Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression

PLoS One. 2014 Feb 28;9(2):e90391. doi: 10.1371/journal.pone.0090391. eCollection 2014.

Abstract

MicroRNAs are involved in post-transcriptional down-regulation of gene expression. Variations in miRNA genes can severely affect downstream-regulated genes and their pathways. However, population-specific burden of CNVs on miRNA genes and the complexities created towards the phenotype is not known. From a total of 44109 CNVs investigated from 1715 individuals across 12 populations using high-throughput arrays, 4007 miRNA-CNVs (∼ 9%) consisting 6542 (∼ 5%) miRNA genes with a total of 333 (∼ 5%) singleton miRNA genes were identified. We found miRNA-CNVs across the genomes of individuals showing multiple hits in many targets, co-regulated under the same pathway. This study proposes four mechanisms unraveling the many complexities in miRNA genes, targets and co-regulated miRNA genes towards establishment of phenotypic diversity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human
  • Computational Biology
  • DNA Copy Number Variations*
  • Gene Expression Regulation*
  • Genetic Predisposition to Disease
  • Genetics, Population*
  • Genome, Human*
  • Genotype
  • Humans
  • Metabolic Networks and Pathways / genetics*
  • MicroRNAs / classification
  • MicroRNAs / genetics*
  • Phenotype

Substances

  • MicroRNAs

Grants and funding

This work received funding from the following sources: Department of Science and Technology-Health Science (SR/SO/HS-103/2007), Government of India, New Delhi; Yenepoya University Seed grant (YU/Seed Grant/2011-011), Mangalore. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.