Figure 3 | Scientific Reports

Figure 3

From: Shaping modern human skull through epigenetic, transcriptional and post-transcriptional regulation of the RUNX2 master bone gene

Figure 3

Genomic variants in RUNX2 P2 promoter overlap with ZNF263 binding sites at CTCF-mediated loop anchor regions. (a) Motif analysis using MEME suite of the P2 proximal promoter region, containing a cluster of three nucleotide variants in AMHs compared with Denisovan/Neandertal species (chr6:45,421,398–45,421,567), identified three CCYCCCWCCTC motifs overlapping with the three genomic variants. (b) In silico analysis using Tomtom identified ZNF263 as a transcription factor binding the CCYCCCWCCTC motif. (c) Scheme of the RUNX2 locus (Chr6:45,318,000–45,670,000 GRCh38/hg38) showing the different RUNX2 isoforms and regulatory regions and available Encode data. These include: ChIP-seq tracks (fold change over control) for CTCF binding (light blue) in osteoblasts, HEK293 and K562 cell lines, ChIP-seq tracks (fold change over control) for Znf263 binding (dark blue) in HEK293 and K562, short nucleotide clinical variants ClinVar SNVs and GeneHancer regulatory elements (GH Reg Elem (DE)), including 3D chromatin loop formation.

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