[HTML][HTML] Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders

KA Christie, DG Courtney, LA DeDionisio, CC Shern… - Scientific reports, 2017 - nature.com
KA Christie, DG Courtney, LA DeDionisio, CC Shern, S De Majumdar, LC Mairs, MA Nesbit
Scientific reports, 2017nature.com
CRISPR/Cas9 holds immense potential to treat a range of genetic disorders. Allele-specific
gene disruption induced by non-homologous end-joining (NHEJ) DNA repair offers a
potential treatment option for autosomal dominant disease. Here, we successfully delivered
a plasmid encoding S. pyogenes Cas9 and sgRNA to the corneal epithelium by intrastromal
injection and acheived long-term knockdown of a corneal epithelial reporter gene,
demonstrating gene disruption via NHEJ in vivo. In addition, we used TGFBI corneal …
Abstract
CRISPR/Cas9 holds immense potential to treat a range of genetic disorders. Allele-specific gene disruption induced by non-homologous end-joining (NHEJ) DNA repair offers a potential treatment option for autosomal dominant disease. Here, we successfully delivered a plasmid encoding S. pyogenes Cas9 and sgRNA to the corneal epithelium by intrastromal injection and acheived long-term knockdown of a corneal epithelial reporter gene, demonstrating gene disruption via NHEJ in vivo. In addition, we used TGFBI corneal dystrophies as a model of autosomal dominant disease to assess the use of CRISPR/Cas9 in two allele-specific systems, comparing cleavage using a SNP-derived PAM to a guide specific approach. In vitro, cleavage via a SNP-derived PAM was found to confer stringent allele-specific cleavage, while a guide-specific approach lacked the ability to distinguish between the wild-type and mutant alleles. The failings of the guide-specific approach highlights the necessity for meticulous guide design and assessment, as various degrees of allele-specificity are achieved depending on the guide sequence employed. A major concern for the use of CRISPR/Cas9 is its tendency to cleave DNA non-specifically at “off-target” sites. Confirmation that S. pyogenes Cas9 lacks the specificity to discriminate between alleles differing by a single base-pair regardless of the position in the guide is demonstrated.
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