Nature biotechnology, 2018-10, Vol.36 (9), p.839-842
2018
Details
- Autor(en) / Beteiligte
- Titel
- Cas9-mediated allelic exchange repairs compound heterozygous recessive mutations in mice
- Ist Teil von
- Nature biotechnology, 2018-10, Vol.36 (9), p.839-842
- Ort / Verlag
- United States: Nature Publishing Group
- Erscheinungsjahr
- 2018
- Link zum Volltext
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1087-0156eISSN: 1546-1696DOI: 10.1038/nbt.4219Titel-ID: cdi_pubmed_primary_30102296
- Format
- –
- Schlagworte
- Alleles, Allelomorphism, Animal models, Animals, CRISPR-Associated Protein 9, Deoxyribonucleic acid, Dependovirus - genetics, DNA, Exchanging, Gene Editing, Gene mutation, Gene mutations, Genes, Genes, Recessive, Genetic disorders, Genetic engineering, Genetic Vectors, Genomes, Genomics, Genotypes, Heterozygote, Maintenance, Methods, Mice, Mucopolysaccharidoses, Mucopolysaccharidosis, Mutation, Phenotypes, Ribonucleic acid, RNA