美国杜克大学医学院Anne E. West和加州大学戴维斯分校Alex S. Nord合作，综述了转录增强子的神经生物学功能。相关论文11月18日在线发表在《自然—神经科学》上。

转录增强子是调节性DNA元件，是调节基因表达特异性和动态变化的基础。在过去十年内，大规模功能基因组学研究推动了人类对增强子的认知。

这些数据有助于人们理解中枢神经系统中基因的调控机制，阐明神经生物学中非编码调控序列的功能以及将增强子中的序列变异与神经和精神疾病的遗传风险关联起来。然而，庞大数量的基因组数据和其复杂性对于理解正常和致病性神经生物学过程中增强子的功能提出了挑战。

为了促进对基因组规模增强子数据的应用，研究人员提供了当前中枢神经系统中增强子功能模型的入门书，回顾了增强子如何在整个神经元寿命中调节基因表达，并阐述了神经元中非编码序列功能的最新研究，这些为理解脑部疾病和研发神经科学新技术提供了基础。

附：英文原文

Title: Neurobiological functions of transcriptional enhancers

Author: Alex S. Nord, Anne E. West

Issue&Volume: 2019-11-18

Abstract: Transcriptional enhancers are regulatory DNA elements that underlie the specificity and dynamic patterns of gene expression. Over the past decade, large-scale functional genomics projects have driven transformative progress in our understanding of enhancers. These data have relevance for identifying mechanisms of gene regulation in the CNS, elucidating the function of non-coding regulatory sequences in neurobiology and linking sequence variation within enhancers to genetic risk for neurological and psychiatric disorders. However, the sheer volume and complexity of genomic data presents a challenge to interpreting enhancer function in normal and pathogenic neurobiological processes. Here, to advance the application of genome-scale enhancer data, we offer a primer on current models of enhancer function in the CNS, we review how enhancers regulate gene expression across the neuronal lifespan, and we suggest how emerging findings regarding the role of non-coding sequence variation offer opportunities for understanding brain disorders and developing new technologies for neuroscience.

DOI: 10.1038/s41593-019-0538-5

Source: https://www.nature.com/articles/s41593-019-0538-5