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. Author manuscript; available in PMC: 2018 May 23.
Published in final edited form as: Cell Rep. 2018 May 1;23(5):1581–1597. doi: 10.1016/j.celrep.2018.03.129

Figure 6. Human Craniofacial Enhancers Identify Regions Important for Van Buchem Disease and Pierre Robin Sequence.

Figure 6

(A) UCSC Genome Browser shot of locus encompassing the large noncoding region flanked by MEOX1 and SOST. Region deleted in a Dutch family affected by Van Buchem disease is indicated by the black bar. Conserved regions (ERC) tested by Loots et al. (2005) are indicated above conservation tracks. Craniofacial-specific enhancer near ERC7 is indicated in orange. Additional regions annotated with strong craniofacial enhancer states but with relatively low conservation in the Van Buchem interval are indicated by purple box.

(B) UCSC Genome Browser shot of locus encompassing the large noncoding region flanked by KCNJ2 and SOX9 and associated with Pierre Robin sequence (PRS). Black bars indicate intervals altered in PRS families as previously reported by Benko et al. (2009). Region encompassing the F2 mutation is highlighted in the following panel.

(C) Enlarged view of F1 deletion region and conserved noncoding element affected by F2 mutation (HCNE-F2). Craniofacial-specific enhancer regions are indicated by orange bars. A portion of one of these regions was tested in the Vista Enhancer Browser (mm628). Inset panel shows enhancer activity of mm628 in embryonic day (E) 11.5 mouse embryos from the Vista Enhancer Browser. (See also Figures S8 and S10–S17.)