Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the chinese population

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 4, 2010, Pages 2229-2235

  Yang, Yaping ^a,b   Zhang, Xin ^a   Chen, Li Jia ^a   Chiang, Sylvia W Y ^a   Tam, Pancy O S ^a   Lai, Timothy Y Y ^a   Chan, Carmen K M ^a   Wang, Ningli ^c   Lam, Dennis S C ^a   Pang, Chi Pui ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b Ningxia People's Hospital   (China)

^c CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CAUCASIAN; CHILD; CHINESE; COMPUTER MODEL; CONTROLLED STUDY; DNA SEQUENCE; EXON; EYE DISEASE; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HONG KONG; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; MATHEMATICAL ANALYSIS; MISSENSE MUTATION; NR2E3 GENE; NRL GENE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; S CONE SYNDROME; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; AMINO ACID SEQUENCE; ASIAN; CHINA; COMPARATIVE STUDY; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; MUTATION;

BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR; EYE PROTEIN; NR2E3 PROTEIN, HUMAN; NRL PROTEIN, HUMAN; ORPHAN NUCLEAR RECEPTOR;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHILD; CHINA; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; ORPHAN NUCLEAR RECEPTORS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 77951232400     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-4299     Document Type: Article

References (50)

1. Berson EL, Rosner B, Sandberg MA, et al. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol. 1993;111:761-772.
2. Boughman JA, Conneally PM, Nance WE. Population genetic studies of retinitis pigmentosa. Am J Hum Genet. 1980;32:223-235.
3. Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol. 1984;97:357-365.
4. Grondahl J. Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway. Clin Genet. 1987;31:255-264.
5. Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol. 1982;66:405-416.
6. Puech B, Kostrubiec B, Hache JC, Francois P. Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France (in French). J Fr Ophtalmol. 1991;14:153-164.
7. Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet. 2002;11:1219-1227.
8. Guillonneau X, Piriev NI, Danciger M, et al. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum Mol Genet. 1999;8:1541-1546.
9. Wang DY, Chan WM, Tam PO, et al. Gene mutations in retinitis pigmentosa and their clinical implications. Clin Chim Acta. 2005;351:5-16.
10. Berson EL, Grimsby JL, Adams SM, et al. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Ophthalmol Vis Sci. 2001;42:2217-2224.
11. Bunge S, Wedemann H, David D, et al. Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa. Genomics. 1993;17:230-233.
12. Dryja TP, McEvoy JA, McGee TL, Berson EL. Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000;41:3124-3127.
13. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368:1795-1809.
14. Khaliq S, Abid A, Ismail M, et al. Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. J Med Genet. 2005;42:436-438.
15. Kumaramanickavel G, Maw M, Denton MJ, et al. Missense rhodopsin mutation in a family with recessive RP. Nat Genet. 1994;8:10-11.
16. Riazuddin SA, Zulfiqar F, Zhang Q, et al. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. Invest Ophthalmol Vis Sci. 2005;46:2264-2270.
17. Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992;1:209-213
18. Sohocki MM, Daiger SP, Bowne SJ, et al. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17:42-51.
19. Sullivan LS, Bowne SJ, Birch DG, et al. Prevalence of diseasecausing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci. 2006;47:3052-3064.
20. Baum L, Chan WM, Yeung KY, Lam DS, Kwok AK, Pang CP. RP1 in Chinese: eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa. Hum Mutat. 2001;17:436.
21. Chan WM, Yeung KY, Pang CP, et al. Rhodopsin mutations in Chinese patients with retinitis pigmentosa. Br J Ophthalmol. 2001;85:1046-1048.
22. Chiang SW, Wang DY, Chan WM, et al. A novel missense RP1 mutation in retinitis pigmentosa. Eye. 2006;20:602-605.
23. Chen J, Rattner A, Nathans J. The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple conespecific genes. J Neurosci. 2005;25:118-129.
24. Peng GH, Ahmad O, Ahmad F, Liu J, Chen S. The photoreceptorspecific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. Hum Mol Genet. 2005;14:747-764.
25. Mears AJ, Kondo M, Swain PK, et al. Nrl is required for rod photoreceptor development. Nat Genet. 2001;29:447-452.
26. Oh EC, Khan N, Novelli E, Khanna H, Strettoi E, Swaroop A. Transformation of cone precursors to functional rod photoreceptors by bZIP transcription factor NRL. Proc Natl Acad Sci U S A. 2007;104:1679-1684.
27. Oh EC, Cheng H, Hao H, Jia L, Khan NW, Swaroop A. Rod differentiation factor NRL activates the expression of nuclear receptor NR2E3 to suppress the development of cone photoreceptors. Brain Res. 2008;1236:16-29.
28. Cheng H, Khanna H, Oh EC, Hicks D, Mitton KP, Swaroop A. Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors. Hum Mol Genet. 2004;13:1563-1575.
29. Cheng H, Aleman TS, Cideciyan AV, Khanna R, Jacobson SG, Swaroop A. In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Hum Mol Genet. 2006;15:2588-2602.
30. Corbo JC, Cepko CL. A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. PLoS Genet. 2005;1:e11.
31. Gire AI, Sullivan LS, Bowne SJ, et al. The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Mol Vis. 2007;13:1970-1975.
32. Schorderet DF, Escher P. NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). Hum Mutat. 2009;30(11):1475-1485.
33. Coppieters F, Leroy BP, Beysen D, et al. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet. 2007; 81:147-157.
34. Escher P, Gouras P, Roduit R, et al. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. Hum Mutat. 2009;30:342-351.
35. Bessant DA, Holder GE, Fitzke FW, Payne AM, Bhattacharya SS, Bird AC. Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. Arch Ophthalmol. 2003;121:793-802.
36. Martinez-Gimeno M, Maseras M, Baiget M, et al. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. Hum Mutat. 2001;17:520.
37. Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP. Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci U S A. 2004;101:17819-17824.
38. Wright AF, Reddick AC, Schwartz SB, et al. Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. Hum Mutat. 2004;24:439.
39. Hubbard T, Barker D, Birney E, et al. The Ensembl genome database project. Nucleic Acids Res. 2002;30:38-41
40. Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000;24:127-131.
41. Notredame C, Higgins DG, Heringa J. T-Coffee: a novel method for fast and accurate multiple sequence alignment. J Mol Biol. 2000; 362:205-217.
42. Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol. 2003;121:1316-1323.
43. Bernal S, Solans T, Gamundi MJ, et al. Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. Clin Genet. 2008;73:360-366.
44. Bessant DA, Payne AM, Mitton KP, et al. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat Genet. 1999;21:355-356.
45. Fradot M, Lorentz O, Wurtz JM, Sahel JA, Leveillard T. The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome. Mol Vis. 2007;13:594-601.
46. Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. Ophthalmology. 2005;112:2115.
47. Bessant DA, Payne AM, Plant C, Bird AC, Swaroop A, Bhattacharya SS. NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies. Eur J Hum Genet. 2000;8:783-787.
48. DeAngelis MM, Grimsby JL, Sandberg MA, Berson EL, Dryja TP. Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. Arch Ophthalmol. 2002;120:369-375.
49. Ziviello C, Simonelli F, Testa F, et al. Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. J Med Genet. 2005;42:e47.
50. Kanda A, Friedman JS, Nishiguchi KM, Swaroop A. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. Hum Mutat. 2007;28:589-598