Transposable elements (TEs) constitute over half of the human genome and have played a profound role in genome evolution. While most TEs have lost the ability to transpose, many retain functional elements that serve as drivers of genome innovation, including the emergence of novel genes and regulatory elements. Recent advances in experimental and bioinformatic methods have provided new insights into their roles in human biology, both in health and disease. In this review, we discuss the multifaceted roles of TEs in haematopoiesis, highlighting their contributions to both normal and pathological contexts. TEs influence gene regulation by reshaping gene-regulatory networks, modulating transcriptional activity, and creating novel regulatory elements. These activities play key roles in maintaining normal haematopoietic processes and supporting cellular regeneration. However, in haematological malignancies, TE reactivation can disrupt genomic integrity, induce structural variations, and dysregulate transcriptional programmes, thereby driving oncogenesis. By examining the impact of TE activity on genome regulation and variation, we highlight their pivotal roles in both normal haematopoietic processes and haematological cancers.
转座元件（TEs）占人类基因组的一半以上，并在基因组进化中发挥了深远影响。尽管大多数转座元件已失去转座能力，但许多仍保留了功能性元件，作为基因组创新的驱动因素，包括新基因和调控元件的产生。近年来实验与生物信息学方法的进步，为理解转座元件在人类生理与病理状态中的作用提供了新的视角。本文综述了转座元件在造血作用中的多重功能，重点阐述其在正常生理与病理环境下的贡献。转座元件通过重塑基因调控网络、调节转录活性及创建新型调控元件等方式影响基因调控。这些活动在维持正常造血过程和支持细胞再生中发挥关键作用。然而，在血液系统恶性肿瘤中，转座元件的再激活可能破坏基因组完整性、诱发结构变异并导致转录程序失调，从而驱动肿瘤发生。通过探讨转座元件活性对基因组调控和变异的影响，我们强调其在正常造血过程及血液系统癌症中的关键作用。
Transposable elements as genome regulators in normal and malignant haematopoiesis
肿瘤(癌症)患者之家