Figure 1.

Human Cranial Neural Crest-Specific Enhancers Are Associated with PRS Patient Mutations

(A) ChIP-seq and ATAC-seq for hESCs (top) and P4 hCNCCs (bottom) at the human SOX9 locus. Three putative hCNCC-specific ECs overlap the PRS locus: EC1.45, EC1.35, and EC1.25. PRS patient deletions (red), translocation breakpoints (blue), topological domains (TADs) (Dixon et al., 2012), and protein-coding genes are shown. Centro, centromeric; telo, telomeric.

(B) Capture-C from the SOX9 promoter (see anchor) in hESCs, neuroectodermal spheres (NECs), early (day 11) and late (P4) hCNCCs.

See also Figures S1 and S2.