Dark matter RNA illuminates the puzzle of genome-wide association studies.
Dark matter RNA illuminates the puzzle of genome-wide association studies.
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DOI：
10.1186/1741-7015-12-97
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发表时间：
2014-06-12
期刊：
影响因子：
9.3
通讯作者：
Kapranov P
中科院分区：
文献类型：
--
作者：
St Laurent G;Vyatkin Y;Kapranov P
在过去的十年中，许多研究已经将人类基因组序列变异与复杂疾病的易感性联系起来。然而，这些变异中的大多数位于人类基因组的图表区域之外，其功能我们已经了解；也就是编码蛋白质的序列。因此，缺乏将这些变异转化为疾病易感性的机制的一般概念，这可能会使这些研究的有效性受到质疑。在这里，我们将越来越多的不编码蛋白质、功能我们尚不了解的明显有功能的rna（所谓的“暗物质”rna）与疾病相关变异联系起来。我们回顾了在不同的基因组图谱工作中取得的进展-从人类基因组转录的所有RNA的无偏谱分析-并提供了疾病相关变异体通过干扰哺乳动物细胞中存在的非编码RNA的调节特性而发挥作用的论点。
In the past decade, numerous studies have made connections between sequence variants in human genomes and predisposition to complex diseases. However, most of these variants lie outside of the charted regions of the human genome whose function we understand; that is, the sequences that encode proteins. Consequently, the general concept of a mechanism that translates these variants into predisposition to diseases has been lacking, potentially calling into question the validity of these studies. Here we make a connection between the growing class of apparently functional RNAs that do not encode proteins and whose function we do not yet understand (the so-called ‘dark matter’ RNAs) and the disease-associated variants. We review advances made in a different genomic mapping effort – unbiased profiling of all RNA transcribed from the human genome – and provide arguments that the disease-associated variants exert their effects via perturbation of regulatory properties of non-coding RNAs existing in mammalian cells.
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