Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa

Clinical Genetics

Volumn 82, Issue 5, 2012, Pages 446-452

  Hernan, I ^a   Gamundi, M J ^a   Borras E ^a   Maseras, M ^a   Garcia Sandoval B ^b   Blanco Kelly, F ^b   Ayuso, C ^b   Carballo, M ^a  

^a HOSPITAL DE TERRASSA   (Spain)

^b INSTITUTO DE INVESTIGACIÓN SANITARIA DEL HOSPITAL CLÍNICO SAN CARLOS IDISSC   (Spain)

Author keywords

Autosomal dominant retinitis pigmentosa; NRL gene; RNA interference; Suppression and replacement

Indexed keywords

CYTOSINE; METHIONINE; NEURAL RETINA LEUCINE ZIPPER PROTEIN; RHODOPSIN; SHORT HAIRPIN RNA; SMALL HAIRPIN RNA NRL69; THREONINE; THYMINE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; GAIN OF FUNCTION MUTATION; GENE SEQUENCE; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; UPREGULATION;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS; CERCOPITHECUS AETHIOPS; COS CELLS; EYE PROTEINS; GENES, DOMINANT; GENETIC HETEROGENEITY; GENETIC VARIATION; HOMEODOMAIN PROTEINS; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; RETINITIS PIGMENTOSA; RHODOPSIN; RNA, SMALL INTERFERING; TRANS-ACTIVATORS; TRANSCRIPTIONAL ACTIVATION; UP-REGULATION;

EID: 84867640997     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01796.x     Document Type: Article

References (23)

1. Martínez-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: 520-524.
2. 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.
3. 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.
4. Sullivan LS, Bowne SJ, Birch DG et al. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci 2006: 47: 3052-3064.
5. 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.
6. Swain PK, Hicks D, Mears AJ et al. Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors. J Biol Chem 2001: 276: 36824-36830.
7. Akimoto M, Cheng H, Zhu D et al. Targeting of GFP to newborn rods by Nrl promoter and temporal expression profiling of flow-sorted photoreceptors. Proc Natl Acad Sci U S A 2006: 103: 3890-3895.
8. Hennig AK, Peng GH, Chen S. Regulation of photoreceptor gene expression by Crx-associated transcription factor network. Brain Res 2008: 1192: 114-133.
9. 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.
10. Mitton KP, Swain PK, Chen S, Xu S, Zack DJ, Swaroop A. The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. J Biol Chem 2000: 275: 29794-29799.
11. 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.
12. Rehemtulla A, Warwar R, Kumar R, Ji X, Zack DJ, Swaroop A. The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression. Proc Natl Acad Sci U S A 1996: 93: 191-195.
13. O'Neill B, Millington-Ward S, O'Reilly M et al. Ribozyme-based therapeutic approaches for autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2000: 41: 2863-2869.
14. Hauswirth WW, LaVail MM, Flannery JG, Lewin AS. Ribozyme gene therapy for autosomal dominant retinal disease. Clin Chem Lab Med 2000: 38: 147-153.
15. Teusner JT, Lewin AS, Hauswirth WW. Down-regulation of rhodopsin gene expression by AAV-vectored short interfering RNA. Adv Exp Med Biol 2006: 572: 233-238.
16. Gorbatyuk M, Justilien V, Liu J, Hauswirth WW, Lewin AS. Suppression of mouse rhodopsin expression in vivo by AAV mediated siRNA delivery. Vision Res 2007: 47: 1202-1208.
17. Cashman SM, Binkley EA, Kumar-Singh R. Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference. Gene Ther 2005: 12: 1223-1228.
18. Kiang AS, Palfi A, Ader M et al. Toward a gene therapy for dominant disease: validation of an RNA interference-based mutation-independent approach. Mol Ther 2005: 12: 555-561.
19. O'Reilly M, Palfi A, Chadderton N et al. RNA interference-mediated suppression and replacement of human rhodopsin in vivo. Am J Hum Genet 2007: 81: 127-135.
20. O'Reilly M, Millington-Ward S, Palfi A et al. A transgenic mouse model for gene therapy of rhodopsin-linked Retinitis Pigmentosa. Vision Res 2008: 48: 386-391.
21. Palfi A, Ader M, Kiang AS et al. RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture. Hum Mutat 2006: 27: 260-268.
22. Pelletier R, Caron SO, Puymirat J. RNA based gene therapy for dominantly inherited diseases. Curr Gene Ther 2006: 6: 131-146.
23. Grimm D, Kay MA. Combinatorial RNAi: a winning strategy for the race against evolving targets? Mol Ther 2007: 15: 878-888.