Genetic therapy of Xeroderma Pigmentosum: analysis of strategies and translation

References

• Burns KH, Chakravarti A. Massively parallel rare disease genetics. Genome Med. 2011 May 30;3(5):29. doi: 10.1186/gm244.
   Google Scholar
• Makrythanasis P, Antonarakis SE. High-throughput sequencing and rare genetic diseases. Mol Syndromol. 2012;3:197–203.
   Google Scholar
• Dodd KM, Dunlop EA. Tuberous sclerosis—A model for tumour growth. Semin Cell Dev Biol. 2016;52:3–11.
   Google Scholar
• Lemke JR, Kernland-Lang K, Hörtnagel K, et al. Monogenic human skin disorders. Dermatology. 2014;229:55–64.
   Google Scholar
• Gache Y, Brellier F, Rouanet S, et al. Basal cell carcinoma in Gorlin’s patients: a matter of fibroblasts-led protumoral microenvironment? PLoS One. 2015;10:e0145369. Epub 2015 Dec 24.
   Google Scholar
• Cao T, Arin MJ, Roop DR. Gene therapy for inherited skin diseases. Curr Probl Dermatol. 2001;13:173–182.
   Google Scholar
• Kleijer WJ, Laugel V, Berneburg M, et al. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma Pigmentosum, Cockayne syndrome and trichothiodystrophy. DNA Repair. 2008;7:744–750. Epub 2008 Mar 11.
   Google Scholar
• Lehmann AR, McGibbon D, Stefanini M. Xeroderma Pigmentosum. Orphanet J Rare Dis. 2011;6:70.
   Google Scholar
• DiGiovanna JJ, Kraemer KH. Shining a light on Xeroderma Pigmentosum. J Invest Dermatol. 2012;132:785–796.
   Google Scholar
• Bradford PT, Goldstein AM, Tamura D, et al. Cancer and neurologic degeneration in Xeroderma Pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet. 2011;48:168–176. Epub 2010 Nov 26.
   Google Scholar
• Fassihi H, Sethi M, Fawcett H, et al. Deep phenotyping of 89 Xeroderma Pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. Proc Natl Acad Sci U S A. 2016;113:E1236–E1245. Epub 2016 Feb 18.
   Google Scholar
• Stary A, Sarasin A. The genetics of the hereditary Xeroderma Pigmentosum syndrome. Biochimie. 2002;84:49–60.
   Google Scholar
• Spivak G. Nucleotide excision repair in humans. DNA Repair. 2015;36:13–18.
   Google Scholar
• Scharer OD. Nucleotide excision repair in eukaryotes. Cold Spring Harb Perspect Biol. 2013;5:a012609. Epub 2013 Oct 3.
   Google Scholar
• Sugasawa K, Shimizu Y, Iwai S, et al. A molecular mechanism for DNA damage recognition by the Xeroderma Pigmentosum group C protein complex. DNA Repair. 2002;1:95–107. Epub 2003 Jan 2.
   Google Scholar
• Kim JK, Patel D, Choi BS. Contrasting structural impacts induced by cis-syn cyclobutane dimer and (6-4) adduct in DNA duplex decamers: implication in mutagenesis and repair activity. Photochem Photobiol. 1995;62:44–50. Epub 1995 Jul 1.
   Google Scholar
• Riedl T, Hanaoka F, Egly J. The comings and goings of nucleotide excision repair factors on damaged DNA. EMBO J. 2003;22:5293–5303.
   Google Scholar
• Mouret S, Baudouin C, Charveron M, et al. Cyclobutane pyrimidine dimers are predominant DNA lesions in whole human skin exposed to UVA radiation. Proc Natl Acad Sci U S A. 2006;103:13765–13770. Epub 2006 Sep 7.
   Google Scholar
• Scrima A, Konícková R, Czyzewski BK, et al. Structural basis of UV DNA-damage recognition by the DDB1–DDB2 complex. Cell. 2008;135:1213–1223.
   Google Scholar
• Clement FC, Camenisch U, Fei J, et al. Dynamic two-stage mechanism of versatile DNA damage recognition by Xeroderma Pigmentosum group C protein. Mutat Res. 2010;685:21–28. Epub 2009 Aug 19.
