Clustered regularly interspersed short palindromic repeats/Cas9 gene editing and its research progress in ophthalmology_Chinese Journal of Ocular Fundus Diseases

Authors：

DingYuzhi , HuZizhong , YuanSongtao ,  LiuQinghuai

Department of Ophthalmology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China;

Corresponding author：

LiuQinghuai, Email: liuqh@njmu.edu.cn

Keywords：

Gene targeting; Gene therapy; Review

DOI：

10.3760/cma.j.issn.1005-1015-2016.06.026

Video：

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Clustered regularly interspersed short palindromic repeats/Cas system is a powerful genome-editing tool for efficient and precise genome engineering both in vitro and in vivo, with the advantages of easy, convenient and low cost. This technology makes it possible to simultaneously mutate multiple genes in a single fertilized egg, thus to study the gene expression, genetic interaction and gene function. Even though this method is still in its immature stage and its stability is inconclusive, making precision models of ocular diseases through genome editing may provide a positive effect to explore gene targeted therapy in genetic eye disease.

Citation： DingYuzhi, HuZizhong, YuanSongtao, LiuQinghuai. Clustered regularly interspersed short palindromic repeats/Cas9 gene editing and its research progress in ophthalmology. Chinese Journal of Ocular Fundus Diseases, 2016, 32(6): 654-657. doi: 10.3760/cma.j.issn.1005-1015-2016.06.026 Copy

