Sequence variations affecting AU-rich element function and disease
Sequence variations affecting AU-rich element function and disease
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DOI：
10.2741/4023
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发表时间：
2012-01-01
影响因子：
3.1
通讯作者：
Khabar, Khalid S. A.
中科院分区：
文献类型：
--
作者：
Hitti, Edward;Khabar, Khalid S. A.
许多瞬时表达基因的3 'UTR中的腺苷酸-尿苷酸富集元件（战神）调节mRNA的不稳定性和翻译。这些ARE基因参与重要的生物过程，如细胞生长，分化和免疫。它们的表达缺陷导致多种疾病，如癌症、自身免疫性疾病、糖尿病、心血管疾病和慢性炎症性疾病。在过去的二十年里，在理解RNA结合蛋白、miRNA和信号通路对含有mRNA的战神的调控模式方面取得了相当大的进展。本文综述了较少记录的序列变异影响ARE功能及其与疾病的关系。我们讨论的报告描述的基因多态性，选择性多聚腺苷酸化，选择性剪接，可导致损失或获得的功能ARE，往往与疾病的重大影响。
Adenylate-uridylate rich elements (AREs) in the 3'UTRs of many transiently expressed genes regulate mRNA instability and translation. Such ARE-genes are involved in vital biological processes like cellular growth, differentiation, and immunity. Defects in their expression contribute to a variety of disease conditions like cancer, autoimmune diseases, diabetes, and cardiovascular and chronic inflammatory diseases. Over the past two decades, considerable progress has been made in understanding the mode of regulation of AREs containing mRNAs by RNA-binding proteins, miRNAs, and signaling pathways. This review focuses on the less documented sequence variation affecting ARE functions and its relation to disease. We discuss reports describing genetic polymorphisms, alternative polyadenylation, and alternative splicing that can lead to the loss or gain of function of AREs, often with significant implications to disease.