RPGR gene therapy presents challenges in cloning the coding sequence

References

• Hanna E, Rémuzat C, Auquier P, et al. Gene therapies development: slow progress and promising prospect. J Mark Access Health Policy. 2017;5(1):1265293.
   PubMedGoogle Scholar
• Moore NA, Morral N, Ciulla TA, et al. Gene therapy for inherited retinal and optic nerve degenerations. Expert Opin Biol Ther. 2018;18(1):37–49.
   PubMed Web of Science ®Google Scholar
• Petrs-Silva H, Linden R. Advances in gene therapy technologies to treat retinitis pigmentosa. Clin Ophthalmol. 2014;8:127–136.
   PubMedGoogle Scholar
• Voretigene neparvovec-rzyl (Luxturna) for inherited retinal dystrophy. Med Lett Drugs Ther. 2018;60(1543):53–55.
   PubMed Web of Science ®Google Scholar
• Darrow JJ. Luxturna: FDA documents reveal the value of a costly gene therapy. Drug Discov Today. 2019;24(4):949–954.
   PubMed Web of Science ®Google Scholar
• Daiger SP. Retinal information network https://sph.uth.edu/RetNet/home.htm. 1996-2017.
   Google Scholar
• Flaxel CJ, Jay M, Thiselton DL, et al. Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa. Br J Ophthalmol. 1999;83(10):1144–1148.
   PubMed Web of Science ®Google Scholar
• Raghupathy RK, Gautier P, Soares DC, et al. Evolutionary characterization of the retinitis pigmentosa GTPase regulator gene. Invest Ophthalmol Vis Sci. 2015;56(11):6255–6264.
   PubMed Web of Science ®Google Scholar
• Webb TR, Parfitt DA, Gardner JC, et al. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). Hum Mol Genet. 2012;21(16):3647–3654.
   PubMed Web of Science ®Google Scholar
• Tee JJ, Smith AJ, Hardcastle AJ, et al. RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2016;100(8):1022–1027.
   PubMed Web of Science ®Google Scholar
• Campochiaro PA, Mir TA. The mechanism of cone cell death in Retinitis Pigmentosa. Prog Retin Eye Res. 2017;62:24–37.
   PubMed Web of Science ®Google Scholar
• Demirci FY, Rigatti BW, Wen G, et al. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet. 2002;70(4):1049–1053.
   PubMed Web of Science ®Google Scholar
• Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368(9549):1795–1809.
   PubMed Web of Science ®Google Scholar
• Chiang JPW, Lamey TM, Wang NK, et al. Development of high-throughput clinical testing of RPGR ORF15 using a large inherited retinal dystrophy cohort. Invest Ophthalmol Vis Sci. 2018;59(11):4434–4440.
   PubMed Web of Science ®Google Scholar
• Vervoort R, Lennon A, Bird AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000;25(4):462–466.
   PubMed Web of Science ®Google Scholar
• Zhao J, Bacolla A, Wang G, et al. Non-B DNA structure-induced genetic instability and evolution. Cell Mol Life Sci. 2010;67(1):43–62.
   PubMed Web of Science ®Google Scholar
• Sharon D, Sandberg MA, Rabe VW, et al. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003;73(5):1131–1146.
   PubMed Web of Science ®Google Scholar
• Ferreira PA. Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms. Hum Mol Genet. 2005;14(2):R259–67.
   PubMedGoogle Scholar
• Megaw RD, Soares DC, Wright AF. RPGR: its role in photoreceptor physiology, human disease, and future therapies. Exp Eye Res. 2015;138:32–41.
   PubMed Web of Science ®Google Scholar
• Thiadens AAHJ, Soerjoesing GG, Florijn RJ, et al. Clinical course of cone dystrophy caused by mutations in the RPGR gene. Graefes Arch Clin Exp Ophthalmol. 2011;249(10):1527–1535.
   PubMed Web of Science ®Google Scholar
• Yang L, Yin X, Feng L, et al. Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation. PLoS One. 2014;9(1):e85752.
   PubMed Web of Science ®Google Scholar
• Fahim AT, Bowne SJ, Sullivan LS, et al. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. PLoS One. 2011;6(8):e23021.
   PubMed Web of Science ®Google Scholar
• Sun X, Park JH, Gumerson J, et al. Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations. Proc Natl Acad Sci U S A. 2016;113(21):E2925–34.
   PubMed Web of Science ®Google Scholar
• Rao KN, Anand M, Khanna H. The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo. Biol Open. 2016;5(4):424–428.
   PubMed Web of Science ®Google Scholar
• Regnard C, Desbruyères E, Huet JC, et al. Polyglutamylation of nucleosome assembly proteins. J Biol Chem. 2000;275(21):15969–15976.
