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.
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Web Resources
dbSNP: http://www.ncbi.nlm.nih.gov
SeattleSNPS database: http://pga.gs.washington.edu
International HapMap project: http://www.hapmap.org
Perlegen Sciences: http://genome.perlegen.com
Patrocles: http://www.patrocles.org
PolymiRTS: http://compbio.utmem.edu/miRSNP/
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Acknowledgments
The authors’ lab is supported by the Swiss National Science Foundation, the NCCR Frontiers in Genetics, The European Union, the NIH, and the Lejeune and ChildCare Foundations. We thank our laboratory colleagues for discussions, critical reading, and numerous suggestions.
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Borel, C., Antonarakis, S.E. Functional genetic variation of human miRNAs and phenotypic consequences. Mamm Genome 19, 503–509 (2008). https://doi.org/10.1007/s00335-008-9137-6
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DOI: https://doi.org/10.1007/s00335-008-9137-6