title: Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression.
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.
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
authors.forename: Avinash M
authors.initials: AM
authors.lastname: Veerappa
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
authors.forename: Megha N
authors.initials: MN
authors.lastname: Murthy
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
authors.forename: Sangeetha
authors.initials: S
authors.lastname: Vishweswaraiah
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
authors.forename: Kusuma
authors.initials: K
authors.lastname: Lingaiah
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
authors.forename: Raviraj V
authors.initials: RV
authors.lastname: Suresh
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
authors.forename: Somanna Ajjamada
authors.initials: SA
authors.lastname: Nachappa
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
authors.forename: Nelchi
authors.initials: N
authors.lastname: Prashali
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
authors.forename: Sangeetha Nuggehalli
authors.initials: SN
authors.lastname: Yadav
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
authors.forename: Manjula Arsikere
authors.initials: MA
authors.lastname: Srikanta
authors.affiliation: Department of Anatomy, Yenepoya Medical College, Yenepoya University, Mangalore, Karnataka, India ; Nitte University Centre for Science Education & Research, K S Hegde Medical Academy, Nitte University, Deralakatte, Mangalore, Karnataka, India.
authors.forename: Dinesh S
authors.initials: DS
authors.lastname: Manjegowda
authors.affiliation: Department of Neurology, JSS Hospital, Mysore, Karnataka, India.
authors.forename: Keshava B
authors.initials: KB
authors.lastname: Seshachalam
authors.affiliation: Genetics and Genomics Lab, Department of Studies in Zoology, University of Mysore, Manasagangotri, Mysore, Karnataka, India.
authors.forename: Nallur B
authors.initials: NB
authors.lastname: Ramachandra
mesh_terms: D002874:Chromosome Mapping; D002877:Chromosomes, Human; D019295:Computational Biology; D056915:DNA Copy Number Variations; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D053858:Metabolic Networks and Pathways / Q000235:genetics*; D035683:MicroRNAs / Q000145:classification / Q000235:genetics*; D010641:Phenotype
chemical_list: D035683:MicroRNAs