Intron retention as a component of regulated gene expression programs.
Intron retention as a component of regulated gene expression programs.
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DOI：
10.1007/s00439-017-1791-x
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发表时间：
2017-09
期刊：
影响因子：
5.3
通讯作者：
Smith CWJ
中科院分区：
文献类型：
--
作者：
Jacob AG;Smith CWJ
内含子保留长期以来一直是受调控剪接的典范，个别事件的案例研究作为模型，为剪接控制过程提供了关键的机械见解。在植物和发芽酵母等生物中，内含子保留被认为是基因表达调控的主要机制。相比之下，在哺乳动物系统中，直到最近，内含子保留的程度和功能意义仍然被严重低估。对保留内含子的转录本进行全球检测和量化的技术挑战往往导致内含子保留被忽视或被认为是“噪音”。然而，现在，随着从高通量深度测序获得的丰富信息，结合有重点的计算和统计分析，我们能够区分各种生理和病理背景下清晰的内含子保留模式。最近的几项研究表明，内含子保留是正常发育以及应对压力和疾病时基因表达程序的中心组成部分。此外，这些研究揭示了内含子保留调节蛋白质异构体产生、RNA稳定性和翻译效率的各种方式，以及通过转录后内含子剪接快速诱导表达。在这篇综述中，我们强调了这些转录学研究的关键发现，并讨论了在功能和调控水平上内含子保留网络中普遍存在的模式的共性。
Intron retention has long been an exemplar of regulated splicing with case studies of individual events serving as models that provided key mechanistic insights into the process of splicing control. In organisms such as plants and budding yeast, intron retention is well understood as a major mechanism of gene expression regulation. In contrast, in mammalian systems, the extent and functional significance of intron retention have, until recently, remained greatly underappreciated. Technical challenges to the global detection and quantitation of transcripts with retained introns have often led to intron retention being overlooked or dismissed as “noise”. Now, however, with the wealth of information available from high-throughput deep sequencing, combined with focused computational and statistical analyses, we are able to distinguish clear intron retention patterns in various physiological and pathological contexts. Several recent studies have demonstrated intron retention as a central component of gene expression programs during normal development as well as in response to stress and disease. Furthermore, these studies revealed various ways in which intron retention regulates protein isoform production, RNA stability and translation efficiency, and rapid induction of expression via post-transcriptional splicing of retained introns. In this review, we highlight critical findings from these transcriptomic studies and discuss commonalties in the patterns prevalent in intron retention networks at the functional and regulatory levels.
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