Accelerated discovery and miniaturization of novel single-stranded cytidine deaminases

Nucleic Acids Res. 2024 Oct 14;52(18):11188-11202. doi: 10.1093/nar/gkae800.

Abstract

Cytidine base editors (CBEs) hold significant potential in genetic disease treatment and in breeding superior traits into animals. However, their large protein sizes limit their delivery by adeno-associated virus (AAV), given its packing capacity of <4.7 kb. To overcome this, we employed a web-based fast generic discovery (WFG) strategy, identifying several small ssDNA deaminases (Sdds) and constructing multiple Sdd-CBE 1.0 versions. SflSdd-CBE 1.0 demonstrated high C-to-T editing efficiency, comparable to AncBE4max, while SviSdd-CBE 1.0 exhibited moderate C-to-T editing efficiency with a narrow editing window (C3 to C5). Utilizing AlphaFold2, we devised a one-step miniaturization strategy, reducing the size of Sdds while preserving their efficiency. Notably, we administered AAV8 expressing PCSK9 targeted sgRNA and SflSdd-CBEs (nSaCas9) 2.0 into mice, leading to gene-editing events (with editing efficiency up to 15%) and reduced serum cholesterol levels, underscoring the potential of Sdds in gene therapy. These findings offer new single-stranded editing tools for the treatment of rare genetic diseases.

MeSH terms

  • Animals
  • CRISPR-Cas Systems
  • Cytidine Deaminase* / genetics
  • Cytidine Deaminase* / metabolism
  • DNA, Single-Stranded / genetics
  • DNA, Single-Stranded / metabolism
  • Dependovirus* / genetics
  • Gene Editing* / methods
  • Genetic Therapy / methods
  • HEK293 Cells
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Proprotein Convertase 9 / genetics
  • Proprotein Convertase 9 / metabolism
  • RNA, Guide, CRISPR-Cas Systems / genetics

Substances

  • Cytidine Deaminase
  • DNA, Single-Stranded
  • Proprotein Convertase 9
  • RNA, Guide, CRISPR-Cas Systems