Efficient correction of a deleterious point mutation in primary horse fibroblasts with CRISPR-Cas9.

ABSTRACT: Phenotypic selection during animal domestication has resulted in unwanted incorporation of deleterious mutations. In horses, the autosomal recessive condition known as Glycogen Branching Enzyme Deficiency (GBED) is the result of one of these deleterious mutations (102C > A), in the first exon of the GBE1 gene (GBE1^102C>A). With recent advances in genome editing, this type of genetic mutation can be precisely repaired. In this study, we used the RNA-guided nuclease CRISPR-Cas9 (clustered regularly-interspaced short palindromic repeats/CRISPR-associated protein 9) to correct the GBE1^102C>A mutation in a primary fibroblast cell line derived from a high genetic merit heterozygous stallion. To correct this mutation by homologous recombination (HR), we designed a series of

SUBMITTER: Pinzon-Arteaga C 

PROVIDER: S-EPMC7198616 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature