The faithful execution of biological processes requires a precise and carefully orchestrated set of steps that depend on the proper spatial and temporal expression of genes. Here we review the various classes of transcriptional regulatory elements (core promoters, proximal promoters, distal enhancers, silencers, insulators/boundary elements, and locus control regions) and the molecular machinery (general transcription factors, activators, and coactivators) that interacts with the regulatory elements to mediate precisely controlled patterns of gene expression. The biological importance of transcriptional regulation is highlighted by examples of how alterations in these transcriptional components can lead to disease. Finally, we discuss the methods currently used to identify transcriptional regulatory elements, and the ability of these methods to be scaled up for the purpose of annotating the entire human genome.

中文翻译：

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人类基因组中的转录调控元件。

忠实执行生物过程需要一组精确且精心安排的步骤，这些步骤取决于基因的正确时空表达。在这里，我们回顾了各种转录调控元件（核心启动子，近端启动子，远端增强子，沉默子，绝缘子/边界元件和基因座控制区）以及与分子相互作用的分子机制（一般转录因子，激活剂和共激活剂）。调节元件来介导基因表达的精确控制模式。这些转录成分的改变如何导致疾病的例子突出了转录调控的生物学重要性。最后，我们讨论了目前用于识别转录调控元件的方法，