Fig. 2

Evolutionary rearrangements are enriched at TAD boundaries. a Distribution of evolutionary rearrangement breakpoints between human and mouse around hESC TADs. Each TAD and 50% of its adjacent sequence was subdivided into 20 bins of equal size, the breakpoints were assigned to the bins and their number summed up over the corresponding bins in all TADs. Blue color scale represents breakpoints from different fill-size thresholds. Dotted lines in gray show simulated background controls of randomly placed breakpoints. b Distribution of rearrangement breakpoints between human and: chimpanzee, cattle, opossum, and zebrafish, at 10 kb size threshold around hESC TADs. Dotted lines in gray show simulated background controls of randomly placed breakpoints. c Enrichment of breakpoints at TAD boundaries as log-odds-ratio between actual breakpoints at TAD boundaries and randomly placed breakpoints. Enrichment is shown for three different fill size thresholds (blue color scale) and TADs in hESC from [3] (top) and contact domains in human GM12878 cells from [11] (bottom), respectively. Asterisks indicate significance of the enrichment using Fisher’s exact test (*p ≤ 0.05; **p ≤ 0.01; ***p ≤ 0.001)