Elsevier

Gene

Volume 640, 15 January 2018, Pages 66-72
Gene

Review
microRNA single polynucleotide polymorphism influences on microRNA biogenesis and mRNA target specificity

https://doi.org/10.1016/j.gene.2017.10.021Get rights and content

Abstract

microRNAs (miRNAs) are nowadays recognized as an essential component of gene regulatory networks. Furthermore, deregulation of miRNAs expression often contributes to human pathologies. Recently, a substantial number of single nucleotide polymorphism (SNPs) and rare mutations within pri-, pre- and mature miRNA sequences have been reported. These miRNA SNPs have often been associated with human disease. However, due to the complexity of miRNA biogenesis and the genome-wide functional effects of miRNAs, the determination of biological consequences of these miRNA SNPs remains challenging. Despite an increasing number of reports linking miRNA SNPs with human pathologies, few reports have analyzed the mechanism by which miRNA-SNPs contribute to disease pathogenesis. In this review, we discuss how single polynucleotide polymorphisms in miRNAs genes may influence miRNAs expression and function and thus potentially alter disease pathogenesis.

Section snippets

Background

During the past decade, the focus of research has shifted from mRNAs to noncoding RNAs (ncRNAs) as a major regulator of the human genome. One particular class of ncRNAs that are found in all eukaryotic cells is short RNA molecules termed microRNAs (miRNAs) receives a lot of attention since they can specifically bind to target mRNAs, resulting in translational repression and gene silencing (Bartel, 2004). To date, over 2500 mature miRNAs have been reported in the human genome (Kozomara and

Conclusions

Genetic changes that affect miRNA target specificity or their physiological levels may have serious consequences on cellular protein levels and thus contribute to various diseases. However, despite the growing number of reports assigning SNPs in miRNA to human diseases, the functional consequences of these changes remain very poorly understood. Majority of the miR SNP reports are based solely on correlation studies, and thus not provide any mechanistic insight on the disease mechanism nor the

Acknowledgments

This work has been supported by National Science Center OPUS Program under contract UMO-2015/17/B/NZ3/01485 (to R.B.)

Author contributions

A.S.; D.L. and J. K. wrote the manuscript. J.C. and R.B. revised the manuscript.

Competing financial interests

The authors declare no competing financial interests.

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