Frontiers in Genetics (May 2015)

Genetic variants in microRNA genes: impact on microRNA expression, function and disease

  • Sophia eCammaerts,
  • Sophia eCammaerts,
  • Mojca eStrazisar,
  • Mojca eStrazisar,
  • Peter eDe Rijk,
  • Peter eDe Rijk,
  • Jurgen eDel Favero,
  • Jurgen eDel Favero,
  • Jurgen eDel Favero

DOI
https://doi.org/10.3389/fgene.2015.00186
Journal volume & issue
Vol. 6

Abstract

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MicroRNAs are important regulators of gene expression and like any other gene, their coding sequences are subject to genetic variation. Variants in microRNA genes can have profound effects on miRNA functionality at all levels, including microRNA transcription, maturation and target specificity, and as such they can also contribute to disease. The impact of variants in microRNA genes is the focus of the present review. To put these effects into context, we first discuss the requirements of microRNA transcripts for maturation. In the last part an overview of available databases and tools and experimental approaches to investigate miRNA variants related to human disease is presented.

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