HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

(Downloading may take up to 30 seconds. If the slide opens in your browser, select File -> Save As to save it.)

Click on image to view larger version.

Figure 1.
Figure 1.

Twist1 craniofacial enhancers in the Hdac9-Twist1 locus. (A) A scheme of the Hdac9-Twist1 locus. Blue lines represent Twist1 exons and black lines represent Hdac9 exons. Red ovals represent positive enhancer sequences in zebrafish enhancer assay. Blue arrowheads represent the directionality of CTCF-bound sites in E11.5 limb buds (Andrey et al. 2017). (B) UMI-4C interaction profile (based on two biological replicates) using the Twist1 promoter as a viewpoint in the branchial arches of mouse E11.5 embryos. (C) Activity pattern of Twist1 craniofacial enhancer in zebrafish. As zebrafish has seven branchial arches (BA1–7), yellow dashed lines show the GFP expression patterns in the branchial arches of zebrafish embryos at 72 hpf.

This Article

  1. Published in Advance June 16, 2022, doi: 10.1101/gr.276196.121 Genome Res. 32: 1242-1253

Preprint Server



Current Issue

  1. January 2026, 36 (1)
  1. Current Issue
  1. Alert me to new issues of Genome Research