title: Copy number variation of microRNA genes in the human genome.
abstract: BACKGROUND
  MicroRNAs (miRNAs) are important genetic elements that regulate the expression of thousands of human genes. Polymorphisms affecting miRNA biogenesis, dosage and target recognition may represent potentially functional variants. The functional consequences of single nucleotide polymorphisms (SNPs) within critical miRNA sequences and outside of miRNA genes were previously demonstrated using both experimental and computational methods. However, little is known about how copy number variations (CNVs) affect miRNA genes.
  
  
  RESULTS
  In this study, we analyzed the co-localization of all miRNA loci with known CNV regions. Using bioinformatic tools we identified and validated 209 copy number variable miRNA genes (CNV-miRNAs) in CNV regions deposited in Database of Genomic Variations (DGV) and 11 CNV-miRNAs in two sets of CNVs defined as highly polymorphic. We propose potential mechanisms of CNV-mediated variation of functional copies of miRNAs (dosage) for different types of CNVs overlapping miRNA genes. We also showed that, consistent with their essential biological functions, miRNA loci are underrepresented in highly polymorphic and well-validated CNV regions.
  
  
  CONCLUSIONS
  We postulate that CNV-miRNAs are potential functional variants and should be considered high priority candidate variants in genotype-phenotype association studies.
authors.affiliation: Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Marcinkowska
authors.forename: Maciej
authors.initials: M
authors.lastname: Szymanski
authors.forename: Wlodzimierz J
authors.initials: WJ
authors.lastname: Krzyzosiak
authors.forename: Piotr
authors.initials: P
authors.lastname: Kozlowski
mesh_terms: D056915:DNA Copy Number Variations / Q000235:genetics*; D056426:Genetic Loci; D015894:Genome, Human; D006801:Humans; D035683:MicroRNAs / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide
chemical_list: D035683:MicroRNAs