FIGURE 6.

Sequence analysis of the edited MECP2 gene in heterozygous female R282X Rett syndrome cells. (A) Genome editing of the MECP2 gene in R282X cells. Shown are the WT R282 allele, AAVHSC-226 editing vector and the mutant 282X allele. Primers 1F and 3R are specific for chromosomal sequences external to the homology arms. Primers 2F and 2R are specific for linker L2. The crossover positions identified based on the presence or absence of markers in the edited genome and are depicted. (B) Observed 5′ editing outcomes. Four editing outcomes were identified at the 5′ end based on the presence or absence of specific SNPs and linkers as markers are shown. (C) Observed 3′ editing outcomes. Two editing outcomes identified at the 3′ end based on the SNPs and linker sequences as markers are shown.