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Fig. 6 | Journal of Biomedical Science

Fig. 6

From: Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy

Fig. 6

Cluster 10 harbors motifs for photoreceptor-specific transcription factors and cell-type specific enhancer features. A Graph showing the enrichment of AME predicted DNA motifs in genomic sequences of cluster 10, compared to sequences in clusters 1–9. These motifs (right panel) are consensual for transcription factors involved in photoreceptor cell fate. Left panel shows the corresponding DNA motif sequences. B Regulatory network composed of transcription factors involved in the development and differentiation of rod photoreceptors. C, D Graphs representing the enrichment of NRL (C) and CRX (D) binding sites in the genomic sequences of each cluster. The analysis concerns the distribution of 605 NRL and 5304 CRX binding sites across all clusters, and bars refer to the ratio of observed versus expected number of binding sites in each cluster normalized to 1 (dashed red line). The enrichment is 11 × more NRL binding sites (pcluster10 = 9.2 × 10–180, hypergeometric test) and 2.4 × more CRX binding sites (pcluster10 = 1.9 × 10–115) in cluster 10 than expected. E Graph representing the enrichment of NRL- and CRX-regulated genes in each cluster. The analysis concerns the distribution of 718 NRL- and 1048 CRX-regulated genes across all clusters, and bars refer to the ratio of observed versus the expected number of genes in each cluster normalized to 1 (dashed red line). F Graph representing the enrichment of ROSE predicted super-enhancer (SE) covering by more than 50% the H3K9ac genomic sequences of each cluster. The analysis concerns the distribution of 268 predicted SE across all clusters, and bars refer to the observed versus expected number of SE in each cluster normalized to 1 (dashed red line). The enrichment is 5 × more SE in cluster 10 than expected (pcluster10 = 4.2 × 10–35, hypergeometric test)

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