   Google Scholar
• Scrima A, Fischer ES, Lingaraju GM, et al. Detecting UV-lesions in the genome: the modular CRL4 ubiquitin ligase does it best! FEBS Lett. 2011;585:2818–2825.
   Google Scholar
• Sugasawa K, Okuda Y, Saijo M, et al. UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex. Cell. 2005;121:387–400.
   Google Scholar
• Moser J, Volker M, Kool H, et al. The UV-damaged DNA binding protein mediates efficient targeting of the nucleotide excision repair complex to UV-induced photo lesions. DNA Repair. 2005;4:571–582. Epub 2005 Apr 7.
   Google Scholar
• Sugasawa K, Okamoto T, Shimizu Y, et al. A multistep damage recognition mechanism for global genomic nucleotide excision repair. Genes Dev. 2001;15:507–521. Epub 2001 Mar 10.
   Google Scholar
• Fitch ME, Nakajima S, Yasui A, et al. In vivo recruitment of XPC to UV-induced cyclobutane pyrimidine dimers by the DDB2 gene product. J Biol Chem. 2003;278:46906–46910.
   Google Scholar
• Oh K-S, Emmert S, Tamura D, et al. Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene. J Invest Dermatol. 2011;131:785–788.
   Google Scholar
• Compe E, Egly JM. TFIIH: correction of dystrophin expression in cells from Duchenne muscular dystrophy patients through genomic excision of exon 51 by zinc finger nucleases when transcription met DNA repair. Nat Rev Mol Cell Biol. 2012;13:343–354. Epub 2012 May 11.
   Google Scholar
• Oh K-S, Khan SG, Jaspers NG, et al. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): Xeroderma Pigmentosum without and with Cockayne syndrome. Hum Mutat. 2006;27:1092–1103. Epub 2006 Sep 2.
   Google Scholar
• Lehmann AR. The Xeroderma Pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev. 2001;15:15–23.
   Google Scholar
• Tirode F, Busso D, Coin F, et al. Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7. Mol Cell. 1999;3:87–95.
   Google Scholar
• Tsodikov OV, Ivanov D, Orelli B, et al. Structural basis for the recruitment of ERCC1‐XPF to nucleotide excision repair complexes by XPA. EMBO J. 2007;26:4768–4776.
   Google Scholar
• Menck CF, Munford V. DNA repair diseases: what do they tell us about cancer and aging? Genet Mol Biol. 2014;37:220–233. Epub 2014 Apr 26.
   Google Scholar
• Rahbar Z, Naraghi M. De Sanctis–Cacchione syndrome: a case report and literature review. Int J Women’s Dermatol. 2015;1:136–139.
   Google Scholar
• Fagbemi AF, Orelli B, Schärer OD. Regulation of endonuclease activity in human nucleotide excision repair. DNA Repair. 2011;10:722–729.
   Google Scholar
• Moriwaki S, Nishigori C, Imamura S, et al. A case of Xeroderma Pigmentosum complementation group F with neurological abnormalities. Br J Dermatol. 1993;128:91–94. Epub 1993 Jan 1.
   Google Scholar
• Cheesbrough MJ, Kinmont PDC. (30) Xeroderma Pigmentosum—a unique variant with neurological involvement. Br J Dermatol. 1978;99:61.
   Google Scholar
• Knobel PA, Marti TM. Translesion DNA synthesis in the context of cancer research. Cancer Cell Int. 2011;11:39. Epub 2011 Nov 4.
   Google Scholar
• Silverstein TD, Johnson RE, Jain R, et al. Structural basis for the suppression of skin cancers by DNA polymerase eta. Nature. 2010;465:1039–1043. Epub 2010 Jun 26.
   Google Scholar
• Lehmann AR. Replication of damaged DNA by translesion synthesis in human cells. FEBS Lett. 2005;579:873–876.
   Google Scholar
• Lehmann AR. XPV polymerase and the bypass of ultraviolet DNA damage A2 - Lennarz, William J. In: Lane MD, editor. Encyclopedia of biological chemistry. Waltham (MA): Academic Press; 2013. p. 572–574.
