Cas9-mediated allelic exchange repairs compound heterozygous recessive mutations in mice.
basic_science · Level V
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- Record sourced from PubMed, PMID 30102296.
- Also identified by DOI 10.1038/nbt.4219 and PMC identifier 6126964.
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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.
Medical subject headings
- Alleles
- CRISPR-Associated Protein 9
- Genes, Recessive
- Heterozygote
- Mutation