The discovery of domains of preferential interaction or Topologically Associating Domains (TADs) has provided a framework to understand the relation between enhancers and promoters within intricate regulatory landscapes. It has also enabled the conceptualization of the effect of non-coding structural variants on TADs structure and insulation and reveal new patho-mechanisms leading to disease. Here, we will review current knowledge on enhancer-promoter communication in relation to TAD structure. In particular, we will discuss how enhancer-promoter interaction dynamics is established within or outside of TADs. We will further provide an overview of how mutations affect the normal organization of the genome and how it impacts the normal ability of enhancers to induce transcription at their cognate promoters in disease. Finally, we will discuss the future directions to be explored to understand the mutual influences between 3D chromatin topology and gene regulation.

中文翻译：

---

染色质拓扑在发育和疾病中的应用。

优先相互作用域或拓扑关联域（TAD）的发现为理解复杂调控环境中增强子和启动子之间的关系提供了框架。它也使非编码结构变体对TADs结构和绝缘的影响的概念化成为可能，并揭示了导致疾病的新病理机制。在这里，我们将回顾与TAD结构有关的增强子-启动子通信的当前知识。特别是，我们将讨论如何在TAD内部或外部建立增强子与启动子的相互作用动力学。我们将进一步概述突变如何影响基因组的正常组织，以及它如何影响增强子在疾病中同源启动子上诱导转录的正常能力。最后，