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Volumn 8, Issue 3, 2013, Pages

RNAi-Mediated Gene Suppression in a GCAP1(L151F) Cone-Rod Dystrophy Mouse Model

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN; GUANYLATE CYCLASE ACTIVATING PROTEIN 1; GUANYLATE CYCLASE ACTIVATOR; MG1HP4; PARVOVIRUS VECTOR; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG; SMALL INTERFERING RNA;

EID: 84874604998     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0057676     Document Type: Article
Times cited : (15)

References (40)
  • 2
    • 79959594780 scopus 로고    scopus 로고
    • GCAP1 Mutations Associated with Autosomal Dominant Cone Dystrophy
    • Jiang L, Baehr W, (2010) GCAP1 Mutations Associated with Autosomal Dominant Cone Dystrophy. Adv Exp Med Biol 664: 273-282.
    • (2010) Adv Exp Med Biol , vol.664 , pp. 273-282
    • Jiang, L.1    Baehr, W.2
  • 3
    • 67349122017 scopus 로고    scopus 로고
    • Focus on molecules: guanylate cyclase-activating proteins (GCAPs)
    • Baehr W, Palczewski K, (2009) Focus on molecules: guanylate cyclase-activating proteins (GCAPs). Exp Eye Res 89: 2-3.
    • (2009) Exp Eye Res , vol.89 , pp. 2-3
    • Baehr, W.1    Palczewski, K.2
  • 4
    • 81055141290 scopus 로고    scopus 로고
    • Long-term RNA interference gene therapy in a dominant retinitis pigmentosa mouse model
    • Jiang L, Zhang H, Dizhoor AM, Boye SE, Hauswirth WW, et al. (2011) Long-term RNA interference gene therapy in a dominant retinitis pigmentosa mouse model. Proc Natl Acad Sci U S A 108: 18476-18481.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 18476-18481
    • Jiang, L.1    Zhang, H.2    Dizhoor, A.M.3    Boye, S.E.4    Hauswirth, W.W.5
  • 5
    • 34247843072 scopus 로고    scopus 로고
    • The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors
    • Baehr W, Karan S, Maeda T, Luo DG, Li S, et al. (2007) The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors. J Biol Chem 282: 8837-8847.
    • (2007) J Biol Chem , vol.282 , pp. 8837-8847
    • Baehr, W.1    Karan, S.2    Maeda, T.3    Luo, D.G.4    Li, S.5
  • 6
    • 18244420029 scopus 로고    scopus 로고
    • Gene array and expression of mouse retina guanylate cyclase activating proteins 1 and 2
    • Howes KA, Bronson JD, Dang YL, Li N, Zhang K, et al. (1998) Gene array and expression of mouse retina guanylate cyclase activating proteins 1 and 2. Invest Ophthalmol & Vis Sci 39: 867-875.
    • (1998) Invest Ophthalmol & Vis Sci , vol.39 , pp. 867-875
    • Howes, K.A.1    Bronson, J.D.2    Dang, Y.L.3    Li, N.4    Zhang, K.5
  • 7
    • 17144433335 scopus 로고    scopus 로고
    • Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina
    • Yang RB, Fulle HJ, Garbers DL, (1996) Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina. Genomics 31: 367-372.
    • (1996) Genomics , vol.31 , pp. 367-372
    • Yang, R.B.1    Fulle, H.J.2    Garbers, D.L.3
  • 8
    • 0035859947 scopus 로고    scopus 로고
    • Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors
    • Mendez A, Burns ME, Sokal I, Dizhoor AM, Baehr W, et al. (2001) Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors. Proc Natl Acad Sci U S A 98: 9948-9953.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , pp. 9948-9953
    • Mendez, A.1    Burns, M.E.2    Sokal, I.3    Dizhoor, A.M.4    Baehr, W.5
  • 9
    • 0037495752 scopus 로고    scopus 로고
    • GCAP1 rescues rod photoreceptor response in GCAP1/GCAP2 knockout mice
    • Howes KA, Pennesi ME, Sokal I, Church-Kopish J, Schmidt B, et al. (2002) GCAP1 rescues rod photoreceptor response in GCAP1/GCAP2 knockout mice. EMBO J 21: 1545-1554.
    • (2002) EMBO J , vol.21 , pp. 1545-1554
    • Howes, K.A.1    Pennesi, M.E.2    Sokal, I.3    Church-Kopish, J.4    Schmidt, B.5
  • 10
    • 57649223578 scopus 로고    scopus 로고
    • A role for GCAP2 in regulating the photoresponse. Guanylyl cyclase activation and rod electrophysiology in GUCA1B knock-out mice
    • Makino CL, Peshenko IV, Wen XH, Olshevskaya EV, Barrett R, et al. (2008) A role for GCAP2 in regulating the photoresponse. Guanylyl cyclase activation and rod electrophysiology in GUCA1B knock-out mice. J Biol Chem 283: 29135-29143.