   PubMed Web of Science ®Google Scholar
• Jiang J, Wu X, Shen D, et al. Analysis of RP2 and RPGR mutations in five X-linked Chinese families with Retinitis Pigmentosa. Sci Rep. 2017;7:44465.
   PubMed Web of Science ®Google Scholar
• Song Y, Brady ST. Post-translational modifications of tubulin: pathways to functional diversity of microtubules. Trends Cell Biol. 2015;25(3):125–136.
   PubMed Web of Science ®Google Scholar
• Wright AF, Shu X. Focus on molecules: RPGR. Exp Eye Res. 2007;85(1):1–2.
   PubMed Web of Science ®Google Scholar
• Patnaik SR, Raghupathy RK, Zhang X, et al. The role of RPGR and its interacting Proteins in Ciliopathies. J Ophthalmol. 2015;2015:414781.
   PubMed Web of Science ®Google Scholar
• Natarajan K, Gadadhar S, Souphron J, et al. Molecular interactions between tubulin tails and glutamylases reveal determinants of glutamylation patterns. EMBO Rep. 2017;18(6):1013–1026.
   PubMed Web of Science ®Google Scholar
• Sergouniotis PI, Chakarova C, Murphy C, et al. Biallelic Variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014;94(5):760–769.
   PubMed Web of Science ®Google Scholar
• Bedoni N, Haer-Wigman L, Vaclavik V, et al. Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Hum Mol Genet. 2016;25(20):4546–4555.
   PubMed Web of Science ®Google Scholar
• Shu X, Fry AM, Tulloch B, et al. RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Hum Mol Genet. 2005;14(9):1183–1197.
   PubMed Web of Science ®Google Scholar
• Pawlyk BS, Bulgakov OV, Sun X, et al. Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa. Gene Ther. 2015;23(2):196–204.
   PubMed Web of Science ®Google Scholar
• Khanna H. More Than Meets the Eye: current Understanding of RPGR Function. Adv Exp Med Biol. 2018;1074:521–538.
   PubMed Web of Science ®Google Scholar
• Patrício MI, Barnard AR, Orlans HO, et al. Inclusion of the woodchuck hepatitis virus posttranscriptional regulatory element enhances AAV2-Driven transduction of mouse and human retina. Mol Ther Nucleic Acids. 2017;6:198–208.
   PubMedGoogle Scholar
• Fischer MD, McClements ME, Martinez-Fernandez de la Camara C, et al. Codon-optimized RPGR improves stability and efficacy of AAV8 Gene therapy in two mouse models of x-linked retinitis pigmentosa. Mol Ther. 2017;25(8):1854–1865.
   PubMed Web of Science ®Google Scholar
• Beltran WA, Cideciyan AV, Boye SE, et al. Optimization of retinal gene therapy for X-linked retinitis pigmentosa due to RPGR mutations. Mol Ther. 2017;25(8):1866–1880.
   PubMed Web of Science ®Google Scholar
• Song C, Conlon TJ, Deng W-T, et al. Toxicology and pharmacology of an AAV vector expressing codon-optimized RPGR in RPGR-deficient Rd9 mice. Hum Gene Ther Clin Dev. 2018;29(4):188–197.
   PubMed Web of Science ®Google Scholar
• Balaggan KS, Duran Y, Georgiadis A, et al. Absence of ocular malignant transformation after sub-retinal delivery of rAAV2/2 or integrating lentiviral vectors in p53-deficient mice. Gene Ther. 2012;19(2):182–188.
   PubMed Web of Science ®Google Scholar
• Vandenberghe LH, Bell P, Maguire AM, et al. Dosage thresholds for AAV2 and AAV8 photoreceptor gene therapy in monkey. Sci Transl Med. 2011;3(88):88ra54.
   PubMed Web of Science ®Google Scholar
• Natkunarajah M, Trittibach P, McIntosh J, et al. Assessment of ocular transduction using single-stranded and self-complementary recombinant adeno-associated virus serotype 2/8. Gene Ther. 2008;15(6):463–467.
   PubMed Web of Science ®Google Scholar
• Boye SE, Alexander JJ, Boye SL, et al. The human rhodopsin kinase promoter in an AAV5 vector confers rod- and cone-specific expression in the primate retina. Hum Gene Ther. 2012;23(10):1101–1115.
   PubMed Web of Science ®Google Scholar
• Ye G-J, Budzynski E, Sonnentag P, et al. Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. Hum Gene Ther Clin Dev. 2016;27(1):37–48.
   PubMed Web of Science ®Google Scholar
• Cremers FPM, Boon C, Bujakowska K, et al. Special issue introduction: inherited retinal disease: novel candidate genes, genotype-phenotype correlations, and inheritance models. Genes (Basel). 2018;9(4):215.
   Web of Science ®Google Scholar