Enhanced proofreading governs CRISPR-Cas9 targeting accuracy

Nature. 2017 Oct 19;550(7676):407-410. doi: 10.1038/nature24268. Epub 2017 Sep 20.

Abstract

The RNA-guided CRISPR-Cas9 nuclease from Streptococcus pyogenes (SpCas9) has been widely repurposed for genome editing. High-fidelity (SpCas9-HF1) and enhanced specificity (eSpCas9(1.1)) variants exhibit substantially reduced off-target cleavage in human cells, but the mechanism of target discrimination and the potential to further improve fidelity are unknown. Here, using single-molecule Förster resonance energy transfer experiments, we show that both SpCas9-HF1 and eSpCas9(1.1) are trapped in an inactive state when bound to mismatched targets. We find that a non-catalytic domain within Cas9, REC3, recognizes target complementarity and governs the HNH nuclease to regulate overall catalytic competence. Exploiting this observation, we design a new hyper-accurate Cas9 variant (HypaCas9) that demonstrates high genome-wide specificity without compromising on-target activity in human cells. These results offer a more comprehensive model to rationalize and modify the balance between target recognition and nuclease activation for precision genome editing.

Publication types

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

MeSH terms

  • Biotechnology / methods
  • CRISPR-Associated Proteins / chemistry*
  • CRISPR-Associated Proteins / genetics
  • CRISPR-Associated Proteins / metabolism*
  • CRISPR-Cas Systems*
  • Endonucleases / chemistry
  • Endonucleases / genetics
  • Endonucleases / metabolism
  • Enzyme Activation
  • Gene Editing / methods*
  • Genetic Variation
  • Humans
  • Mutagenesis*
  • Protein Domains
  • Streptococcus pyogenes / enzymology*
  • Streptococcus pyogenes / genetics
  • Substrate Specificity

Substances

  • CRISPR-Associated Proteins
  • Endonucleases