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1. Shimizu E, Tang YP, Rampon C, et al. NMDA receptor-dependent synaptic reinforcement as a crucial process for memory consolidation[J]. Science, 2000, 290(5494):1170-1174.
2. Cui X, Ji D, Fisher DA, et al. Targeted integration in rat and mouse embryos with zinc-finger nucleases[J]. Nat Biotechnol, 2011, 29(1):64-67. DOI:10.1038/nbt. 1731.
3. Cermak T, Starker CG, Voytas DF. Efficient design and assembly of custom TALENs using the golden gate platform[J]. Methods Mol Biol, 2015, 1239:133-159. DOI:10.1007/978-1-4939-1862-1_7.
4. Cong L, Ran FA, Cox D, et al. Multiplex genome engineering using CRISPR/Cas systems[J]. Science, 2013, 339(6121):819-823. DOI:10.1126/science.1231143.
5. Tucker BA, Mullins RF, Stone EM. Stem cells for investigation and treatment of inherited retinal disease[J]. Hum Mol Genet, 2014, 23:9-16.DOI:10.1093/hmg/ddu124.
6. Deveau H, Garneau JE, Moineau S. CRISPR/Cas system and its role in phage-bacteria interactions[J]. Annu Rev Microbiol, 2010, 64:475-493. DOI:10.1146/annurev. Micro. 112408.134123.
7. Deltcheva E, Chylinski K, Sharma CM, et al. CRISPR RNA maturation by trans-encoded small RNA and host factor RNase Ⅲ[J]. Nature, 2011, 471(7340):602-607. DOI:10.1038/nature09886.
8. Haurwitz RE, Jinek M, Wiedenheft B, et al. Sequence-and structure-specific RNA processing by a CRISPR endonuclease[J]. Science, 2010, 329(5997):1355-1358. DOI:10.1126/science.1192272.
9. Gasiunas G, Barrangou R, Horvath P, et al. Cas9-crRNA ribonucleoprotein complex mediates specific DNA cleavage for adaptive immunity in bacteria[J]. Proc Natl Acad Sci USA, 2012, 109(39):2579-2586.
10. Jinek M, Chylinski K, Fonfara I, et al. A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity[J]. Science, 2012, 337(6096):816-821. DOI:10.1126/science.1225829.
11. Mei Y, Wang Y, Chen H, et al. Recent progress in CRISPR/Cas9 technology[J]. J Genet Genomics, 2016, 43(2):63-75. DOI:10.1016/j.jgg.2016.01.001.
12. Ebina H, Misawa N, Kanemura Y, et al. Harnessing the CRISPR/Cas9 system to disrupt latent HIV-1 provirus[J]. Sci Rep, 2013, 3:2510. DOI:10.1038/srep02510.
13. Ota S, Hisano Y, Ikawa Y, et al. Multiple genome modifications by the CRISPR/Cas9 system in zebrafish[J]. Genes Cells, 2014, 19(7):555-564. DOI:10.1111/gtc.12154.
14. Chrispell JD, Rebrik TI, Weiss ER. Electroretinogram analysis of the visual response in zebrafish larvae[J/OL]. J Vis Exp, 2015(97):52662[2015-05-16]. http://dx.doi.org/10.3791/52662.DOI:10.3791/52662" target="_blank">10.3791/52662">http://dx.doi.org/10.3791/52662.DOI:10.3791/52662.
15. Parikh BA, Beckman DL, Patel SJ, et al. Detailed phenotypic and molecular analyses of genetically modified mice generated by CRISPR-Cas9-mediated editing[J/OL]. PLoS One, 2015, 10(1):0116484[2015-01-14].http://dx.doi.org/10.1371/journal.pone.0116484.DOI:10.1371/journal.pone.0116484" target="_blank">10.1371/journal.pone.0116484">http://dx.doi.org/10.1371/journal.pone.0116484.DOI:10.1371/journal.pone.0116484.
16. Wang S, Sengel C, Emerson MM, et al. A gene regulatory network controls the binary fate decision of rod and bipolar cells in the vertebrate retina[J]. Dev Cell, 2014, 30(5):513-527. DOI:10.1016/j.devcel.2014.07.018.
17. Hung SS, Chrysostomou V, Li F, et al. AAV-mediated CRISPR/Cas gene editing of retinal cells in vivo[J]. Invest Ophthalmol Vis Sci, 2016, 57(7):3470-3476. DOI:10.1167/iovs.16-19316.
18. Bakondi B, Lv W, Lu B, et al. In vivo CRISPR/Cas9 gene editing corrects retinal dystrophy in the S334ter-3 rat model of autosomal dominant retinitis pigmentosa[J]. Mol Ther, 2016, 24(3):556-563. DOI:10.1038/mt.2015.220.
19. Hong SG, Kim MK, Jang G, et al. Generation of red fluorescent protein transgenic dogs[J]. Genesis, 2009, 47(5):314-322. DOI:10.1002/dvg.20504.
20. Wu Y, Liang D, Wang Y, et al. Correction of a genetic disease in mouse via use of CRISPR-Cas9[J]. Cell Stem Cell, 2013, 13(6):659-662. DOI:10.1016/j.stem. 2013. 10.016.
21. Maguire CA, Ramirez SH, Merkel SF, et al. Gene therapy for the nervous system:challenges and new strategies[J]. Neurotherapeutics, 2014, 11(4):817-839. DOI:10.1007/s13311-014-0299-5.
22. Trapani I, Toriello E, de Simone S, et al. Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease[J]. Hum Mol Genet, 2015, 24(23):6811-625. DOI:10.1093/hmg/ddv386.
23. Thompson DA, Ali RR, Banin E, et al. Advancing therapeutic strategies for inherited retinal degeneration:recommendations from the monaciano symposium[J]. Invest Ophthalmol Vis Sci, 2015, 56(2):918-931. DOI:10.1167/iovs.14-16049.
24. Daiger SP, Bowne SJ, Sullivan LS. Genes and mutations causing autosomal dominant retinitis pigmentosa[J/OL]. Cold Spring Harb Perspect Med, 2014, 5(10):a017129[2014-10-10].https://www.researchgate.net/publication/266747559_Genes_and_Mutations_Causing_Autosomal_Dominant_Retinitis_Pigmentosa. DOI:10.1101/cshperspect. a017129.
25. Takahashi K, Tanabe K, Ohnuki M, et al.Induction of pluripotent stem cells from adult human fibroblasts by defined factors[J].Cell, 2007, 131(5):861-872.
26. Mohamadnejad M, Swenson ES. Induced pluripotent cells mimicking human embryonic stem cells[J]. Arch Iran Med, 2008, 11(1):125-128.
27. Park IH, Zhao R, West JA, et al. Reprogramming of human somatic cells to pluripotency with defined factors[J]. Nature, 2008, 451(7175):141-146.
28. Ding Q, Regan SN, Xia Y, et al. Enhanced efficiency of human pluripotent stem cell genome editing through replacing TALENs with CRISPRs[J]. Cell Stem Cell, 2013, 12(4):393-394. DOI:10.1016/j.stem.2013.03.006.
29. Liu GH, Suzuki K, Qu J, et al. Targeted gene correction of laminopathy-associated LMNA mutations in patient-specific iPSCs[J]. Cell Stem Cell, 2011, 8(6):688-694. DOI:10.1016/j.stem.2011.04.019.
30. Wang Y, Zheng CG, Jiang Y, et al. Genetic correction of beta-thalassemia patient-specific iPS cells and its use in improving hemoglobin production in irradiated SCID mice[J]. Cell Res, 2012, 22(4):637-648. DOI:10.1038/cr.2012.23.
31. Zheng A, Li Y, Tsang SH. Personalized therapeutic strategies for patients with retinitis pigmentosa[J]. Expert Opin Biol Ther, 2015, 15(3):391-402. DOI:10.1517/14712598.2015.1006192.
32. Smith C, Abalde-Atristain L, He C, et al. Efficient and allele-specific genome editing of disease loci in human iPSCs[J]. Mol Ther, 2015, 23(3):570-577. DOI:10.1038/mt.2014.226.
33. Slaymaker IM, Gao L, Zetsche B, et al. Rationally engineered Cas9 nucleases with improved specificity[J]. Science, 2016, 351(6268):84-88. DOI:10.1126/science. aad5227.
34. Kleinstiver BP, Pattanayak V, Prew MS, et al. High-fidelity CRISPR-Cas9 nucleases with no detectable genome-wide offtarget effects[J]. Nature, 2016, 529(7587):490-495. DOI:10.1038/nature16526.
35. Zarzeczny A, Scott C, Hyun I, et al. iPS cells:mapping the policy issues[J]. Cell, 2009, 139(6):1032-1037. DOI:10.1016/j.cell.2009.11.039.

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Clustered regularly interspersed short palindromic repeats/Cas9 gene editing and its research progress in ophthalmology

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