Transposable elements as genome regulators in normal and malignant haematopoiesis

Abstract 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...

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Main Authors: Dmitry Prokopov, Hale Tunbak, Eve Leddy, Bryce Drylie, Francesco Camera, Özgen Deniz
Format: Article
Language:English
Published: Nature Publishing Group 2025-05-01
Series:Blood Cancer Journal
Online Access:https://doi.org/10.1038/s41408-025-01295-9
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author Dmitry Prokopov
Hale Tunbak
Eve Leddy
Bryce Drylie
Francesco Camera
Özgen Deniz
author_facet Dmitry Prokopov
Hale Tunbak
Eve Leddy
Bryce Drylie
Francesco Camera
Özgen Deniz
author_sort Dmitry Prokopov
collection DOAJ
description Abstract 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.
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id doaj-art-1db581097a434b3d9da4a36e4e9909f4
institution OA Journals
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publishDate 2025-05-01
publisher Nature Publishing Group
record_format Article
series Blood Cancer Journal
spelling doaj-art-1db581097a434b3d9da4a36e4e9909f42025-08-20T01:49:46ZengNature Publishing GroupBlood Cancer Journal2044-53852025-05-0115111210.1038/s41408-025-01295-9Transposable elements as genome regulators in normal and malignant haematopoiesisDmitry Prokopov0Hale Tunbak1Eve Leddy2Bryce Drylie3Francesco Camera4Özgen Deniz5Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of LondonCentre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of LondonCentre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of LondonCentre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of LondonCentre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of LondonCentre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of LondonAbstract 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.https://doi.org/10.1038/s41408-025-01295-9
spellingShingle Dmitry Prokopov
Hale Tunbak
Eve Leddy
Bryce Drylie
Francesco Camera
Özgen Deniz
Transposable elements as genome regulators in normal and malignant haematopoiesis
Blood Cancer Journal
title Transposable elements as genome regulators in normal and malignant haematopoiesis
title_full Transposable elements as genome regulators in normal and malignant haematopoiesis
title_fullStr Transposable elements as genome regulators in normal and malignant haematopoiesis
title_full_unstemmed Transposable elements as genome regulators in normal and malignant haematopoiesis
title_short Transposable elements as genome regulators in normal and malignant haematopoiesis
title_sort transposable elements as genome regulators in normal and malignant haematopoiesis
url https://doi.org/10.1038/s41408-025-01295-9
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