Decoding enhancers using massively parallel reporter assays.
Decoding enhancers using massively parallel reporter assays.
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DOI：
10.1016/j.ygeno.2015.06.005
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发表时间：
2015-09
期刊：
影响因子：
4.4
通讯作者：
Ahituv N
中科院分区：
文献类型：
--
作者：
Inoue F;Ahituv N
增强子控制其靶基因的时间、位置和表达水平。增强子中的核苷酸变异已显示导致许多表型，包括人类疾病。虽然现在可以使用各种基因组技术以快速的方式检测到推定的增强子序列和其中的核苷酸变异，但对这些变体的功能后果的理解仍然在很大程度上是未知的。大规模平行报告基因测定（MPRA）可以通过提供测试数千个序列和其中的核苷酸变体的增强子活性增强的能力来克服这一障碍。在这里，我们描述了这项技术，并特别关注它是如何被用来获得增强子调控代码和语法的理解。
Enhancers control the timing, location and expression levels of their target genes. Nucleotide variation in enhancers has been shown to lead to numerous phenotypes, including human disease. While putative enhancer sequences and nucleotide variation within them can now be detected in a rapid manner using various genomic technologies, the understanding of the functional consequences of these variants still remains largely unknown. Massively parallel reporter assays (MPRAs) can overcome this hurdle by providing the ability to test thousands of sequences and nucleotide variants within them for enhancer activity en masse. Here, we describe this technology and specifically focus on how it is being used to obtain an increased understanding of enhancer regulatory code and grammar.