Gucy2f zebrafish knockdown-a model for Gucy2d-related leber congenital amaurosis

European Journal of Human Genetics

Volumn 20, Issue 8, 2012, Pages 884-889

  Stiebel Kalish, Hadas ^a,b   Reich, Ehud ^a,b   Rainy, Nir ^b   Vatine, Gad ^b   Nisgav, Yael ^b   Tovar, Anna ^a   Gothilf, Yoav ^b   Bach, Michael ^c  

^a RABIN MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

animal model; GUCY2D; leber congenital amaurosis; optomotor assay

Indexed keywords

COMPLEMENTARY DNA; MORPHOLINO OLIGONUCLEOTIDE;

ANIMAL TISSUE; ARTICLE; COLOR VISION; CONTROLLED STUDY; EMBRYO; FEASIBILITY STUDY; GENE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENE TARGETING; GUCY2D GENE; GUCY2F GENE; HISTOLOGY; IN SITU HYBRIDIZATION; LARVA; LEBER CONGENITAL AMAUROSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHOTORECEPTOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA CONE; RETINA DEVELOPMENT; RETINA DYSTROPHY; RETINA ROD; TRANSGENICS; VISUAL DISORDER; ZEBRA FISH;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; DISEASE MODELS, ANIMAL; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE KNOCKDOWN TECHNIQUES; GUANYLATE CYCLASE; LEBER CONGENITAL AMAUROSIS; MALE; RECEPTORS, CELL SURFACE; RETINAL DYSTROPHIES; VISION, OCULAR; ZEBRAFISH;

ANIMALIA; DANIO RERIO; RODENTIA;

EID: 84864123683     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.10     Document Type: Article

References (49)

