Inserm U781, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France.
Clin Genet. 2010 Apr;77(4):306-13. doi: 10.1111/j.1399-0004.2010.01370.x. Epub 2010 Jan 5.
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.
直到最近，寻找导致孟德尔疾病的遗传因素的研究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具有很大的潜力。本文综述主要关注遗传变异，无论是 miRNA 基因本身及其靶基因的拷贝数变异（CNV）还是单核苷酸多态性（SNP），我们将 miRNA 视为候选基因、疾病相关基因的调控因子或修饰基因。该领域的最佳范例在单基因疾病和复杂特征中均有呈现。文中还概述了用于鉴定 miRNAs 和描述 miRNA 靶标的计算工具。
