Selective elimination of mitochondrial mutations in the germline by genome editing

Cell

Volumn 161, Issue 3, 2015, Pages 459-469

  Reddy, Pradeep ^a   Ocampo, Alejandro ^a   Suzuki, Keiichiro ^a   Luo, Jinping ^a   Bacman, Sandra R ^b   Williams, Sion L ^b   Sugawara, Atsushi ^a   Okamura, Daiji ^a   Tsunekawa, Yuji ^c   Wu, Jun ^a   Lam, David ^a   Xiong, Xiong ^d   Montserrat, Nuria ^e   Esteban, Concepcion Rodriguez ^a   Liu, Guang Hui ^f,g,h   Sancho Martinez, Ignacio ^a   Manau, Dolors ⁱ   Civico, Salva ⁱ   Cardellach, Francesc ⁱ   Del Mar O'Callaghan, Maria ^j   Campistol, Jaime ^j   Zhao, Huimin ^d   Campistol, Josep M ⁱ   Moraes, Carlos T ^b   Izpisua Belmonte, Juan Carlos ^a   more..

^a SALK INSTITUTE FOR BIOLOGICAL STUDIES   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c RIKEN Center for Biosystems Dynamics Research   (Japan)

^d UNIVERSITY OF ILLINOIS AT URBANA CHAMPAIGN   (United States)

^e INSTITUTE FOR BIOENGINEERING OF CATALONIA IBEC   (Spain)

^f INSTITUTE OF GEOLOGY AND GEOPHYSICS   (China)

^g Center for Molecular and Translational Medicine (CMTM)   (China)

^h BEIJING INSTITUTE FOR BRAIN DISORDERS   (China)

ⁱ UNIVERSITY OF BARCELONA   (Spain)

^j CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; MITOCHONDRIAL DNA; RESTRICTION ENDONUCLEASE; ENDONUCLEASE;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EMBRYO; FEMALE; FIBROBLAST; GENOTYPE; GERMLINE MUTATION; HAPLOTYPE; HETEROPLASMY; HUMAN; HUMAN CELL; MALE; MITOCHONDRIAL DNA REPLICATION; MITOCHONDRIAL GENOME; MOUSE; NARP SYNDROME; NONHUMAN; OOCYTE; OPTIC NERVE DISEASE; OSTEOSARCOMA CELL; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; ANIMAL; ANIMAL EMBRYO; BAGG ALBINO MOUSE; CELL FUSION; GENE TARGETING; GENETICS; METABOLISM; MITOCHONDRIAL DISEASES; MUTATION; NEW ZEALAND BLACK MOUSE;

MAMMALIA; MUS; VASCONCELLEA CANDICANS;

ANIMALS; CELL FUSION; DNA, MITOCHONDRIAL; EMBRYO, MAMMALIAN; ENDONUCLEASES; FEMALE; GENE TARGETING; HUMANS; MALE; MICE; MICE, INBRED BALB C; MICE, INBRED NZB; MITOCHONDRIAL DISEASES; MUTATION; OOCYTES;

EID: 84928395483     PISSN: 00928674     EISSN: 10974172     Source Type: Journal    
DOI: 10.1016/j.cell.2015.03.051     Document Type: Article

References (33)

