Transposable elements as genome regulators in normal and malignant haematopoiesis

Area of Science:

• Genomics
• Molecular Biology
• Hematology

Background:

• Transposable elements (TEs) comprise over half of the human genome and are key drivers of genome evolution.
• While many TEs are inactive, functional elements contribute to novel gene and regulatory element emergence.
• Recent advancements offer new insights into TE roles in human health and disease.

Purpose of the Study:

• To review the diverse roles of transposable elements in hematopoiesis.
• To highlight TE contributions in both normal physiological and pathological conditions.
• To examine the impact of TE activity on genome regulation and variation in hematological contexts.

Main Methods:

• Review of experimental and bioinformatic studies on transposable elements.
• Analysis of TE impact on gene regulation, including networks and transcriptional activity.
• Examination of TE roles in genomic integrity, structural variations, and oncogenesis in hematological malignancies.

Main Results:

• TEs reshape gene-regulatory networks and modulate transcriptional activity, crucial for normal hematopoiesis and regeneration.
• Reactivated TEs in hematological cancers disrupt genomic integrity and drive oncogenesis.
• TEs play pivotal roles in both normal hematopoietic processes and the development of hematological cancers.

Conclusions:

• Transposable elements are critical regulators in hematopoiesis, influencing both normal function and disease pathogenesis.
• Understanding TE activity is essential for comprehending hematological cancers and developing therapeutic strategies.