Institut de génétique moléculaire de Montpellier, université de Montpellier, CNRS, Montpellier, France Laboratory of Excellence GR-Ex, université de Paris, France
Enhancers are central elements in the control of mammalian gene expression. They are frequently altered in haematological disorders. However, their distal locations within the non-coding genome and their complex modes of actions complicate their functional analysis. This review aims to provide an update on enhancer activity in normal and pathological situations, with a special focus on the three-dimensional (3D) organisation of the genome. Pathological alterations of spatial genome organisation will be discussed with the goal of providing a framework for better understanding complex genome alterations in human disease.