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.
Highlights
Copy Number Variations (CNVs) are a segment of DNA of . 1 kb with a variable copy number compared with the reference genome [1]
We identified a total of 44109 CNVs investigated from 1715 individuals across 12 populations
4007 miRNACNVs (,9%) contained 6542 (,5%) miRNA genes with a total of 333 (,5%) singleton miRNA genes. These miRNA-CNVs were identified in 1438 (,83.8%) individuals with a mean of 4.5 miRNA genes (Table 1) (Figure 1). miRNA-CNVs were found ranging from 3–11% across all populations with Taiwan, Ashkenazi Jews and Australia showing .8% while the remaining populations were found between 4–7% and YRI with only 3%
Summary
Copy Number Variations (CNVs) are a segment of DNA of . 1 kb with a variable copy number compared with the reference genome [1]. Copy Number Variations (CNVs) are a segment of DNA of . 1 kb with a variable copy number compared with the reference genome [1]. CNV occurrence can be limited to a single gene or a contiguous set of genes and results in dosage-sensitiveness, which may contribute significantly towards human phenotypic variability, complex behavioral traits and disease susceptibility. CNVs are prevalent in both coding and non-coding regions of the genome encompassing both genes and regulatory regions. These coding regions contain MicroRNAs (miRNA) genes across all chromosomes and makes up about 4% of the coding genes. These coding regions contain MicroRNAs (miRNA) genes across all chromosomes and makes up about 4% of the coding genes. miRNAs are ,22 base small RNA sequences, derived from the pre-transcript of ,70–120 bases that affect significant biological processes by repressing the translation of coding genes by binding to specific sequence in the 39UTR of target genes [5]
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