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Functional genetic variation of human miRNAs and phenotypic consequences

Published in Mammalian Genome. 2008, vol. 19, no. 7-8, p. 503-9
Collection Open Access - Licence nationale Springer
Abstract 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.
Keywords Base SequenceGenetic VariationHumansMicroRNAs/genetics/metabolismPhenotypePolymorphism, GeneticRNA, Messenger/genetics/metabolism
PMID: 18787897
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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BOREL, Christelle, ANTONARAKIS, Stylianos. Functional genetic variation of human miRNAs and phenotypic consequences. In: Mammalian Genome, 2008, vol. 19, n° 7-8, p. 503-9. doi: 10.1007/s00335-008-9137-6 https://archive-ouverte.unige.ch/unige:1319

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Deposited on : 2009-04-02

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