   Google Scholar
• Norris PG, Limb GA, Hamblin AS, et al. Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses Xeroderma Pigmentosum, Cockayne’s syndrome, and trichothiodystrophy. J Invest Dermatol. 1990;94:94–100. Epub 1990 Jan 1.
   Google Scholar
• Norris PG, Limb GA, Hamblin AS, et al. Impairment of natural-killer-cell activity in Xeroderma Pigmentosum. N Engl J Med. 1988;319:1668–1669. Epub 1988 Dec 22.
   Google Scholar
• Mariani E, Facchini A, Honorati MC, et al. Immune defects in families and patients with Xeroderma Pigmentosum and trichothiodystrophy. Clin Exp Immunol. 1992;88:376–382. Epub 1992 Jun 1.
   Google Scholar
• Miyauchi-Hashimoto H, Okamoto H, Horio T, et al. Ultraviolet radiation-induced suppression of natural killer cell activity is enhanced in Xeroderma Pigmentosum group A (XPA) model mice. J Invest Dermatol. 1999;112:965–970.
   Google Scholar
• Otto AI, Riou L, Marionnet C, et al. Differential behaviors toward ultraviolet A and B radiation of fibroblasts and keratinocytes from normal and DNA-repair-deficient patients. Cancer Res. 1999;59:1212–1218. Epub 1999 Mar 30.
   Google Scholar
• Lehmann AR, Stevens S. A rapid procedure for measurement of DNA repair in human fibroblasts and for complementation analysis of Xeroderma Pigmentosum cells. Mutat Res. 1980;69:177–190. Epub 1980 Jan 1.
   Google Scholar
• Stefanini M, Keijzer W, Dalprà L, et al. Differences in the levels of UV repair and in clinical symptoms in two sibs affected by Xeroderma Pigmentosum. Hum Genet. 1980;54:177–182. Epub 1980 Jan 1.
   Google Scholar
• Limsirichaikul S, Niimi A, Fawcett H, et al. A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU). Nucleic Acids Res. 2009;37:e31–e.
   Google Scholar
• Nakazawa Y, Yamashita S, Lehmann AR, et al. A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives. DNA Repair. 2010;9:506–516. Epub 2010 Feb 23.
   Google Scholar
• Kraemer KH, Coon HG, Petinga RA, et al. Genetic heterogeneity in Xeroderma Pigmentosum: complementation groups and their relationship to DNA repair rates. Proc Natl Acad Sci U S A. 1975;72:59–63.
   Google Scholar
• Carreau M, Eveno E, Quilliet X, et al. Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes. Carcinogenesis. 1995;16:1003–1009.
   Google Scholar
• Fréchet M, Bergoglio V, Chevallier-Lagente O, et al. Complementation assays adapted for DNA repair-deficient keratinocytes. In: Henderson DS, editor. DNA repair protocols: mammalian systems. Totowa (NJ): Humana Press; 2006. p. 9–23.
   Google Scholar
• Soufir N, Ged C, Bourillon A, et al. A prevalent mutation with founder effect in Xeroderma Pigmentosum group C from North Africa. J Invest Dermatol. 2010;130:1537–1542.
   Google Scholar
• El-Harith E-HA, Pahl L, Al-Nutaifi K, et al. Diagnosis of Xeroderma Pigmentosum C by detection of the founder mutation c.1643_1644delTG (p.Val548Ala fsX25) in a Sudanese Family. J Saudi Soc Dermatol Dermatologic Surg. 2012;16:85–86.
   Google Scholar
• Hirai Y, Kodama Y, Moriwaki S, et al. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population. Mutat Res. 2006;601:171–178. Epub 2006 Aug 15.
   Google Scholar
• Cleaver JE, Feeney L, Tang JY, et al. Xeroderma Pigmentosum group C in an isolated region of Guatemala. J Invest Dermatol. 2007;127:493–496. Epub 2006 Sep 23.
   Google Scholar
• Masaki T, Ono R, Tanioka M, et al. Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma Pigmentosum variant type. J Dermatol Sci. 2008;52:144–148. Epub 2008 Aug 16.
