Genetic variation in the non-coding genome: Involvement of micro-RNAs and long non-coding RNAs in disease

Barbara Hrdlickova, Rodrigo Coutinho de Almeida, Zuzanna Borek, Sebo Withoff*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

138 Citations (Scopus)

Abstract

It has been found that the majority of disease-associated genetic variants identified by genome-wide association studies are located outside of protein-coding regions, where they seem to affect regions that control transcription (promoters, enhancers) and non-coding RNAs that also can influence gene expression. In this review, we focus on two classes of non-coding RNAs that are currently a major focus of interest: micro-RNAs and long non-coding RNAs. We describe their biogenesis, suggested mechanism of action, and discuss how these non-coding RNAs might be affected by disease-associated genetic alterations. The discovery of these alterations has already contributed to a better understanding of the etiopathology of human diseases and yielded insight into the function of these non-coding RNAs. We also provide an overview of available databases, bioinformatics tools, and high-throughput techniques that can be used to study the mechanism of action of individual non-coding RNAs. This article is part of a Special Issue entitled: From Genome to Function. (C) 2014 Elsevier B.V. All rights reserved.

Original languageEnglish
Pages (from-to)1910-1922
Number of pages13
JournalBiochimica et biophysica acta-Molecular basis of disease
Volume1842
Issue number10
DOIs
Publication statusPublished - Oct-2014

Keywords

  • SNP
  • ncRNA
  • miRNA
  • IncRNA
  • Genetic variant
  • Human disease
  • PROSTATE-SPECIFIC GENE
  • TARGET SITES
  • CANCER-CELLS
  • ANTISENSE TRANSCRIPTS
  • WIDE IDENTIFICATION
  • CAENORHABDITIS-ELEGANS
  • HUMAN TELOMERASE
  • INTERACTION MAPS
  • COMPLEX TRAITS
  • BINDING-SITES

Cite this