Engineered IscB-ωRNA system with improved base editing efficiency for disease correction via single AAV delivery in mice

Cell Rep. 2024 Nov 26;43(11):114973. doi: 10.1016/j.celrep.2024.114973. Epub 2024 Nov 13.

Abstract

IscBs, as hypercompact ancestry proteins of Cas9 nuclease, are suitable for in vivo gene editing via single adeno-associated virus (AAV) delivery. Due to the low activity of natural IscBs in eukaryotic cells, recent studies have been focusing on improving OgeuIscB's gene editing efficiency via protein engineering. However, in vivo gene editing efficacy of IscBs for disease correction remained to be demonstrated. Here, we showed effective gene knockout and base editing in mouse embryos. To further improve IscB activity, we performed systematic engineering of IscB-associated ωRNA and identified a variant, ωRNA-v2, with enhanced gene editing efficiency. Furthermore, our study demonstrated the efficacy of an engineered IscB-ωRNA system for robust gene knockout and base editing in vivo. Single AAV delivery of IscB-derived cytosine and adenine base editors achieved disease correction in a mouse model of tyrosinemia. Therefore, our results indicated the great potential of miniature IscBs for developing single-AAV-based gene editing therapeutics.

Keywords: Adeno-associated virus; CP: Molecular biology; CRISPR ancestry nuclease; IscB-ωRNA system; RNA-guided nuclease; adenine base editing; cytosine base editing; gene editing therapy; protein engineering; transposon-encoded OMEGA system; tyrosinemia.

MeSH terms

  • Animals
  • CRISPR-Cas Systems / genetics
  • Dependovirus* / genetics
  • Disease Models, Animal
  • Gene Editing* / methods
  • Gene Transfer Techniques
  • Genetic Therapy / methods
  • HEK293 Cells
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Tyrosinemias / genetics
  • Tyrosinemias / therapy