   Google Scholar
• Cartault F, Nava C, Malbrunot A-C, et al. A new XPC gene splicing mutation has lead to the highest worldwide prevalence of Xeroderma Pigmentosum in black Mahori patients. DNA Repair. 2011;10:577–585.
   Google Scholar
• Emmert S, Ueda T, Zumsteg U, et al. Strict sun protection results in minimal skin changes in a patient with Xeroderma Pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). Exp Dermatol. 2009;18:64–68. Epub 2008 Jul 19.
   Google Scholar
• García M, Llames S, García E, et al. In vivo assessment of acute UVB responses in normal and Xeroderma Pigmentosum (XP-C) skin-humanized mouse models. Am J Pathol. 2010;177:865–872.
   Google Scholar
• Vieth R. Vitamin D supplementation, 25-hydroxyvitamin D concentrations, and safety. Am J Clin Nutr. 1999;69:842–856. Epub 1999 May 8.
   Google Scholar
• Lehmann B, Querings K, Reichrath J. Vitamin D and skin: new aspects for dermatology. Exp Dermatol. 2004;13(Suppl 4):11–15. Epub 2004 Oct 28.
   Google Scholar
• Reichrath J. Sunlight, skin cancer and vitamin D: what are the conclusions of recent findings that protection against solar ultraviolet (UV) radiation causes 25-hydroxyvitamin D deficiency in solid organ-transplant recipients, Xeroderma Pigmentosum, and other risk groups? J Steroid Biochem Mol Biol. 2007;103:664–667.
   Google Scholar
• Ashall G, Quaba AA, Hackett MEJ. Facial resurfacing in Xeroderma Pigmentosum: are we spoiling the ship for a ha’p’orth of tar? Br J Plast Surg. 1987;40:610–613.
   Google Scholar
• Tayeb T, Laure B, Sury F, et al. Facial resurfacing with split-thickness skin grafts in Xeroderma Pigmentosum variant. J Cranio-Maxillofacial Surg. 2011;39:496–498.
   Google Scholar
• Agrawal K, Veliath AJ, Mishra S, et al. Xeroderma Pigmentosum: resurfacing versus dermabrasion. Br J Plast Surg. 1992;45:311–314.
   Google Scholar
• Nelson BR, Fader DJ, Gillard M, et al. The role of dermabrasion and chemical peels in the treatment of patients with Xeroderma Pigmentosum. J Am Acad Dermatol. 1995;32:623–626.
   Google Scholar
• Iyer S, Friedli A, Bowes L, et al. Full face laser resurfacing: therapy and prophylaxis for actinic keratoses and non-melanoma skin cancer. Lasers Surg Med. 2004;34:114–119. Epub 2004 Mar 9.
   Google Scholar
• Ostertag JU, Quaedvlieg PJF, Neumann MHAM, et al. Recurrence rates and long-term follow-up after laser resurfacing as a treatment for widespread actinic keratoses in the face and on the scalp. Dermatologic Surg. 2006;32:261–267.
   Google Scholar
• Zeitouni NC, Shieh S, Oseroff AR. Laser and photodynamic therapy in the management of cutaneous malignancies. Clin Dermatol. 2001;19:328–338. Epub 2001 Aug 2.
   Google Scholar
• Wolf P, Kerl H. Originally published as volume 1, issue 8757Photodynamic therapy in patient with Xeroderma Pigmentosum. Lancet. 1991;337:1613–1614.
   Google Scholar
• Larson DM, Cunningham BB. Photodynamic therapy in a teenage girl with Xeroderma Pigmentosum type C. Pediatr Dermatol. 2012;29:373–374.
   Google Scholar
• Procianoy F, Cruz AAV, Baccega A, et al. Aggravation of eyelid and conjunctival malignancies following photodynamic therapy in DeSanctis-Cacchione syndrome. Ophthal Plast Reconstr Surg. 2006;22:498–499. Epub 2006 Nov 23.
   Google Scholar
• Kraemer KH, DiGiovanna JJ, Moshell AN, et al. Prevention of skin cancer in Xeroderma Pigmentosum with the use of oral isotretinoin. N Engl J Med. 1988;318:1633–1637. Epub 1988 Jun 23.
