microRNAs in diseases: from candidate to modifier genes

被引：70

作者：

Bandiera, S. ^{[1
]}

Hatem, E. ^{[1
]}

Lyonnet, S. ^{[1
]}

Henrion-Caude, A. ^{[1
]}

机构：

[1] Univ Paris 05, INSERM, U781, Hop Necker Enfants Malad, F-75015 Paris, France

来源：

CLINICAL GENETICS | 2010年 / 77卷 / 04期

关键词：

computational tools; copy number variation; genetic diseases; microRNA; polymorphism; ANGIOTENSIN-CONVERTING ENZYME; COPY-NUMBER VARIATIONS; COMPREHENSIVE ANALYSIS; TOURETTE-SYNDROME; BINDING-SITE; HEARING-LOSS; POLYMORPHISMS; ASSOCIATION; SLITRK1; RISK;

D O I：

10.1111/j.1399-0004.2010.01370.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：306 / 313

页数：8

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