Cas9-mediated allelic exchange repairs compound heterozygous recessive mutations in mice
Authors
Wang, DanLi, Jia
Song, Chun-Qing
Tran, Karen
Mou, Haiwei
Tai, Phillip W. L. L
Mendonca, Craig A.
Ren, Lingzhi
Wang, Blake Y.
Su, Qin
Gessler, Dominic J.
Zamore, Phillip D.
Xue, Wen
Gao, Guangping
UMass Chan Affiliations
Department of Molecular, Cell and Cancer BiologyProgram in Molecular Medicine
Viral Vector Core
RNA Therapeutics Institute
Department of Microbiology and Physiological Systems
Li Weibo Institute for Rare Diseases Research
Horae Gene Therapy Center
Document Type
Journal ArticlePublication Date
2018-10-01Keywords
Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Phenomena
Genetics and Genomics
Metadata
Show full item recordAbstract
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.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
DOI
10.1038/nbt.4219Permanent Link to this Item
http://hdl.handle.net/20.500.14038/48844PubMed ID
30102296Related Resources
ae974a485f413a2113503eed53cd6c53
10.1038/nbt.4219