   Google Scholar
• Kraemer KH, DiGiovanna JJ, Peck GL. Chemoprevention of skin cancer in Xeroderma Pigmentosum. J Dermatol. 1992;19:715–718. Epub 1992 Nov 1.
   Google Scholar
• Jones E, Korzenko A, Kriegel D. Oral isotretinoin in the treatment and prevention of cutaneous squamous cell carcinoma. J Drugs Dermatol. 2004;3:498–502. Epub 2004 Nov 24.
   Google Scholar
• Khillan JS. Vitamin A/retinol and maintenance of pluripotency of stem cells. Nutrients. 2014;6:1209–1222.
   Google Scholar
• Niles RM. Recent advances in the use of vitamin A (retinoids) in the prevention and treatment of cancer1. Nutrition. 2000;16:1084–1089.
   Google Scholar
• Burrage PS, Huntington JT, Sporn MB, et al. Regulation of matrix metalloproteinase gene expression by a retinoid X receptor-specific ligand. Arthritis Rheum. 2007;56:892–904. Epub 2007 Mar 1.
   Google Scholar
• Hamouda B, Jamila Z, Najet R, et al. Topical 5-fluorouracil to treat multiple or unresectable facial squamous cell carcinomas in Xeroderma Pigmentosum. J Am Acad Dermatol. 2001;44:1054.
   Google Scholar
• Lambert WC, Lambert MW. Development of effective skin cancer treatment and prevention in Xeroderma Pigmentosum. Photochem Photobiol. 2015;91:475–483. Epub 2014 Nov 11.
   Google Scholar
• Tanaka K, Sekiguchi M, Okada Y. Restoration of ultraviolet induced unscheduled DNA synthesis of Xeroderma Pigmentosum cells by the concomitant treatment with bacteriophage T4 endonuclease V and HVJ (Sendai virus). Proc Natl Acad Sci U S A. 1975;72:4071–4075.
   Google Scholar
• Yarosh D, Klein J, O’Connor A, et al. Effect of topically applied T4 endonuclease V in liposomes on skin cancer in Xeroderma Pigmentosum: a randomised study. Lancet. 2001;357:926–929.
   Google Scholar
• Lacarrubba F, Potenza MC, Gurgone S, et al. Successful treatment and management of large superficial basal cell carcinomas with topical imiquimod 5% cream: a case series and review. J Dermatolog Treat. 2011;22:353–358. Epub 2011 Jul 26.
   Google Scholar
• Malhotra AK, Gupta S, Khaitan BK, et al. Multiple basal cell carcinomas in Xeroderma Pigmentosum treated with imiquimod 5% cream. Pediatr Dermatol. 2008;25:488–491.
   Google Scholar
• Yang J-Q, Chen X-Y, Engle MY, et al. Multiple facial basal cell carcinomas in Xeroderma Pigmentosum treated with topical imiquimod 5% cream. Dermatol Ther. 2015;28:243–247. Epub 2015 Mar 11.
   Google Scholar
• Wollman EL, Jacob F, Hayes W. Conjugation and genetic recombination in Escherichia coli K-12. Cold Spring Harb Symp Quant Biol. 1956;21:141–162.
   Google Scholar
• Watanabe T, Fukasawa T. Episome-mediated transfer of drug resistance in Enterobacteriaceae. I. Transfer of resistance factors by conjugation. J Bacteriol. 1961;81:669–678.
   Google Scholar
• Meyer R, Boch G, Shapiro J. Transposition of DNA inserted into deletions of the Tn5 kanamycin resistance element. Mol Gen Genet. 1979;171:7–13.
   Google Scholar
• Verma IM, Weitzman MD. Gene therapy: twenty-first century medicine. Annu Rev Biochem. 2005;74:711–738.
   Google Scholar
• Perez-Pinera P, Ousterout DG, Gersbach CA. Advances in targeted genome editing. Curr Opin Chem Biol. 2012;16:268–277.
   Google Scholar
• Maggio I, Gonçalves MAFV. Genome editing at the crossroads of delivery, specificity, and fidelity. Trends Biotechnol. 2015;33:280–291.
   Google Scholar
• Blaese RM, Culver KW, Miller AD, et al. T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years. Science. 1995;270:475–480. Epub 1995 Oct 20.
