Figure 2

Long distance interactions of human chromosome 7 connect sequences syntenic to the most proximal 17.9 Mb of marmoset chromosome 2 and cluster in regions rich in SDs, Alu repeats and G4 motifs. A-C) Circos plots showing the patterns of long distance interactions (green bundles) in relation to SDs (following the colouring scheme of Figure 1) within the three segments of human chromosome 7 affected by the pericentric and paracentric inversions (as highlighted in blue in the idiogram of Figure 1); (A) before and (B) after in silico reversion of the paracentric inversion and (C) after reverting the pericentric inversion. The partial red and blue shading of the idiogram in A and B indicates the genomic interval inverted by the paracentric and pericentric inversion, respectively. D) distribution of SDs, long distance interactions (LDIs), G4 motifs and Alu repeats across human (Hs) chromosome 7 (100 kb bins) and its relation to marmoset (Cj) chromosome 2 syntenic regions (green blocks). Pink blocks highlight sequences syntenic to regions of marmoset chromosome 8. E-G) enrichment of SDs, Alu repeats and G4 motifs within chromosome 7 segments homologous to sequences of marmoset chromosome 2 (highlighted in blue). Chromosome 7 segments (binned in 200 kb windows) are displayed in ranked order according to feature count. The red curve and red dot above each plot indicate the hypergeometric score and its minimum (mHG), respectively.