Mechanisms of the CRISPR/Cas9 system. (A) Top row:
Engineered CRISPR/Cas9 is composed of a sgRNA that contains ~20-bp crRNA (red sequence)
fused with a tracrRNA (blue sequence) and a Cas9 enzyme component (beige irregular
circle). Bottom row: sgRNA binds to the specific target DNA sequences,
and Cas9 makes a double-strand break (DSB) at 3 bp upstream of a conserved
protospacer-adjacent motif (PAM) region (highlighted in green). Cas9 requires a PAM
sequence of 5′-NGG-3′ sequence (N represents any nucleotide base). (B)
Repair mechanisms after DSB. Two DNA repair pathways—nonhomologous end-joining (NHEJ) or
homology-directed repair (HDR)— kick in after DSB. The NHEJ mechanism is further divided
into a canonical (C-NHEJ) or alternative (alt-NHEJ) pathway. C-NHEJ results in no
deletion or a small deletion; alt-NHEJ results in the large deletions. Ligase IV
inhibitor SCR7 inhibits the C-NHEJ pathway. The HDR pathway is promoted with the
presence of a donor template DNA leading to precise replacement of genomic sequences.
(C) The application of CRISPR/Cas9 in genome editing. Top
row: NHEJ after DSB results in insertion/deletion (indel) mutations; HDR
after DSB prompted by a double-stranded donor template DNA results in precise
insertion/replacement. Middle row: NHEJ results in a large deletion
(pink sequence) when 2 distant DSBs are created by CRISPR/Cas9 systems containing sgRNA1
and sgRNA2. Bottom row: CRISPR/Cas9 with a mutation in the RuvC domain
generates nick instead of DSB. DNA repair from a nick with a single-stranded donor
template is highly accurate. bp, base pair; crRNA, CRISPR RNA; sgRNA, single-guide RNA;
tracrRNA, transactivating crRNA.