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Functional genetic variation of human miRNAs and phenotypic consequences

Borel, Christelle ; Antonarakis, Stylianos

In: Mammalian Genome, 2008, vol. 19, no. 7-8, p. 503-509

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    Titre
    • Functional genetic variation of human miRNAs and phenotypic consequences
    Auteur
    • Borel, Christelle. Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1211, Geneva, Switzerland
    • Antonarakis, Stylianos. Department of Genetic Medicine and Development, University of Geneva Medical School and University Hospitals of Geneva, 1211, Geneva, Switzerland
    Type de document
    • Postprint
    Classification
    • Biologie, Sciences de la vie
    Identifiant OAI-PMH
    • oai:doc.rero.ch:315682
    Summary
    A large number of human protein-coding genes are finely regulated by one or more microRNAs. Members of this small noncoding RNA family have emerged as important post-transcriptional regulators of gene expression and are involved in a number of disease phenotypes. Variability in the human genome is extensive and includes the common and rare single nucleotide polymorphisms (SNPs) and copy number variations (CNVs). The functional significance of the genome's variability is under intense investigation. In this article we review the emerging literature on how human genomic variation influences the outcome of microRNA targeting and the associated phenotypic effects. Illustrative examples are discussed that demonstrate the biological importance of functional polymorphisms affecting miRNA-mediated gene regulation