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.
Inserm U781, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France.
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Bandiera
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Hatem
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Lyonnet
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Henrion-Caude
D019295:Computational Biology; D056915:DNA Copy Number Variations / Q000235:genetics; D004194:Disease / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D035683:MicroRNAs / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D035683:MicroRNAs