October 23, 2019  |  

Cas9-mediated allelic exchange repairs compound heterozygous recessive mutations in mice.

Authors: Wang, Dan and Li, Jia and Song, Chun-Qing and Tran, Karen and Mou, Haiwei and Wu, Pei-Hsuan and Tai, Phillip W L and Mendonca, Craig A and Ren, Lingzhi and Wang, Blake Y and Su, Qin and Gessler, Dominic J and Zamore, Phillip D and Xue, Wen and Gao, Guangping

We report a genome-editing strategy to correct compound heterozygous mutations, a common genotype in patients with recessive genetic disorders. Adeno-associated viral vector delivery of Cas9 and guide RNA induces allelic exchange and rescues the disease phenotype in mouse models of hereditary tyrosinemia type I and mucopolysaccharidosis type I. This approach recombines non-mutated genetic information present in two heterozygous alleles into one functional allele without using donor DNA templates.

Journal: Nature biotechnology
DOI: 10.1038/nbt.4219
Year: 2018

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