Figure 5.

The Majority of Individuals with CANVAS Encode an Ancestral Haplotype

(A) Analysis of WES data identified an ancestral haplotype surrounding RFC1 in all affected individuals confirmed to carry the (AAGGG)_exp RE.

(B) The core haplotype (blue highlight) was intersected with the linkage disequilibrium (LD) track in the UCSC browser (converted to hg18 coordinates). The three LD tracks represent the Yoruba population (top track), Europeans (middle), and Han Chinese and Japanese from Tokyo (bottom). Red areas indicate strong linkage disequilibrium. The core CANVAS haplotype spans a large LD block in Europeans, which is broken up into two LD blocks in Japanese and Chinese, suggesting an ancient origin for the CANVAS repeat expansion allele.

(C) Haplotype sharing between individuals with CANVAS was used to determine the age of the most recent common ancestor (MRCA) of the cohort.