Sheep models of F508del and G542X cystic fibrosis mutations show cellular responses to human therapeutics.

ABSTRACT: Cystic Fibrosis (CF) is a genetic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The F508del and G542X are the most common mutations found in US patients, accounting for 86.4% and 4.6% of all mutations, respectively. The F508del causes deletion of the phenylalanine residue at position 508 and is associated with impaired CFTR protein folding. The G542X is a nonsense mutation that introduces a stop codon into the mRNA, thus preventing normal CFTR protein synthesis. Here, we describe the generation of CFTR^{F508del / F508del} and CFTR^{G542X / G542X} lambs using CRISPR/Cas9 and somatic cell nuclear transfer (SCNT). First, we introduced either F508del or G542X

SUBMITTER: Viotti Perisse I 

PROVIDER: S-EPMC8493969 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature