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Inter-homologue repair in fertilized human eggs?

Dieter Egli, Michael V. Zuccaro, Michal Kosicki, George M. Church, Allan Bradley, Maria Jasin
doi: https://doi.org/10.1101/181255
Dieter Egli
1Department of Obstetrics and Gynecology and Department of Pediatrics, Columbia University, New York NY 10032, USA;
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  • For correspondence: de2220@cumc.columbia.edu m-jasin@ski.mskcc.org
Michael V. Zuccaro
2Graduate Program, Department of Physiology and Cellular Biophysics, Columbia University, NewYork NY 10032, USA;
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Michal Kosicki
3Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, United Kingdom;
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George M. Church
4Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA;
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Allan Bradley
3Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, United Kingdom;
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Maria Jasin
5Developmental Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA
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  • For correspondence: de2220@cumc.columbia.edu m-jasin@ski.mskcc.org
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Abstract

Many human diseases have an underlying genetic component. The development and application of methods to prevent the inheritance of damaging mutations through the human germline could have significant health benefits, and currently include preimplantation genetic diagnosis and carrier screening. Ma et al. take this a step further by attempting to remove a disease mutation from the human germline through gene editing1. They assert the following advances: (i) the correction of a pathogenic gene mutation responsible for hypertrophic cardiomyopathy in human embryos using CRISPR-Cas9 and (ii) the avoidance of mosaicism in edited embryos. In the case of correction, the authors conclude that repair using the homologous chromosome was as or more frequent than mutagenic nonhomologous end-joining (NHEJ). Their conclusion is significant, if validated, because such a “self-repair” mechanism would allow gene correction without the introduction of a repair template. While the authors’ analyses relied on the failure to detect mutant alleles, here we suggest approaches to provide direct evidence for inter-homologue recombination and discuss other events consistent with the data. We also review the biological constraints on inter-homologue recombination in the early embryo.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted August 28, 2017.
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Inter-homologue repair in fertilized human eggs?
Dieter Egli, Michael V. Zuccaro, Michal Kosicki, George M. Church, Allan Bradley, Maria Jasin
bioRxiv 181255; doi: https://doi.org/10.1101/181255
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Inter-homologue repair in fertilized human eggs?
Dieter Egli, Michael V. Zuccaro, Michal Kosicki, George M. Church, Allan Bradley, Maria Jasin
bioRxiv 181255; doi: https://doi.org/10.1101/181255

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