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.©2014 Veerappa et al.
Veerappa, A. M., Murthy, M., Vishweswaraiah, S., Lingaiah, K., Suresh, R. V., Nachappa, S. A., … Ramachandra, N. B. (2014). Copy number variations burden on mirna genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression. PLoS ONE, 9(2). https://doi.org/10.1371/journal.pone.0090391