Cited by 305CRISPR and Genetic EngineeringDNA Repair MechanismsAnimal Genetics and Reproduction

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Allele-Specific Chromosome Removal after Cas9 Cleavage in Human Embryos

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Zuccaro, Michael V., Xu, Jia, Mitchell, Carl, Marin, Diego, Zimmerman, Raymond, Rana, Bhavini, Weinstein, Everett, King, Rebeca T., Palmerola, Katherine L., Smith, Morgan E., Tsang, Stephen H., Goland, Robin, Jasin, Maria, Lobo, Rogerio, Treff, Nathan, Egli, Dieter·2020·Cell

DOI 10.1016/j.cell.2020.10.025

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Abstract

Correction of disease-causing mutations in human embryos holds the potential to reduce the burden of inherited genetic disorders and improve fertility treatments for couples with disease-causing mutations in lieu of embryo selection. Here, we evaluate repair outcomes of a Cas9-induced double-strand break (DSB) introduced on the paternal chromosome at the EYS locus, which carries a frameshift mutation causing blindness. We show that the most common repair outcome is microhomology-mediated end joining, which occurs during the first cell cycle in the zygote, leading to embryos with non-mosaic restoration of the reading frame. Notably, about half of the breaks remain unrepaired, resulting in an undetectable paternal allele and, after mitosis, loss of one or both chromosomal arms. Correspondingly, Cas9 off-target cleavage results in chromosomal losses and hemizygous indels because of cleavage of both alleles. These results demonstrate the ability to manipulate chromosome content and reveal significant challenges for mutation correction in human embryos.

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Vanneste, E., Voet, T., Le Caignec, C., Ampe, M., Konings, P., Melotte, C., Debrock, S., Amyere, M., Vikkula, M., Schuit, F., et al. (2009) · Nature Medicine · doi:10.1038/nm.1924 · Cited by 880
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Masset, H., Ding, J., Dimitriadou, E., Ardeshirdavani, A., Debrock, S., Tšuiko, O., Smits, K., Peeraer, K., Moreau, Y., Voet, T., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac134 · Cited by 37
CRISPR–Cas9 gene editing induced complex on-target outcomes in human cells
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Dai, X., & Guo, X. (2021) · Ageing Research Reviews · doi:10.1016/j.arr.2021.101342 · Cited by 39
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Self-citation

Authors: Zuccaro, M. V., Xu, J., Mitchell, C., Marin, D., Zimmerman, R., Rana, B., Weinstein, E., King, R. T., Palmerola, K. L., Smith, M. E., Tsang, S. H., Goland, R., Jasin, M., Lobo, R., Treff, N., & Egli, D.
Affiliations: Columbia University Irving Medical Center (US)
Genomic Prediction (United States) (US)
Columbia University (US)
Rutgers, The State University of New Jersey (US)
Memorial Sloan Kettering Cancer Center (US)
Corresponding author: Egli, Dieter
ORCID: Zuccaro, Michael V.
Xu, Jia
Mitchell, Carl
Marin, Diego
Weinstein, Everett
King, Rebeca T.
Palmerola, Katherine L.
Smith, Morgan E.
Tsang, Stephen H.
Jasin, Maria
Treff, Nathan
Egli, Dieter
Venue: Cell
Publisher: Elsevier BV
Published: 2020-12
Volume: 183
Issue: 6
Pages: 1650-1664.e15
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/j.cell.2020.10.025
OpenAlex: W3095871885
Cited by: 303
References: 46
Citations by year: 2026: 27 · 2025: 30 · 2024: 51 · 2023: 64 · 2022: 63 · 2021: 57 · 2020: 11
FWCI: 15.99
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 374 d)
Locations: Cell (publishedVersion)
bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nd)
PubMed (publishedVersion)
Funders: Irving Medical Center, Columbia University
New York Stem Cell Foundation
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Animal Genetics and Reproduction
Keywords: CRISPR/Cas9, human embryo, frameshift mutation, microhomology-mediated end joining, DNA double-strand break repair, zygote, paternal allele, chromosome loss, off-target cleavage, indels, embryo mosaicism, germline editing, inherited blindness
MeSH terms: Human Embryonic Stem Cells, Gene Editing, CRISPR-Associated Protein 9, Alleles, Animals, Base Sequence, Blastocyst, Cell Cycle, Cell Line, Chromosome Deletion, Chromosomes, Human, Embryo, Mammalian, Eye Proteins, Fertilization, Genotype, Heterozygote, Humans, Mitosis, Embryo Implantation, Gene Rearrangement, Genome, Human, Open Reading Frames, Polymorphism, Single Nucleotide, Mice, DNA Breaks, Double-Stranded, INDEL Mutation, Genetic Loci, DNA End-Joining Repair

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Allele-Specific Chromosome Removal after Cas9 Cleavage in Human Embryos

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