Correction of a pathogenic gene mutation in human embryos Highly Cited Paper

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dc.contributor.authorHong Ma-
dc.contributor.authorNuria Marti-Gutierrez-
dc.contributor.authorSang-Wook Park-
dc.contributor.authorJun Wu-
dc.contributor.authorYeonmi Lee-
dc.contributor.authorKeiichiro Suzuki-
dc.contributor.authorAmy Koski-
dc.contributor.authorDongmei Ji-
dc.contributor.authorTomonari Hayama-
dc.contributor.authorRiffat Ahmed-
dc.contributor.authorHayley Darby-
dc.contributor.authorCrystal Van Dyken-
dc.contributor.authorYing Li-
dc.contributor.authorEunju Kang-
dc.contributor.authorA.-Reum Park-
dc.contributor.authorDaesik Kim-
dc.contributor.authorSang-Tae Kim-
dc.contributor.authorJianhui Gong-
dc.contributor.authorYing Gu-
dc.contributor.authorXun Xu-
dc.contributor.authorDavid Battaglia-
dc.contributor.authorSacha A. Krieg-
dc.contributor.authorDavid M. Lee-
dc.contributor.authorDiana H. Wu-
dc.contributor.authorDon P. Wolf-
dc.contributor.authorStephen B. Heitner-
dc.contributor.authorJuan Carlos Izpisua Belmonte-
dc.contributor.authorPaula Amato-
dc.contributor.authorJin-Soo Kim-
dc.contributor.authorSanjiv Kaul-
dc.contributor.authorShoukhrat Mitalipov-
dc.description.abstractGenome editing has potential for the targeted correction of germline mutations. Here we describe the correction of the heterozygous MYBPC3 mutation in human preimplantation embryos with precise CRISPR-Cas9-based targeting accuracy and high homology-directed repair efficiency by activating an endogenous, germline-specific DNA repair response. Induced double-strand breaks (DSBs) at the mutant paternal allele were predominantly repaired using the homologous wild-type maternal gene instead of a synthetic DNA template. By modulating the cell cycle stage at which the DSB was induced, we were able to avoid mosaicism in cleaving embryos and achieve a high yield of homozygous embryos carrying the wild-type MYBPC3 gene without evidence of off-target mutations. The efficiency, accuracy and safety of the approach presented suggest that it has potential to be used for the correction of heritable mutations in human embryos by complementing preimplantation genetic diagnosis. However, much remains to be considered before clinical applications, including the reproducibility of the technique with other heterozygous mutations. © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved-
dc.titleCorrection of a pathogenic gene mutation in human embryos-
dc.contributor.affiliatedAuthorSang-Wook Park-
dc.contributor.affiliatedAuthorA.-Reum Park-
dc.contributor.affiliatedAuthorSang-Tae Kim-
dc.contributor.affiliatedAuthorJin-Soo Kim-
dc.identifier.bibliographicCitationNATURE, v.548, no.7668, pp.413 - 419-
Appears in Collections:
Center for Genome Engineering(유전체 교정 연구단) > Journal Papers (저널논문)
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