血液由多种特殊细胞组成，所有这些细胞都共享相同的遗传信息，并最终源自相同的前体，即造血干细胞 (HSC)。这种表型的多样性是由在造血过程中逐渐获得的独特转录程序支撑的。基因表达的时空调控取决于许多因素，但其中至关重要的是 DNA 增强子序列，它结合转录因子并增加其控制下基因的转录。因此，造血作用涉及 HSC 及其后代中特定增强子库的激活，驱动共同决定形态和功能的基因组的表达。这种严格调控的过程的破坏可能会产生灾难性的后果：在造血系统恶性肿瘤中，增强子的转录控制失调会导致癌基因的错误表达，最终驱动转化。本综述试图提供对增强子及其在转录调控中的作用的基本了解，重点是正常和恶性造血。我们提供了增强子控制造血主调节因子的例子，并讨论了导致白血病和淋巴瘤中增强子失调的主要机制。版权所有 © 2023 作者。由 Wolters Kluwer Health, Inc. 代表欧洲血液学协会出版。

Blood comprises a wide array of specialized cells, all of which share the same genetic information and ultimately derive from the same precursor, the hematopoietic stem cell (HSC). This diversity of phenotypes is underpinned by unique transcriptional programs gradually acquired in the process known as hematopoiesis. Spatiotemporal regulation of gene expression depends on many factors, but critical among them are enhancers-sequences of DNA that bind transcription factors and increase transcription of genes under their control. Thus, hematopoiesis involves the activation of specific enhancer repertoires in HSCs and their progeny, driving the expression of sets of genes that collectively determine morphology and function. Disruption of this tightly regulated process can have catastrophic consequences: in hematopoietic malignancies, dysregulation of transcriptional control by enhancers leads to misexpression of oncogenes that ultimately drive transformation. This review attempts to provide a basic understanding of enhancers and their role in transcriptional regulation, with a focus on normal and malignant hematopoiesis. We present examples of enhancers controlling master regulators of hematopoiesis and discuss the main mechanisms leading to enhancer dysregulation in leukemia and lymphoma.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association.