   Google Scholar
• Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009;360:447–458. Epub 2009 Jan 31.
   Google Scholar
• Cideciyan AV, Aleman TS, Boye SL, et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A. 2008;105:15112–15117. Epub 2008 Sep 24.
   Google Scholar
• Magnaldo T, Sarasin A. Xeroderma Pigmentosum: from symptoms and genetics to gene-based skin therapy. Cells Tissues Organs. 2004;177:189–198.
   Google Scholar
• Kraemer KH, Patronas NJ, Schiffmann R, et al. Xeroderma Pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype–phenotype relationship. Neuroscience. 2007;145:1388–1396.
   Google Scholar
• Zeng L, Quilliet X, Chevallier-Lagente O, et al. Retrovirus-mediated gene transfer corrects DNA repair defect of Xeroderma Pigmentosum cells of complementation groups A, B and C. Gene Ther. 1997;4:1077–1084. Epub 1998 Feb 12.
   Google Scholar
• Quilliet X, Chevallier-Lagente O, Eveno E, et al. Long-term complementation of DNA repair deficient human primary fibroblasts by retroviral transduction of the XPD gene. Mutat Res. 1996;364:161–169. Epub 1996 Dec 2.
   Google Scholar
• Arnaudeau-Bégard C, Brellier F, Chevallier-Lagente O, et al. Genetic correction of DNA repair-deficient/cancer-prone Xeroderma Pigmentosum group C keratinocytes. Hum Gene Ther. 2003;14:983–996. Epub 2003 Jul 19.
   Google Scholar
• Mavilio F, Pellegrini G, Ferrari S, et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med. 2006;12:1397–1402. Epub 2006 Nov 23.
   Google Scholar
• Bergoglio V, Larcher F, Chevallier-Lagente O, et al. Safe selection of genetically manipulated human primary keratinocytes with very high growth potential using CD24. Mol Ther. 2007;15:2186–2193. Epub 2007 Aug 23.
   Google Scholar
• Magnaldo T, Barrandon Y. CD24 (heat stable antigen, nectadrin), a novel keratinocyte differentiation marker, is preferentially expressed in areas of the hair follicle containing the colony-forming cells. J Cell Sci. 1996;109(Pt 13):3035–3045. Epub 1996 Dec 1.
   Google Scholar
• Barrandon Y, Green H. Three clonal types of keratinocyte with different capacities for multiplication. Proc Natl Acad Sci U S A. 1987;84:2302–2306.
   Google Scholar
• Warrick E, Garcia M, Chagnoleau C, et al. Preclinical corrective gene transfer in Xeroderma Pigmentosum human skin stem cells. Mol Ther. 2012;20:798–807. Epub 2011 Nov 10.
   Google Scholar
• Hacein-Bey-Abina S, Von Kalle C, Schmidt M, et al. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science. 2003;302:415–419.
   Google Scholar
• Marchetto MCN, Muotri AR, Burns DK, et al. Gene transduction in skin cells: preventing cancer in Xeroderma Pigmentosum mice. Proc Natl Acad Sci U S A. 2004;101:17759–17764.
   Google Scholar
• Chevalier BS, Stoddard BL. Homing endonucleases: structural and functional insight into the catalysts of intron/intein mobility. Nucleic Acids Res. 2001;29:3757–3774. Epub 2001 Sep 15.
   Google Scholar
• Smith J, Grizot S, Arnould S, et al. A combinatorial approach to create artificial homing endonucleases cleaving chosen sequences. Nucleic Acids Res. 2006;34:e149–e.
   Google Scholar
• Arnould S, Perez C, Cabaniols J-P, et al. Engineered I-CreI derivatives cleaving sequences from the human XPC gene can induce highly efficient gene correction in mammalian cells. J Mol Biol. 2007;371:49–65. Epub 2007 Jun 15.
   Google Scholar
• Redondo P, Prieto J, Muñoz IG, et al. Molecular basis of Xeroderma Pigmentosum group C DNA recognition by engineered meganucleases. Nature. 2008;456:107–111. Epub 2008 Nov 7.