    • (2008) J Biol Chem , vol.283 , pp. 29135-29143
    • Makino, C.L.1    Peshenko, I.V.2    Wen, X.H.3    Olshevskaya, E.V.4    Barrett, R.5
  • 11
    • 84867656888 scopus 로고    scopus 로고
    • Enzymatic Relay Mechanism Stimulates Cyclic GMP Synthesis in Rod Photoresponse: Biochemical and Physiological Study in Guanylyl Cyclase Activating Protein 1 Knockout Mice
    • Makino CL, Wen XH, Olshevskaya EV, Peshenko IV, Savchenko AB, et al. (2012) Enzymatic Relay Mechanism Stimulates Cyclic GMP Synthesis in Rod Photoresponse: Biochemical and Physiological Study in Guanylyl Cyclase Activating Protein 1 Knockout Mice. PLoS ONE 7: e47637.
    • (2012) PLoS ONE , vol.7
    • Makino, C.L.1    Wen, X.H.2    Olshevskaya, E.V.3    Peshenko, I.V.4    Savchenko, A.B.5
  • 12
    • 0038651016 scopus 로고    scopus 로고
    • Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1/GCAP2 knockout mice
    • Pennesi ME, Howes KA, Baehr W, Wu SM, (2003) Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1/GCAP2 knockout mice. Proc Natl Acad Sci U S A 100: 6783-6788.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 6783-6788
    • Pennesi, M.E.1    Howes, K.A.2    Baehr, W.3    Wu, S.M.4
  • 13
    • 4444373996 scopus 로고    scopus 로고
    • Guanylate cyclase-activating proteins: structure, function, and diversity
    • Palczewski K, Sokal I, Baehr W, (2004) Guanylate cyclase-activating proteins: structure, function, and diversity. Biochem Biophys Res Commun 322: 1123-1130.
    • (2004) Biochem Biophys Res Commun , vol.322 , pp. 1123-1130
    • Palczewski, K.1    Sokal, I.2    Baehr, W.3
  • 14
    • 0032488603 scopus 로고    scopus 로고
    • Changes in biological activity and folding of guanylate cyclase-activating protein 1 as a function of calcium
    • Rudnicka-Nawrot M, Surgucheva I, Hulmes JD, Haeseleer F, Sokal I, et al. (1998) Changes in biological activity and folding of guanylate cyclase-activating protein 1 as a function of calcium. Biochemistry 37: 248-257.
    • (1998) Biochemistry , vol.37 , pp. 248-257
    • Rudnicka-Nawrot, M.1    Surgucheva, I.2    Hulmes, J.D.3    Haeseleer, F.4    Sokal, I.5
  • 15
    • 38849133024 scopus 로고    scopus 로고
    • Guanylate cyclase-activating proteins and retina disease
    • Baehr W, Palczewski K, (2007) Guanylate cyclase-activating proteins and retina disease. Subcell Biochem 45: 71-91.
    • (2007) Subcell Biochem , vol.45 , pp. 71-91
    • Baehr, W.1    Palczewski, K.2
  • 16
    • 0034888202 scopus 로고    scopus 로고
    • Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy
    • Wilkie SE, Li Y, Deery EC, Newbold RJ, Garibaldi D, et al. (2001) Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. Am J Hum Genet 69: 471-480.
    • (2001) Am J Hum Genet , vol.69 , pp. 471-480
    • Wilkie, S.E.1    Li, Y.2    Deery, E.C.3    Newbold, R.J.4    Garibaldi, D.5
  • 17
    • 18244406564 scopus 로고    scopus 로고
    • A GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)
    • Sokal I, Dupps WJ, Grassi MA, Brown J Jr, Affatigato LM, et al. (2005) A GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). Invest Ophthalmol Vis Sci 46: 1124-1132.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 1124-1132
    • Sokal, I.1    Dupps, W.J.2    Grassi, M.A.3    Brown Jr., J.4    Affatigato, L.M.5
  • 18
    • 4444329802 scopus 로고    scopus 로고
    • A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration
    • Nishiguchi KM, Sokal I, Yang L, Roychowdhury N, Palczewski K, et al. (2004) A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Invest Ophthalmol Vis Sci 45: 3863-3870.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 3863-3870
    • Nishiguchi, K.M.1    Sokal, I.2    Yang, L.3    Roychowdhury, N.4    Palczewski, K.5
  • 19
    • 67749108203 scopus 로고    scopus 로고
    • Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase
    • Kitiratschky VB, Behnen P, Kellner U, Heckenlively JR, Zrenner E, et al. (2009) Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat 30: E782-E796.
