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. Author manuscript; available in PMC: 2016 May 21.
Published in final edited form as: Cell. 2015 May 7;161(5):1012–1025. doi: 10.1016/j.cell.2015.04.004

Figure 7. A model for pathogenicity of structural variations.

Figure 7

Wild-type conformation shows the structure of two adjacent TADs. The activity of the enhancer (E) is restricted to gene 1 (G1) located inside the TAD. The TADs are separated by a boundary element (black). The black boxes represent the rearranged regions. The box with dotted lines represents the duplicated region. In the inversion, the enhancer is moved out of TADa and placed in the vicinity of gene 2 (G2). The boundary is now on the right side of E. This results in interaction of E with G2, but prevents its original interaction with G1. In the duplication, E is placed next to the duplicated G2’ resulting in interaction and misexpression. If the deletion removes the boundary and parts of TADb (black box), E is able to interact with G1 and G2, resulting in misexpression of G2. If the deletion leaves the boundary intact (DeletionS, black box), the TAD structure remains intact and E interacts only with G1.