RNA Therapeutics Institute Publications

Title

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

UMMS Affiliation

Horae Gene Therapy Center; Li Weibo Institute for Rare Diseases Research; Department of Microbiology and Physiological Systems; RNA Therapeutics Institute; Viral Vector Core; Program in Molecular Medicine; Department of Molecular, Cell and Cancer Biology

Publication Date

2018-10-01

Document Type

Article

Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Genetic Phenomena | Genetics and Genomics

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.

DOI of Published Version

10.1038/nbt.4219

Source

Nat Biotechnol. 2018 Oct;36(9):839-842. doi: 10.1038/nbt.4219. Epub 2018 Aug 13. Link to article on publisher's site

Journal/Book/Conference Title

Nature biotechnology

Related Resources

Link to Article in PubMed

PubMed ID

30102296

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