Adenosine-to-inosine RNA editing and human disease.
Adenosine-to-inosine RNA editing and human disease.
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DOI：
10.1186/gm508
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发表时间：
2013
期刊：
影响因子：
12.3
通讯作者：
Nishikura K
中科院分区：
文献类型：
--
作者：
Slotkin W;Nishikura K
A-to-I RNA编辑是一种转录后修饰，其将编码和非编码RNA转录物中的腺苷转化为肌苷。它是由阿达尔（腺苷脱氨酶作用于RNA）酶催化的，该酶存在于全身，但在中枢神经系统中最普遍。肌苷表现出与鸟苷最相似的性质。因此，ADAR介导的编辑可以在转录后改变密码子，引入或去除剪接位点，或影响RNA分子与自身或与其他RNA的碱基配对。A-to-I编辑是一种调节和多样化转录组的机制，但ADAR的全部生物学意义尚不清楚。ADAR在脊椎动物中高度保守，并且对于哺乳动物的正常发育是必需的。异常的阿达尔活性与多种人类疾病相关，包括癌症、神经系统疾病、代谢疾病、病毒感染和自身免疫性疾病。已显示ADAR通过编辑谷氨酸受体、编辑5-羟色胺受体、阿达尔基因突变以及通过其他机制（包括最近鉴定的在微小RNA加工中的调节作用）促成疾病病理学。许多这些疾病的研究进展可能取决于对ADAR生物学功能的更好理解。在这里，我们回顾了最近的研究ADAR介导的RNA编辑和人类疾病之间的联系。
A-to-I RNA editing is a post-transcriptional modification that converts adenosines to inosines in both coding and noncoding RNA transcripts. It is catalyzed by ADAR (adenosine deaminase acting on RNA) enzymes, which exist throughout the body but are most prevalent in the central nervous system. Inosines exhibit properties that are most similar to those of guanosines. As a result, ADAR-mediated editing can post-transcriptionally alter codons, introduce or remove splice sites, or affect the base pairing of the RNA molecule with itself or with other RNAs. A-to-I editing is a mechanism that regulates and diversifies the transcriptome, but the full biological significance of ADARs is not understood. ADARs are highly conserved across vertebrates and are essential for normal development in mammals. Aberrant ADAR activity has been associated with a wide range of human diseases, including cancer, neurological disorders, metabolic diseases, viral infections and autoimmune disorders. ADARs have been shown to contribute to disease pathologies by editing of glutamate receptors, editing of serotonin receptors, mutations in ADAR genes, and by other mechanisms, including recently identified regulatory roles in microRNA processing. Advances in research into many of these diseases may depend on an improved understanding of the biological functions of ADARs. Here, we review recent studies investigating connections between ADAR-mediated RNA editing and human diseases.
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影响因子：
56.9
作者：
BRUSA, R;ZIMMERMANN, F;SPRENGEL, R
通讯作者：
SPRENGEL, R
影响因子：
64.8
作者：
Burns, CM;Chu, H;Emeson, RB
通讯作者：
Emeson, RB
影响因子：
12.3
作者：
Blow MJ;Grocock RJ;van Dongen S;Enright AJ;Dicks E;Futreal PA;Wooster R;Stratton MR
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Stratton MR
影响因子：
64.5
作者：
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通讯作者：
Tollervey D
影响因子：
4.8
作者：
Cenci, Caterina;Barzotti, Rita;Gallo, Angela
通讯作者：
Gallo, Angela