Gene expression in mammals is precisely regulated by the combination of promoters and gene-distal regulatory regions, known as enhancers. Several studies have suggested that some promoters might have enhancer functions. However, the extent of this type of promoters and whether they actually function to regulate the expression of distal genes have remained elusive. Here, by exploiting a high-throughput enhancer reporter assay, we unravel a set of mammalian promoters displaying enhancer activity. These promoters have distinct genomic and epigenomic features and frequently interact with other gene promoters. Extensive CRISPR-Cas9 genomic manipulation demonstrated the involvement of these promoters in the cis regulation of expression of distal genes in their natural loci. Our results have important implications for the understanding of complex gene regulation in normal development and disease.

中文翻译：

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具有远端增强子功能的哺乳动物启动子的全基因组表征。

哺乳动物中的基因表达受启动子和基因远端调控区（称为增强子）的组合精确调控。多项研究表明，某些启动子可能具有增强子功能。但是，这类启动子的范围以及它们是否真正起着调节远端基因表达的作用，目前尚不清楚。在这里，通过利用高通量的增强子报告基因检测，我们揭示了一组显示增强子活性的哺乳动物启动子。这些启动子具有独特的基因组和表观基因组特征，并经常与其他基因启动子相互作用。广泛的CRISPR-Cas9基因组操作证明了这些启动子参与了其自然基因座中远端基因表达的顺式调控。