Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies

Clinical Genetics

Volumn 73, Issue 4, 2008, Pages 360-366

  Bernal, S ^a   Solans, T ^a   Gamundi, M J ^b   Hernan, I ^b   De Jorge, L ^a   Carballo, M ^b   Navarro, R ^c   Tizzano, E ^a,d   Ayuso, C ^e   Baiget, M ^a,d  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^b HOSPITAL DE TERRASSA   (Spain)

^c Ocular Microsurgery Institute   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

NR2E3 gene mutations; NR2E3 transcripts; Polymorphisms; Retinal dystrophies

Indexed keywords

GENOMIC DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NR2E3; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; COMPUTER PROGRAM; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; RETINA DISEASE; RETINA DYSTROPHY; RNA SPLICING; STOP CODON;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POINT MUTATION; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RETINAL DEGENERATION; TRANSCRIPTION FACTORS;

EID: 40749086104     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.00963.x     Document Type: Article

References (16)

1. 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.
2. Haider NB, Demarco P, Nystuen AM et al. The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation. Vis Neurosci 2006: 23 (6): 917-929.
3. Peng GH, Ahmad O, Ahmad F, Liu J, Chen S. The photoreceptor-specific 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.
4. Milam AH, Rose L, Cideciyan AV et al. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A 2002: 99: 473-478.
5. 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.
6. 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.
7. 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.
8. Chavala SH, Sari A, Lewis H et al. An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. Br J Ophthalmol 2005: 89: 1065-1066.
9. Gerber S, Rozet JM, Takezawa SI et al. 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 2000: 107: 276-284.
10. 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.
11. Iannaccone A. The genetics of hereditary retinopathies and optic neuropathies. Compr Ophthalmol Update 2005: 6: 39-62.
12. Jacobson SG, Marmor MF, Kemp CM, Knighton RW. SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci 1990: 31: 827-838.
13. To KW, Adamian M, Jakobiec FA, Berson EL. Clinical and histopathologic findings in clumped pigmentary retinal degeneration. Arch Ophthalmol 1996: 114: 950-955.
14. Marmor MF, Zrenner E. Standard for clinical electroretinography. International Society for Clinical Electrophysiology of Vision. Doc Ophthalmol 1998 -1999: 97 (2): 143-156.
15. Miller SA, Dykes DD, Polesky H. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1989: 16: 1215.
16. Frischmeyer PA, van Hoof A, O'Donnell K, Guerrerio AL, Parker R, Dietz HC. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 2002: 22 (295): 2258-2261.