    • (2009) Hum Mutat , vol.30
    • Kitiratschky, V.B.1    Behnen, P.2    Kellner, U.3    Heckenlively, J.R.4    Zrenner, E.5
  • 20
    • 53049099571 scopus 로고    scopus 로고
    • A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy
    • Jiang L, Wheaton D, Bereta G, Zhang K, Palczewski K, et al. (2008) A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy. Vision Res 48: 2425-2432.
    • (2008) Vision Res , vol.48 , pp. 2425-2432
    • Jiang, L.1    Wheaton, D.2    Bereta, G.3    Zhang, K.4    Palczewski, K.5
  • 21
    • 0032112324 scopus 로고    scopus 로고
    • GCAP1(Y99C) mutant is constitutively active in autosomal dominant cone dystrophy
    • Sokal I, Li N, Surgucheva I, Warren MJ, Payne AM, et al. (1998) GCAP1(Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. Mol Cell 2: 129-133.
    • (1998) Mol Cell , vol.2 , pp. 129-133
    • Sokal, I.1    Li, N.2    Surgucheva, I.3    Warren, M.J.4    Payne, A.M.5
  • 22
    • 0032504145 scopus 로고    scopus 로고
    • Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration
    • Dizhoor AM, Boikov SG, Olshevskaya EV, (1998) Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration. J Biol Chem 273: 17311-17314.
    • (1998) J Biol Chem , vol.273 , pp. 17311-17314
    • Dizhoor, A.M.1    Boikov, S.G.2    Olshevskaya, E.V.3
  • 23
    • 25444525756 scopus 로고    scopus 로고
    • Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A)
    • Jiang L, Katz BJ, Yang Z, Zhao Y, Faulkner N, et al. (2005) Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). Mol Vis 11: 143-151.
    • (2005) Mol Vis , vol.11 , pp. 143-151
    • Jiang, L.1    Katz, B.J.2    Yang, Z.3    Zhao, Y.4    Faulkner, N.5
  • 24
    • 34548087004 scopus 로고    scopus 로고
    • Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark
    • Woodruff ML, Olshevskaya EV, Savchenko AB, Peshenko IV, Barrett R, et al. (2007) Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark. J Neurosci 27: 8805-8815.
    • (2007) J Neurosci , vol.27 , pp. 8805-8815
    • Woodruff, M.L.1    Olshevskaya, E.V.2    Savchenko, A.B.3    Peshenko, I.V.4    Barrett, R.5
  • 25
    • 3042789501 scopus 로고    scopus 로고
    • The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice
    • Olshevskaya EV, Calvert PD, Woodruff ML, Peshenko IV, Savchenko AB, et al. (2004) The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice. J Neurosci 24: 6078-6085.
    • (2004) J Neurosci , vol.24 , pp. 6078-6085
    • Olshevskaya, E.V.1    Calvert, P.D.2    Woodruff, M.L.3    Peshenko, I.V.4    Savchenko, A.B.5
  • 26
    • 79953134438 scopus 로고    scopus 로고
    • Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene
    • Buch PK, Mihelec M, Cottrill P, Wilkie SE, Pearson RA, et al. (2011) Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. PLoS ONE 6: e18089.
    • (2011) PLoS ONE , vol.6
    • Buch, P.K.1    Mihelec, M.2    Cottrill, P.3    Wilkie, S.E.4    Pearson, R.A.5
  • 27
    • 0031664853 scopus 로고    scopus 로고
    • A new logic for DNA engineering using recombination in Escherichia coli
    • Zhang Y, Buchholz F, Muyrers JP, Stewart AF, (1998) A new logic for DNA engineering using recombination in Escherichia coli. Nat Genet 20: 123-128.
    • (1998) Nat Genet , vol.20 , pp. 123-128
    • Zhang, Y.1    Buchholz, F.2    Muyrers, J.P.3    Stewart, A.F.4
  • 28
    • 9444222740 scopus 로고    scopus 로고
    • Rapid quantification of adult and developing mouse spatial vision using a virtual optomotor system
    • Prusky GT, Alam NM, Beekman S, Douglas RM, (2004) Rapid quantification of adult and developing mouse spatial vision using a virtual optomotor system. Invest Ophthalmol Vis Sci 45: 4611-4616.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 4611-4616
    • Prusky, G.T.1    Alam, N.M.2    Beekman, S.3    Douglas, R.M.4
  • 29
    • 0033022953 scopus 로고    scopus 로고
    • Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield
    • Zolotukhin S, Byrne BJ, Mason E, Zolotukhin I, Potter M, et al. (1999) Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield. Gene Ther 6: 973-985.
