España Alexandre P, Santiago-Algarra David, Pradel Lydie, Spicuglia Salvatore
Aix-Marseille Université, INSERM, TAGC, UMR 1090, 13288 Marseille, France - Équipe Labellisée Ligue Contre le Cancer, Laboratoire TAGC, INSERM U1090, Aix-Marseille Université, Parc Scientifique de Luminy, 163 avenue de Luminy, 13288 Marseille Cedex 09, France.
Biol Aujourdhui. 2017;211(4):271-280. doi: 10.1051/jbio/2018015. Epub 2018 Jun 29.
Gene expression in higher eukaryotes is regulated through the involvement of transcription start site (TSS)-proximal (promoters) and -distal (enhancers) regulatory elements. Enhancer elements play an essential role during development and cell differentiation, while genetic alterations in these elements are a major cause of human disease. Here, we discuss recent advances in high-throughput approaches to identify and characterize enhancer elements, from the well-established massively parallel reporter assays to the recent clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9-based technologies. We discuss how these approaches contribute toward a better understanding of enhancer function in normal and pathological conditions.
高等真核生物中的基因表达是通过转录起始位点（TSS）近端（启动子）和远端（增强子）调控元件的参与来调节的。增强子元件在发育和细胞分化过程中起着至关重要的作用，而这些元件的基因改变是人类疾病的主要原因。在这里，我们讨论了高通量方法在识别和表征增强子元件方面的最新进展，从成熟的大规模平行报告基因检测到最近基于成簇规律间隔短回文重复序列（CRISPR）/Cas9的技术。我们讨论了这些方法如何有助于更好地理解正常和病理条件下增强子的功能。