1. M.F. Alexeyev, N. Venediktova, V. Pastukh, I. Shokolenko, G. Bonilla, and G.L. Wilson Selective elimination of mutant mitochondrial genomes as therapeutic strategy for the treatment of NARP and MILS syndromes Gene Ther. 15 2008 516 523
2. M. Alexeyev, I. Shokolenko, G. Wilson, and S. LeDoux The maintenance of mitochondrial DNA integrity - critical analysis and update Cold Spring Harb. Perspect. Biol. 5 2013 a012641-a012641
3. S. Anderson, A.T. Bankier, B.G. Barrell, M.H. de Bruijn, A.R. Coulson, J. Drouin, I.C. Eperon, D.P. Nierlich, B.A. Roe, and F. Sanger Sequence and organization of the human mitochondrial genome Nature 290 1981 457 465
4. S.R. Bacman, S.L. Williams, S. Garcia, and C.T. Moraes Organ-specific shifts in mtDNA heteroplasmy following systemic delivery of a mitochondria-targeted restriction endonuclease Gene Ther. 17 2010 713 720
5. S.R. Bacman, S.L. Williams, D. Duan, and C.T. Moraes Manipulation of mtDNA heteroplasmy in all striated muscles of newborn mice by AAV9-mediated delivery of a mitochondria-targeted restriction endonuclease Gene Ther. 19 2012 1101 1106
6. S.R. Bacman, S.L. Williams, M. Pinto, S. Peralta, and C.T. Moraes Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs Nat. Med. 19 2013 1111 1113
7. D.T. Brown, M. Herbert, V.K. Lamb, P.F. Chinnery, R.W. Taylor, R.N. Lightowlers, L. Craven, L. Cree, J.L. Gardner, and D.M. Turnbull Transmission of mitochondrial DNA disorders: possibilities for the future Lancet 368 2006 87 89
8. P.F. Chinnery, D.R. Thorburn, D.C. Samuels, S.L. White, H.M. Dahl, D.M. Turnbull, R.N. Lightowlers, and N. Howell The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends Genet. 16 2000 500 505
9. M. Christian, T. Cermak, E.L. Doyle, C. Schmidt, F. Zhang, A. Hummel, A.J. Bogdanove, and D.F. Voytas Targeting DNA double-strand breaks with TAL effector nucleases Genetics 186 2010 757 761
10. L. Craven, H.A. Tuppen, G.D. Greggains, S.J. Harbottle, J.L. Murphy, L.M. Cree, A.P. Murdoch, P.F. Chinnery, R.W. Taylor, and R.N. Lightowlers Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease Nature 465 2010 82 85
11. L.M. Cree, D.C. Samuels, and P.F. Chinnery The inheritance of pathogenic mitochondrial DNA mutations Biochim. Biophys. Acta 1792 2009 1097 1102
12. S.D. Dyall, M.T. Brown, and P.J. Johnson Ancient invasions: from endosymbionts to organelles Science 304 2004 253 257
13. P.A. Gammage, J. Rorbach, A.I. Vincent, E.J. Rebar, and M. Minczuk Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations EMBO Mol. Med. 6 2014 458 466
14. R.H. Haas, S. Parikh, M.J. Falk, R.P. Saneto, N.I. Wolf, N. Darin, and B.H. Cohen Mitochondrial disease: a practical approach for primary care physicians Pediatrics 120 2007 1326 1333
15. E.C. Hayden Regulators weigh benefits of 'three-parent' fertilization Nature 502 2013 284 285
16. J.P. Jenuth, A.C. Peterson, K. Fu, and E.A. Shoubridge Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA Nat. Genet. 14 1996 146 151
17. A.S. Jun, M.D. Brown, and D.C. Wallace A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia Proc. Natl. Acad. Sci. USA 91 1994 6206 6210
18. P. Marc, A. Margeot, F. Devaux, C. Blugeon, M. Corral-Debrinski, and C. Jacq Genome-wide analysis of mRNAs targeted to yeast mitochondria EMBO Rep. 3 2002 159 164
19. M. Minczuk, M.A. Papworth, P. Kolasinska, M.P. Murphy, and A. Klug Sequence-specific modification of mitochondrial DNA using a chimeric zinc finger methylase Proc. Natl. Acad. Sci. USA 103 2006 19689 19694
20. M. Minczuk, M.A. Papworth, J.C. Miller, M.P. Murphy, and A. Klug Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA Nucleic Acids Res. 36 2008 3926 3938
21. D. Paull, V. Emmanuele, K.A. Weiss, N. Treff, L. Stewart, H. Hua, M. Zimmer, D.J. Kahler, R.S. Goland, and S.A. Noggle Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants Nature 493 2013 632 637
22. K. Reinhardt, D.K. Dowling, and E.H. Morrow Medicine. Mitochondrial replacement, evolution, and the clinic Science 341 2013 1345 1346
23. D.C. Rogers, E.M. Fisher, S.D. Brown, J. Peters, A.J. Hunter, and J.E. Martin Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment Mamm. Genome 8 1997 711 713
24. J.M. Ross, J.B. Stewart, E. Hagström, S. Brené, A. Mourier, G. Coppotelli, C. Freyer, M. Lagouge, B.J. Hoffer, L. Olson, and N.G. Larsson Germline mitochondrial DNA mutations aggravate ageing and can impair brain development Nature 501 2013 412 415
25. O. Russell, and D. Turnbull Mitochondrial DNA disease-molecular insights and potential routes to a cure Exp. Cell Res. 325 2014 38 43
26. N.E. Sanjana, L. Cong, Y. Zhou, M.M. Cunniff, G. Feng, and F. Zhang A transcription activator-like effector toolbox for genome engineering Nat. Protoc. 7 2012 171 192
27. E.A. Shoubridge, and T. Wai Mitochondrial DNA and the mammalian oocyte Curr. Top. Dev. Biol. 77 2007 87 111
28. M. Tachibana, P. Amato, M. Sparman, J. Woodward, D.M. Sanchis, H. Ma, N.M. Gutierrez, R. Tippner-Hedges, E. Kang, and H.-S. Lee Towards germline gene therapy of inherited mitochondrial diseases Nature 493 2013 627 631
29. R.W. Taylor, and D.M. Turnbull Mitochondrial DNA mutations in human disease Nat. Rev. Genet. 6 2005 389 402
30. G. Vogel Assisted reproduction. FDA considers trials of 'three-parent embryos' Science 343 2014 827 828
31. T. Wai, A. Ao, X. Zhang, D. Cyr, D. Dufort, and E.A. Shoubridge The role of mitochondrial DNA copy number in mammalian fertility Biol. Reprod. 83 2010 52 62
32. D.C. Wallace, and D. Chalkia Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease Cold Spring Harb. Perspect. Biol. 5 2013 a021220
33. T. Wang, H. Sha, D. Ji, H.L. Zhang, D. Chen, Y. Cao, and J. Zhu Polar body genome transfer for preventing the transmission of inherited mitochondrial diseases Cell 157 2014 1591 1604