Characterization of Epigenetic and Transcriptional Landscape in Infantile Hemangiomas with ATAC-Seq and RNA-Seq

Abstract

<b>Aim:</b> This study was conducted to reveal epigenetic landscape in infantile hemangiomas (IHs) and identify transcription factors (TFs) and their downstream genes active in IHs. <b>Materials & methods:</b> We performed Assay for Transposase Accessible Chromatin (ATAC-seq) with RNA-seq in three pairs of IHs and their adjacent normal tissues. Functions of candidate TFs were investigated in human umbilical vein endothelial cells (HUVECs). <b>Results:</b> Chromatin of IH tissues is less compact. Some candidate genes and TFs were identified. In HUVECs, SPDEF inhibited cell viability and tube formation, and promoted apoptosis; SOX4 exerted the opposite effect. SPDEF may act through <i>EPHA5</i>, <i>ZBTB46</i> and <i>SASH1</i>; SOX4 may act through <i>MMP12</i> and <i>HIVEP3</i>. <b>Conclusion:</b> Epigenetics plays a role in IHs. SPDEF and SOX4 may act in IHs.