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突显人类疾病中转录的超保守区域。

Highlighting transcribed ultraconserved regions in human diseases.

机构信息

Department of Genetics, Universidade Federal do Paraná, Curitiba, Brazil.

Department of Experimental Therapeutics, MD Anderson Cancer Center, University of Texas, Houston, Texas.

出版信息

Wiley Interdiscip Rev RNA. 2020 Mar;11(2):e1567. doi: 10.1002/wrna.1567. Epub 2019 Sep 5.

DOI:10.1002/wrna.1567
PMID:31489780
Abstract

Ultraconserved regions (UCRs) are 481 DNA segments longer than 200 bp in length that are completely conserved among human, mouse, and rat and, extremely conserved across disparate taxa. More than 90% of UCRs are transcribed (T-UCRs) in normal tissues, but most of them remain uncharacterized. In addition, it was demonstrated that T-UCRs have a tissue-specific expression, and a differential expression profile between tumors and other diseases, which suggests that most of T-UCRs may have an important role in cell processes. However, there is little information about T-UCR characterization or about their molecular mechanisms of action. Taking this into account, in this study, we aim to summarize deregulated T-UCRs in human diseases, emphasizing the ones with stronger functional evidences that are associated with important cell pathways and have a detailed molecular characterization. This article is characterized under: RNA in Disease and Development > RNA in Disease Regulatory RNAs/RNAi/Riboswitches > Regulatory RNAs.

摘要

超保守区 (UCRs) 是指人类、小鼠和大鼠中长度超过 200bp 的完全保守的 481 个 DNA 片段,并且在不同的分类群中也极为保守。超过 90%的 UCRs 在正常组织中是转录的 (T-UCRs),但其中大多数仍未被描述。此外,研究表明 T-UCRs 在组织中有特异性表达,并且在肿瘤和其他疾病之间存在不同的表达谱,这表明大多数 T-UCRs 可能在细胞过程中发挥重要作用。然而,关于 T-UCR 的特征或其作用的分子机制的信息却很少。考虑到这一点,在这项研究中,我们旨在总结人类疾病中失调的 T-UCRs,重点强调那些具有更强功能证据的 T-UCRs,这些证据与重要的细胞途径相关,并具有详细的分子特征。本文的特征在于:疾病和发育中的 RNA > 疾病中的调控 RNA/RNAi/核糖开关 > 调控 RNA。

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