Prokopov Dmitry, Tunbak Hale, Leddy Eve, Drylie Bryce, Camera Francesco, Deniz Özgen
Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK.
QMUL Centre for Epigenetics, Queen Mary University of London, London, UK.
Blood Cancer J. 2025 May 6;15(1):87. doi: 10.1038/s41408-025-01295-9.
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）构成了人类基因组的一半以上，并在基因组进化中发挥了深远作用。虽然大多数转座元件已失去转座能力，但许多仍保留着作为基因组创新驱动力的功能元件，包括新基因和调控元件的出现。实验和生物信息学方法的最新进展为它们在人类生物学（包括健康和疾病）中的作用提供了新的见解。在本综述中，我们讨论了转座元件在造血过程中的多方面作用，强调了它们在正常和病理情况下的贡献。转座元件通过重塑基因调控网络、调节转录活性和创造新的调控元件来影响基因调控。这些活动在维持正常造血过程和支持细胞再生中起关键作用。然而，在血液系统恶性肿瘤中，转座元件的重新激活会破坏基因组完整性，诱导结构变异，并使转录程序失调，从而驱动肿瘤发生。通过研究转座元件活性对基因组调控和变异的影响，我们强调了它们在正常造血过程和血液系统癌症中的关键作用。