   Google Scholar
• Valton J, Daboussi F, Leduc S, et al. 5ʹ-Cytosine-phosphoguanine (CpG) methylation impacts the activity of natural and engineered meganucleases. J Biol Chem. 2012;287:30139–30150. Epub 2012 Jun 29.
   Google Scholar
• Dupuy A, Valton J, Leduc S, Targeted gene therapy of Xeroderma Pigmentosum cells using meganuclease and TALEN™. PLoS One. 2013;8:e78678. Epub 2013 Nov 16.
   Google Scholar
• Valton J, Cabaniols J-P, Galetto R, et al. Efficient strategies for TALEN-mediated genome editing in mammalian cell lines. Methods. 2014;69:151–170.
   Google Scholar
• Ma D, Liu F. Genome editing and its applications in model organisms. Genomics Proteomics Bioinf. 2015;13:336–344.
   Google Scholar
• Ma N, Liao B, Zhang H, et al. Transcription activator-like effector nuclease (TALEN)-mediated gene correction in integration-free β-thalassemia induced pluripotent stem cells. J Biol Chem. 2013;288:34671–34679. Epub 2013 Oct 25.
   Google Scholar
• Osborn MJ, Starker CG, McElroy AN, et al. TALEN-based gene correction for epidermolysis bullosa. Mol Ther. 2013;21:1151–1159. Epub 2013 Apr 3.
   Google Scholar
• Ousterout DG, Kabadi AM, Thakore PI, et al. Correction of dystrophin expression in cells from Duchenne muscular dystrophy patients through genomic excision of exon 51 by zinc finger nucleases. Mol Ther. 2015;23:523–532. Epub 2014 Dec 11.
   Google Scholar
• Jinek M, Chylinski K, Fonfara I, et al. A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science. 2012;337:816–821. Epub 2012 Jun 30.
   Google Scholar
• Chang N, Sun C, Gao L, et al. Genome editing with RNA-guided Cas9 nuclease in zebrafish embryos. Cell Res. 2013;23:465–472. Epub 2013 Mar 27.
   Google Scholar
• Wang H, Yang H, Shivalila Chikdu S, et al. One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering. Cell. 2013;153:910–918.
   Google Scholar
• Bassett Andrew R, Tibbit C, Ponting Chris P, et al. Highly efficient targeted mutagenesis of drosophila with the CRISPR/Cas9 system. Cell Rep. 2013;4:220–228.
   Google Scholar
• Jinek M, East A, Cheng A, et al. RNA-programmed genome editing in human cells. eLife. 2013;2:e00471. Epub 2013 Feb 7.
   Google Scholar
• Cong L, Ran FA, Cox D, et al. Multiplex genome engineering using CRISPR/Cas systems. Science. 2013;339:819–823. Epub 2013 Jan 5.
   Google Scholar
• Schwank G, Koo B-K, Sasselli V, et al. Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients. Cell Stem Cell. 2013;13:653–658.
   Google Scholar
• Li Hongmei L, Fujimoto N, Sasakawa N, et al. Precise correction of the dystrophin gene in duchenne muscular dystrophy patient induced pluripotent stem cells by TALEN and CRISPR-Cas9. Stem Rep. 2015;4:143–154.
   Google Scholar
• Wu Y, Liang D, Wang Y, et al. Correction of a genetic disease in mouse via use of CRISPR-Cas9. Cell Stem Cell. 2013;13:659–662.
   Google Scholar
• Cho SW, Kim S, Kim Y, et al. Analysis of off-target effects of CRISPR/Cas-derived RNA-guided endonucleases and nickases. Genome Res. 2014;24:132–141. Epub 2013 Nov 21.
   Google Scholar
• Tsai SQ, Zheng Z, Nguyen NT, et al. GUIDE-seq enables genome-wide profiling of off-target cleavage by CRISPR-Cas nucleases. Nat Biotechnol. 2015;33:187–197. Epub 2014 Dec 17.
   Google Scholar
• Carreau M, Quilliet X, Eveno E, et al. Functional retroviral vector for gene therapy of Xeroderma Pigmentosum group D patients. Hum Gene Ther. 1995;6:1307–1315. Epub 1995 Oct 1.
   Google Scholar