BEON: A Functional Fluorescence Reporter for Quantification and Enrichment of Adenine Base-Editing Activity

Mol Ther. 2020 Jul 8;28(7):1696-1705. doi: 10.1016/j.ymthe.2020.04.009. Epub 2020 Apr 16.

Abstract

Adenine base editor (ABE) is a new generation of genome-editing technology through fusion of Cas9 nickase with an evolved E. coli TadA (TadA∗) and holds great promise as novel genome-editing therapeutics for treating genetic disorders. ABEs can directly convert A-T to G-C in specific genomic DNA targets without introducing double-strand breaks (DSBs). We recently showed that computer program-assisted analysis of Sanger sequencing traces can be used as a low-cost and rapid alternative of deep sequencing to assess base-editing outcomes. Here we developed a rapid fluorescence-based reporter assay (Base Editing ON [BEON]) to quantify ABE efficiency. The assay relies on the restoration of the downstream green fluorescent protein (GFP) in ABE-mediated editing of a stop codon located within the guide RNA (gRNA). We showed that this assay can be used to screen for effective ABE variants, characterize the protospacer adjacent motif (PAM) requirement of a novel NNG-targeting ABE based on ScCas9, and enrich for edited cells. Finally, we demonstrated that the reporter assay allowed us to assess the feasibility of ABE editing to correct point mutations associated with dysferlinopathy. Taken together, the BEON assay would facilitate and simplify the studies with ABEs.

Keywords: ABE; CRISPR; adenine base editor; base editing; genome editing; reporter.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine / metabolism*
  • Adenosine Deaminase / genetics*
  • Adenosine Deaminase / metabolism
  • CRISPR-Associated Protein 9 / genetics*
  • CRISPR-Associated Protein 9 / metabolism
  • Cell Line
  • Codon, Terminator
  • Escherichia coli Proteins / genetics*
  • Escherichia coli Proteins / metabolism
  • Gene Editing
  • Genes, Reporter
  • Green Fluorescent Proteins / genetics
  • Green Fluorescent Proteins / metabolism*
  • HEK293 Cells
  • Humans
  • RNA, Guide, CRISPR-Cas Systems / genetics
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / metabolism
  • Transfection

Substances

  • Codon, Terminator
  • Escherichia coli Proteins
  • RNA, Guide, CRISPR-Cas Systems
  • Recombinant Fusion Proteins
  • Green Fluorescent Proteins
  • CRISPR-Associated Protein 9
  • Adenosine Deaminase
  • TadA protein, E coli
  • Adenine