    • (1999) Gene Ther , vol.6 , pp. 973-985
    • Zolotukhin, S.1    Byrne, B.J.2    Mason, E.3    Zolotukhin, I.4    Potter, M.5
  • 30
    • 75049084862 scopus 로고    scopus 로고
    • Guanylate cyclases and associated activator proteins in retinal disease
    • Hunt DM, Buch P, Michaelides M, (2010) Guanylate cyclases and associated activator proteins in retinal disease. Mol Cell Biochem 334: 157-168.
    • (2010) Mol Cell Biochem , vol.334 , pp. 157-168
    • Hunt, D.M.1    Buch, P.2    Michaelides, M.3
  • 31
    • 33747799289 scopus 로고    scopus 로고
    • Enhancing and confirming the specificity of RNAi experiments
    • Cullen BR, (2006) Enhancing and confirming the specificity of RNAi experiments. Nat Methods 3: 677-681.
    • (2006) Nat Methods , vol.3 , pp. 677-681
    • Cullen, B.R.1
  • 32
    • 75049084576 scopus 로고    scopus 로고
    • Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion
    • Karan S, Frederick JM, Baehr W, (2010) Novel functions of photoreceptor guanylate cyclases revealed by targeted deletion. Mol Cell Biochem 334: 141-155.
    • (2010) Mol Cell Biochem , vol.334 , pp. 141-155
    • Karan, S.1    Frederick, J.M.2    Baehr, W.3
  • 33
    • 0037091102 scopus 로고    scopus 로고
    • Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy
    • Chen S, Wang QL, Xu S, Liu I, Li LY, et al. (2002) Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy. Hum Mol Genet 11: 873-884.
    • (2002) Hum Mol Genet , vol.11 , pp. 873-884
    • Chen, S.1    Wang, Q.L.2    Xu, S.3    Liu, I.4    Li, L.Y.5
  • 34
    • 0030669568 scopus 로고    scopus 로고
    • Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
    • Freund CL, Gregory EC, Furukawa T, Papaioannou M, Looser J, et al. (1997) Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91: 543-553.
    • (1997) Cell , vol.91 , pp. 543-553
    • Freund, C.L.1    Gregory, E.C.2    Furukawa, T.3    Papaioannou, M.4    Looser, J.5
  • 35
    • 0030725687 scopus 로고    scopus 로고
    • Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation
    • Furukawa T, Morrow EM, Cepko CL, (1997) Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell 91: 531-541.
    • (1997) Cell , vol.91 , pp. 531-541
    • Furukawa, T.1    Morrow, E.M.2    Cepko, C.L.3
  • 36
    • 79952217011 scopus 로고    scopus 로고
    • Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining
    • Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, et al. (2011) Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Invest Ophthalmol Vis Sci 52: 70-79.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 70-79
    • Jacobson, S.G.1    Cideciyan, A.V.2    Aleman, T.S.3    Sumaroka, A.4    Roman, A.J.5
  • 37
    • 77950647146 scopus 로고    scopus 로고
    • The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells
    • Kirschman LT, Kolandaivelu S, Frederick JM, Dang L, Goldberg AF, et al. (2010) The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells. Hum Mol Genet 19: 1076-1087.
    • (2010) Hum Mol Genet , vol.19 , pp. 1076-1087
    • Kirschman, L.T.1    Kolandaivelu, S.2    Frederick, J.M.3    Dang, L.4    Goldberg, A.F.5
  • 38
    • 66149101630 scopus 로고    scopus 로고
    • Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors
    • Tan MH, Smith AJ, Pawlyk B, Xu X, Liu X, et al. (2009) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. Hum Mol Genet 18: 2099-2114.
    • (2009) Hum Mol Genet , vol.18 , pp. 2099-2114
    • Tan, M.H.1    Smith, A.J.2    Pawlyk, B.3    Xu, X.4    Liu, X.5
  • 39
    • 78651387937 scopus 로고    scopus 로고
    • Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy
    • Arrigoni FI, Matarin M, Thompson PJ, Michaelides M, McClements ME, et al. (2011) Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. Eur J Hum Genet 19: 131-137.
    • (2011) Eur J Hum Genet , vol.19 , pp. 131-137
    • Arrigoni, F.I.1    Matarin, M.2    Thompson, P.J.3    Michaelides, M.4    McClements, M.E.5
  • 40
    • 69949135236 scopus 로고    scopus 로고
    • Cone-rod dystrophy and a frameshift mutation in the PROM1 gene
    • Pras E, Abu A, Rotenstreich Y, Avni I, Reish O, et al. (2009) Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. Mol Vis 15: 1709-1716.
    • (2009) Mol Vis , vol.15 , pp. 1709-1716
    • Pras, E.1    Abu, A.2    Rotenstreich, Y.3    Avni, I.4    Reish, O.5


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