Figure 4
Pathological remodelling of TADs and spatial reorganisation of chromosomes. Chromosomal changes (inversions, duplications, deletions) involved in polydactyly identified in patients, and the spatial result at the level of the affected chromosomal regions. In each case, a border of the EPHA4 locus is moved or eliminated, causing ectopic interactions between EPHA4 and surrounding TAD genes (WNT6, PAX3).