan C (1999) Transcriptional interferences between normal or mutant androgen receptors and the activator protein 1 - dissection of the androgen receptor functional domains. Endocrinology 140:350-357
49. Necela BM, Cidlowski JA (2004) A single amino acid change in the first zinc finger of the DNA binding domain of the glucocorticoid receptor regulates differential promoter selectivity. J Biol Chem 279:39279-39288
50. Haider NB, Demarco P, Nystuen AM, Huang X, Smith RS, McCall MA, Naggert JK, Nishina PM (2006) The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation. Vis Neurosci 23:917-929