CRISPR-induced deletion with SaCas9 restores dystrophin expression in dystrophic models in vitro and in vivo.
作者： Benjamin L. Duchêne , Khadija Cherif , Jean-Paul Iyombe-Engembe , Antoine Guyon , Joel Rousseau
DOI: 10.1101/378331
关键词:
摘要: Duchenne Muscular Dystrophy (DMD), a severe hereditary disease, affecting 1 boy out of 3500, mainly results from the deletion one or more exons leading to reading frame shift DMD gene that abrogates dystrophin protein synthesis. We used Cas9 Staphylococcus aureus (SaCas9) edit human gene. Pairs sgRNAs were meticulously chosen induce genomic not only restore but also produced with normally phased spectrin-like repeats. The formation repeats is usually obtained by skipping complete exons. This can however be in rare instances where exon/intron borders beginning and end (patient plus CRISPR-induced are at similar positions repeat. pairs sgRNAs, targeting 47 58 normal was restored 67 86% resulting hybrid myoblasts derived muscle biopsies 4 patients different exon deletions. restoration expression vivo heart del52hDMD/mdx. Our provide proof-of-principle SaCas9 could considered for further development therapy DMD.
sci-hub.st 参考文章(59)
Pierre Chapdelaine, Karine Vignola, Michel A. Fortier, Protein estimation directly from SDS-PAGE loading buffer for standardization of samples from cell lysates or tissue homogenates before Western blot analysis. BioTechniques. ,vol. 31, pp. 478- 482 ,(2001) , 10.2144/01313BM04
Julian Ramos, Jeffrey S Chamberlain, Gene therapy for Duchenne muscular dystrophy Expert opinion on orphan drugs. ,vol. 3, pp. 1255- 1266 ,(2015) , 10.1517/21678707.2015.1088780
Yongping Yue, Xiufang Pan, Chady H. Hakim, Kasun Kodippili, Keqing Zhang, Jin-Hong Shin, Hsiao T. Yang, Thomas McDonald, Dongsheng Duan, Safe and bodywide muscle transduction in young adult Duchenne muscular dystrophy dogs with adeno-associated virus Human Molecular Genetics. ,vol. 24, pp. 5880- 5890 ,(2015) , 10.1093/HMG/DDV310
Jonathan S. Stamler, Gerhard Meissner, Physiology of Nitric Oxide in Skeletal Muscle Physiological Reviews. ,vol. 81, pp. 209- 237 ,(2001) , 10.1152/PHYSREV.2001.81.1.209
Peter A. C. 't Hoen, Emile J. de Meijer, Judith M. Boer, Rolf H. A. M. Vossen, Rolf Turk, Ronald G. H. J. Maatman, Kay E. Davies, Gert-Jan B. van Ommen, Judith C. T. van Deutekom, Johan T. den Dunnen, Generation and characterization of transgenic mice with the full-length human DMD gene. Journal of Biological Chemistry. ,vol. 283, pp. 5899- 5907 ,(2008) , 10.1074/JBC.M709410200
Masahide Yazaki, Kunihiro Yoshida, Akinori Nakamura, Jun Koyama, Takashi Nanba, Nobuhira Ohori, Shu-ichi Ikeda, Clinical characteristics of aged Becker muscular dystrophy patients with onset after 30 years. European Neurology. ,vol. 42, pp. 145- 149 ,(1999) , 10.1159/000008089
Jianyi Yang, Renxiang Yan, Ambrish Roy, Dong Xu, Jonathan Poisson, Yang Zhang, The I-TASSER Suite: protein structure and function prediction Nature Methods. ,vol. 12, pp. 7- 8 ,(2015) , 10.1038/NMETH.3213
David G. Ousterout, Ami M. Kabadi, Pratiksha I. Thakore, William H. Majoros, Timothy E. Reddy, Charles A. Gersbach, Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy Nature Communications. ,vol. 6, pp. 6244- 6244 ,(2015) , 10.1038/NCOMMS7244
Yi Lai, Gail D. Thomas, Yongping Yue, Hsiao T. Yang, Dejia Li, Chun Long, Luke Judge, Brian Bostick, Jeffrey S. Chamberlain, Ronald L. Terjung, Dongsheng Duan, Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy Journal of Clinical Investigation. ,vol. 119, pp. 624- 635 ,(2009) , 10.1172/JCI36612
Catherine L. Bladen, David Salgado, Soledad Monges, Maria E. Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Anna J. Roy, Teodora Chamova, Velina Guergueltcheva, Sophelia Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lahdetie, Maggie C. Walter, Olivia Schreiber-Katz, Veronika Karcagi, Marta Garami, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, En Kimura, Zaïda Koeks, Janneke C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Anna Kostera-Pruszczyk, Janusz Zimowski, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milic Rasic, Dina Vojinovic, Manuel Posada, Clemens Bloetzer, Pierre-Yves Jeannet, Franziska Joncourt, Jordi Díaz-Manera, Eduard Gallardo, A. Ayşe Karaduman, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy V. Shatillo, Ann S. Martin, Holly L. Peay, Matthew I. Bellgard, Jan Kirschner, Kevin M. Flanigan, Volker Straub, Kate Bushby, Jan Verschuuren, Annemieke Aartsma-Rus, Christophe Béroud, Hanns Lochmüller, The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations Human Mutation. ,vol. 36, pp. 395- 402 ,(2015) , 10.1002/HUMU.22758