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Cap analysis of gene expression (CAGE) and noncoding regulatory elements
Seminars in Immunopathology ( IF 9 ) Pub Date : 2021-09-01 , DOI: 10.1007/s00281-021-00886-5
Matteo Maurizio Guerrini 1 , Akiko Oguchi 2 , Akari Suzuki 1 , Yasuhiro Murakawa 2, 3
Affiliation  

Cap analysis of gene expression (CAGE) was developed to detect the 5′ end of RNA. Trapping of the RNA 5′-cap structure enables the enrichment and selective sequencing of complete transcripts. Upscaled high-throughput versions of CAGE have enabled the genome-wide identification of transcription start sites, including transcriptionally active promoters and enhancers. CAGE sequencing can be exploited to draw comprehensive maps of active genomic regulatory elements in a cell type- and activation-specific manner. The cells of the immune system are among the best candidates to be analyzed in humans, since they are easily accessible. In this review, we discuss how CAGE data are instrumental for integrative analyses with quantitative trait loci and omics data, and their usefulness in the mechanistic interpretation of the effects of genetic variations over the entire human genome. Integrating CAGE data with the currently available omics information will contribute to better understanding of the genome-wide association study variants that lie outside of annotated genes, deepening our knowledge on human diseases, and enabling the targeted design of more specific therapeutic interventions.



中文翻译:

基因表达 (CAGE) 和非编码调控元件的上限分析

基因表达帽分析 (CAGE) 被开发用于检测 RNA 的 5' 端。RNA 5'-cap 结构的捕获能够对完整转录物进行富集和选择性测序。升级后的 CAGE 高通量版本能够在全基因组范围内识别转录起始位点,包括转录活性启动子和增强子。CAGE 测序可用于以细胞类型和激活特异性方式绘制活性基因组调控元件的综合图谱。免疫系统的细胞是人类分析的最佳候选者之一,因为它们很容易获得。在这篇综述中,我们讨论了 CAGE 数据如何有助于使用数量性状基因座和组学数据进行综合分析,以及它们在对整个人类基因组遗传变异的影响进行机械解释方面的有用性。将 CAGE 数据与当前可用的组学信息相结合将有助于更好地理解注释基因之外的全基因组关联研究变体,加深我们对人类疾病的了解,并能够有针对性地设计更具体的治疗干预措施。

更新日期:2021-09-02
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