Figure 1.

Alleles of 10 candidate PAS on the 16 common HTT haplotypes

A total of 418 NGG PAS were identified from the analysis of the 60 kb region of chr4 in our HD modifier GWAS data. Subsequently, the levels of mutant specificity were calculated for each PAS, revealing 10 PAS that were polymorphic in 8,543 HD subjects and also showed mutant specificity values higher than 10%. Four and six PAS are located upstream and downstream of the transcription start site of HTT, respectively. Locations of those PAM sites are relative to the HTT RefSeq, NM_002111 (vertical bars represent exons). A mutant specificity value for a PAS represents the proportion (%) of HD subjects who carry the PAM site only on the mutant HTT. We also determined the alleles of 10 PAS on the most common HTT haplotypes based on phased genotype data of HD subjects. Alleles in bold represent NGG PAM-generating alleles. Labels of gRNA represent names of gRNA that we designed based on the PAM site generated by the PAS.