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microRNAs in diseases: from candidate to modifier genes
Author(s) -
Bandiera S,
Hatem E,
Lyonnet S,
HenrionCaude A
Publication year - 2010
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2010.01370.x
Subject(s) - microrna , biology , gene , genetics , single nucleotide polymorphism , computational biology , mendelian inheritance , candidate gene , copy number variation , snp , genome , genotype
Bandiera S, Hatem E, Lyonnet S, Henrion‐Caude A. microRNAs in diseases: from candidate to modifier genes. 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.