1. Li L, Xiao X, Li S et al: Detection of variants in 15 genes in 87 unrelated Chinese patients with leber congenital amaurosis. PLoS One 2011; 6:: e19458.
2. Sergouniotis PI, Davidson AE, Mackay DS et al:: Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am J Hum Genet 2011; 89:: 183-190.
3. Perrault I, Rozet JM, Gerber S et al:: Spectrum of retGC1 mutations in leber's congenital amaurosis. Eur J Hum Genet 2000; 8:: 578-582. (Pubitemid 30639363)
4. Cideciyan AV:: Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog Retin Eye Res 2010; 29:: 398-427.
5. Maguire AM, Simonelli F, Pierce EA et al: Safety and efficacy of gene transfer for leber's congenital amaurosis. N Engl J Med 2008; 358: 2240-2248. (Pubitemid 351724453)
6. Acland GM, Aguirre GD, Ray J et al: Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001; 28: 92-95. (Pubitemid 32405824)
7. Pang J, Cheng M, Haire SE et al: Efficiency of lentiviral transduction during development in normal and rd mice. Mol Vis 2006; 12: 756-767. (Pubitemid 44044579)
8. Dejneka NS, Surace EM, Aleman TS et al: In utero gene therapy rescues vision in a murine model of congenital blindness. Mol Ther 2004; 9: 182-188. (Pubitemid 38256544)
9. Sprague J, Bayraktaroglu L, Bradford Y et al: The zebrafish information network: The zebrafish model organism database provides expanded support for genotypes and phenotypes. Nucleic Acids Res 2008; 36 (database issue): D768-D772. (Pubitemid 351149821)
10. Veldman MB, Lin S: Zebrafish as a developmental model organism for pediatric research. Pediatr Res 2008; 64: 470-476.
11. Penberthy WT, Shafizadeh E, Lin S: The zebrafish as a model for human disease. Front Biosci 2002; 7: d1439-d1453.
12. Sprague J, Bayraktaroglu L, Clements D et al: The zebrafish information network: the zebrafish model organism database. Nucleic Acids Res 2006; 34 (database issue): D581-D585.
13. Gestri G, Link BA, Neuhauss SC: The visual system of zebrafish and its use to model human ocular diseases. Dev Neurobiol 2011.
14. Maurer CM, Huang YY, Neuhauss SC: Application of zebrafish oculomotor behavior to model human disorders. Rev Neurosci 2011; 22: 5-16.
15. Fadool JM, Dowling JE: Zebrafish: a model system for the study of eye genetics. Prog Retin Eye Res 2008; 27: 89-110.
16. Brockerhoff SE, Fadool JM: Genetics of photoreceptor degeneration and regeneration in zebrafish. Cell Mol Life Sci 2011; 68: 651-659.
17. Mueller KP, Neuhauss SC: Quantitative measurements of the optokinetic response in adult fish. J Neurosci Methods 2009; 186: 29-34.
18. Huang YY, Neuhauss SC: The optokinetic response in zebrafish and its applications. Front Biosci 2008; 13: 1899-1916. (Pubitemid 351599743)
19. Brockerhoff SE: Measuring the optokinetic response of zebrafish larvae. Nat Protoc 2006; 1: 2448-2451.
20. Muto A, Orger MB, Wehman AM et al: Forward genetic analysis of visual behavior in zebrafish. PLoS Genet 2005; 1: e66.
21. Neuhauss SC, Biehlmaier O, Seeliger MW et al: Genetic disorders of vision revealed by a behavioral screen of 400 essential loci in zebrafish. J Neurosci 1999; 19: 8603-8615. (Pubitemid 30226778)
22. Neuhauss SC: Behavioral genetic approaches to visual system development and function in zebrafish. J Neurobiol 2003; 54: 148-160. (Pubitemid 36043672)
23. Yan Z, Sun X, Engelhardt JF: Progress and prospects: techniques for site-directed mutagenesis in animal models. Gene Ther 2009; 16: 581-588.
24. Baye LM, Patrinostro X, Swaminathan S et al: The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Hum Mol Genet 2011; 20: 1467-1477.
25. Abraham E, Palevitch O, Gothilf Y et al: Targeted gonadotropin-releasing hormone-3 neuron ablation in zebrafish: Effects on neurogenesis, neuronal migration, and reproduction. Endocrinology 2010; 151: 332-340.
26. Palevitch O, Kight K, Abraham E et al: Ontogeny of the GnRH systems in zebrafish brain: In situ hybridization and promoter-reporter expression analyses in intact animals. Cell Tissue Res 2007; 327: 313-322. (Pubitemid 46011242)
27. Avanesov A, Malicki J: Approaches to study neurogenesis in the zebrafish retina. Methods Cell Biol 2004; 76: 333-384.
28. Avanesov A, Malicki J: Approaches to study neurogenesis in the zebrafish retina. Methods Cell Biol 2004; 76: 333-384.
29. Fleisch VC, Neuhauss SC: Visual behavior in zebrafish. Zebrafish 2006; 3: 191-201. (Pubitemid 43979329)
30. Neuhauss SC, Biehlmaier O, Seeliger MW et al: Genetic disorders of vision revealed by a behavioral screen of 400 essential loci in zebrafish. J Neurosci 1999; 19: 8603-8615. (Pubitemid 30226778)
31. Tsao-Wu GS, Weber CH, Budgeon LR et al: Agarose-embedded tissue arrays for histologic and genetic analysis. Biotechniques 1998; 25: 614-618. (Pubitemid 28465690)
32. Larison KD, Bremiller R: Early onset of phenotype and cell patterning in the embryonic zebrafish retina. Development 1990; 109: 567-576. (Pubitemid 20228651)
33. Gothilf Y, Coon SL, Toyama R et al: Zebrafish serotonin N-acetyltransferase-2: marker for development of pineal photoreceptors and circadian clock function. Endocrinology 1999; 140: 4895-4903. (Pubitemid 30666158)
34. Malicki J: Development of the retina. Methods Cell Biol 1999; 59: 273-299.
35. Kitiratschky VB, Wilke R, Renner AB et al: Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. Invest Ophthalmol Vis Sci 2008; 49: 5015-5023.
36. Payne AM, Morris AG, Downes SM et al: Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. J Med Genet 2001; 38: 611-614. (Pubitemid 32835623)
37. Ito S, Nakamura M, Nuno Y et al: Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy. Invest Ophthalmol Vis Sci 2004; 45: 1480-1485. (Pubitemid 38859328)
38. Hunt DM, Buch P, Michaelides M: Guanylate cyclases and associated activator proteins in retinal disease. Mol Cell Biochem 2010; 334: 157-168.
39. Perrault I, Rozet JM, Gerber S et al: Leber congenital amaurosis. Mol Genet Metab 1999; 68: 200-208. (Pubitemid 29501091)
40. Chung DC, Traboulsi EI: Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions. J AAPOS 2009; 13: 587-592.
41. Simonelli F, Ziviello C, Testa F et al: Clinical and molecular genetics of leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci 2007; 48: 4284-4290. (Pubitemid 351261060)
42. Pasadhika S, Fishman GA, Stone EM et al: Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related leber congenital amaurosis. Invest Ophthalmol Vis Sci 2010; 51: 2608-2614.
43. Perrault I, Rozet JM, Calvas P et al: Retinal-specific guanylate cyclase gene mutations in leber's congenital amaurosis. Nat Genet 1996; 14: 461-464. (Pubitemid 26414591)
44. Ratscho N, Scholten A, Koch KW: Expression profiles of three novel sensory guanylate cyclases and guanylate cyclase-activating proteins in the zebrafish retina. Biochim Biophys Acta 2009; 1793: 1110-1114.
45. Boye SL, Conlon T, Erger K et al: Long-term preservation of cone photoreceptors and restoration of cone function by gene therapy in the guanylate cyclase-1 knockout (GC1KO) mouse. Invest Ophthalmol Vis Sci 2011; 52: 7098-7108.
46. Milam AH, Barakat MR, Gupta N et al: Clinicopathologic effects of mutant GUCY2D in leber congenital amaurosis. Ophthalmology 2003; 110: 549-558. (Pubitemid 36262739)
47. Karan S, Frederick JM, Baehr W: Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion. Mol Cell Biochem 2010; 334: 141-155.
48. Semple-Rowland SL, Lee NR, Van Hooser JP et al: A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype. Proc Natl Acad Sci USA 1998; 95: 1271-1276. (Pubitemid 28124948)
49. Haire SE, Pang J, Boye SL et al: Light-driven cone arrestin translocation in cones of postnatal guanylate cyclase-1 knockout mouse retina treated with AAV-GC1. Invest Ophthalmol Vis Sci 2006; 47: 3745-3753. (Pubitemid 46044286)