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

ABSTRACT: 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.

SUBMITTER: Wang D 

PROVIDER: S-EPMC6126964 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature