COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa.

ABSTRACT:

Background

Epidermolysis bullosa (EB), a severe genetic disorder characterized by blister formation in skin, is caused by mutations in genes encoding dermal-epidermal junction proteins that function to hold the skin layers together. CRISPR/Cas9-induced homology-directed repair (HDR) represents a promising tool for editing causal mutations in COL17A1 in the treatment of junctional epidermolysis bullosa (JEB).

Methods

In this study, we treated primary type XVII collagen (C17)-deficient JEB keratinocytes with either Cas9 nuclease or nickase (Cas9n) ribonucleoproteins (RNP) and a single-stranded oligonucleotide (ssODN) HDR template in order to correct a causal pathogenic frameshift mutation within the COL17A1 gene.

Results

As analyzed by next-generation sequ

SUBMITTER: Petkovic I 

PROVIDER: S-EPMC9454317 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature