PLoS ONE (Jan 2014)

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

  • Avinash M Veerappa,
  • Megha N Murthy,
  • Sangeetha Vishweswaraiah,
  • Kusuma Lingaiah,
  • Raviraj V Suresh,
  • Somanna Ajjamada Nachappa,
  • Nelchi Prashali,
  • Sangeetha Nuggehalli Yadav,
  • Manjula Arsikere Srikanta,
  • Dinesh S Manjegowda,
  • Keshava B Seshachalam,
  • Nallur B Ramachandra

DOI
https://doi.org/10.1371/journal.pone.0090391
Journal volume & issue
Vol. 9, no. 2
p. e90391

Abstract

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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.