Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression.
basic_science · Level V
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- Record sourced from PubMed, PMID 24587348.
- Also identified by DOI 10.1371/journal.pone.0090391 and PMC identifier 3938728.
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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.
Medical subject headings
- DNA Copy Number Variations
- Gene Expression Regulation
- Genetics, Population
- Genome, Human
- Metabolic Networks and Pathways
- MicroRNAs