AUTHOR=Cammaerts Sophia , Strazisar Mojca , De Rijk Peter , Del Favero Jurgen 

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

JOURNAL=Frontiers in Genetics

VOLUME=6

YEAR=2015

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2015.00186

DOI=10.3389/fgene.2015.00186

ISSN=1664-8021

ABSTRACT=<p>MicroRNAs (miRNAs) are important regulators of gene expression and like any other gene, their coding sequences are subject to genetic variation. Variants in miRNA genes can have profound effects on miRNA functionality at all levels, including miRNA transcription, maturation, and target specificity, and as such they can also contribute to disease. The impact of variants in miRNA genes is the focus of the present review. To put these effects into context, we first discuss the requirements of miRNA 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.</p>