CRISPR/Cas9-mediated gene editing in human trippronuclear zygotes

CRISPR/Cas9-mediated gene editing in human trippronuclear zygotes

Received March 30, 2015 Accepted April 1, 2015 | Puping Liang, Yanwen Xu, Xiya Zhang, Chenhui Ding, Rui Huang, Zhen Zhang, Jie Lv, Xiaowei Xie, Yuxi Chen, Yujing Li, Ying Sun, Yaofu Bai, Zhou Songyang, Wenbin Ma, Canquan Zhou, Junjiu Huang
This study investigates the use of CRISPR/Cas9-mediated gene editing in human tripronuclear (3PN) zygotes to modify the β-globin gene (HBB). The researchers found that CRISPR/Cas9 could effectively cleave the HBB gene, but the efficiency of homologous recombination-directed repair (HDR) was low, and the edited embryos were mosaic. Off-target cleavage was also observed, as revealed by the T7E1 assay and whole-exome sequencing. Additionally, the endogenous delta-globin gene (HBD) competed with exogenous donor oligos as a repair template, leading to unwanted mutations. The data suggest that HDR of the HBB locus in these embryos occurred preferentially through the non-crossover HDR pathway. The study highlights the need to improve the fidelity and specificity of the CRISPR/Cas9 platform before considering clinical applications.This study investigates the use of CRISPR/Cas9-mediated gene editing in human tripronuclear (3PN) zygotes to modify the β-globin gene (HBB). The researchers found that CRISPR/Cas9 could effectively cleave the HBB gene, but the efficiency of homologous recombination-directed repair (HDR) was low, and the edited embryos were mosaic. Off-target cleavage was also observed, as revealed by the T7E1 assay and whole-exome sequencing. Additionally, the endogenous delta-globin gene (HBD) competed with exogenous donor oligos as a repair template, leading to unwanted mutations. The data suggest that HDR of the HBB locus in these embryos occurred preferentially through the non-crossover HDR pathway. The study highlights the need to improve the fidelity and specificity of the CRISPR/Cas9 platform before considering clinical applications.
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