Adenine base editing in an adult mouse model of tyrosinaemia.
作者： Chun-Qing Song , Tingting Jiang , Michelle Richter , Luke H. Rhym , Luke W. Koblan
DOI: 10.1038/S41551-019-0357-8
关键词: RNA splicing 、 RNA 、 Fumarylacetoacetate hydrolase 、 Gene 、 Subgenomic mRNA 、 Chemistry 、 Mutation 、 Messenger RNA 、 Point mutation 、 Molecular biology
摘要: In contrast to traditional CRISPR–Cas9 homology-directed repair, base editing can correct point mutations without supplying a DNA-repair template. Here we show in mouse model of tyrosinaemia that hydrodynamic tail-vein injection plasmid DNA encoding the adenine editor (ABE) and single-guide RNA (sgRNA) an A>G splice-site mutation. ABE treatment partially restored splicing, generated fumarylacetoacetate hydrolase (FAH)-positive hepatocytes liver, rescued weight loss mice. We also FAH+ liver via lipid-nanoparticle-mediated delivery chemically modified sgRNA mRNA codon-optimized displayed higher base-editing efficiency than standard ABEs. Our findings suggest be used for correction genetic diseases adult animals. Intravenous Fah gene mutation tyrosinaemia.
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