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

• Published in: PloS one Vol. 9; no. 2; p. e90391
• Main Authors: Veerappa, Avinash M, Murthy, Megha N, Vishweswaraiah, Sangeetha, Lingaiah, Kusuma, Suresh, Raviraj V, Nachappa, Somanna Ajjamada, Prashali, Nelchi, Yadav, Sangeetha Nuggehalli, Srikanta, Manjula Arsikere, Manjegowda, Dinesh S, Seshachalam, Keshava B, Ramachandra, Nallur B
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 28-02-2014; Public Library of Science (PLoS)
• Subjects: Archives & records; Autism; Biology; Chromosome Mapping; Chromosomes, Human; Colorectal cancer; Computational Biology; Consortia; Copy number; Diabetes; DNA Copy Number Variations; Gene expression; Gene Expression Regulation; Gene regulation; Genes; Genetic aspects; Genetic Predisposition to Disease; Genetics, Population; Genome, Human; Genomes; Genomics; Genotype; Humans; Leukemia; Metabolic Networks and Pathways - genetics; MicroRNA; MicroRNAs; MicroRNAs - classification; MicroRNAs - genetics; miRNA; Mutation; Phenotype; Population; Post-transcription; Ribonucleic acid; RNA; Science education; Studies; Transcription (Genetics); Tuberculosis; Zoology; India
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0090391

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.