Supplementary Figure 2: Conservation of the IHH locus between mouse and human.

The upper panel shows a representation of the mouse locus with positions indicated for the genes and regulatory elements investigated (blue and gray ovals). Below, ChIP–seq tracks for CTCF with corresponding motif orientation as well as ChIP–seq tracks for active enhancer elements (H3K4me1 and H3K27ac); all experiments were performed in developing limbs at E14.5 (ENCODE). The equivalent positions of human pathogenic duplications are shown at the bottom. The lower panel shows a representation of the human locus with the positions of genes and equivalent positions of the regulatory elements investigated in mouse (blue and gray ovals). Below, ChIP–seq tracks for CTCF with corresponding motif orientation as well as ChIP–seq tracks for active enhancer elements (H3K4me1 and H3K27ac); all are ENCODE data sets for osteoblasts. Note that the convergent orientation of CTCF at the locus is conserved between mouse and human, as well as the presence of active enhancers. The equivalent positions of human pathogenic duplications are shown at the bottom.