microRNAs in diseases: from candidate to modifier genes
microRNAs in diseases: from candidate to modifier genes
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DOI：
10.1111/j.1399-0004.2010.01370.x
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发表时间：
2010-04-01
影响因子：
3.5
通讯作者：
Henrion-Caude, A.
中科院分区：
文献类型：
--
作者：
Bandiera, S.;Hatem, E.;Henrion-Caude, A.
直到最近，对易患或导致孟德尔疾病的遗传因素的搜索几乎完全集中在蛋白质编码序列上。作为基因表达调控系统的重要组成部分，microRNAs(MiRNAs)在阐明许多遗传性疾病方面有着巨大的希望。本文综述了miRNA基因本身及其靶基因水平上的遗传变异，无论是拷贝数变异(CNV)还是单核苷酸多态(SNP)。我们认为miRNA是候选基因，或者是致病基因的调节基因，或者是修饰基因。这一领域的最佳范例既有单基因疾病，也有复杂性状。对识别miRNAs和表征miRNA靶标所必需的计算工具进行了综述。
Until recently, the search for genetic factors predisposing or causing Mendelian diseases focused almost exclusively on protein coding sequences. As essential components of the regulatory system of gene expression, microRNAs (miRNAs) hold great promises into elucidating a number of inherited diseases. The herein review focuses on the genetic variations, whether copy number variation (CNV) or single nucleotide polymorphism (SNP), alternatively at the levels of the miRNA gene itself and of its target genes. We consider miRNA as the candidate gene, or the regulator of a disease-causing gene, or the modifier gene. The best paradigms of the field are presented in both monogenic diseases and complex traits. The computational tools, which are essential into identifying miRNAs and characterizing miRNA targets, are overviewed.