title: Homo sapiens exhibit a distinct pattern of CNV genes regulation: an important role of miRNAs and SNPs in expression plasticity.
abstract: Gene expression regulation is a complex and highly organized process involving a variety of genomic factors. It is widely accepted that differences in gene expression can contribute to the phenotypic variability between species, and that their interpretation can aid in the understanding of the physiologic variability. CNVs and miRNAs are two major players in the regulation of expression plasticity and may be responsible for the unique phenotypic characteristics observed in different lineages. We have previously demonstrated that a close interaction between these two genomic elements may have contributed to the regulation of gene expression during evolution. This work presents the molecular interactions between CNV and non CNV genes with miRNAs and other genomic elements in eight different species. A comprehensive analysis of these interactions indicates a unique nature of human CNV genes regulation as compared to other species. By using genes with short 3' UTR that abolish the "canonical" miRNA-dependent regulation, as a model, we demonstrate a distinct and tight regulation of human genes that might explain some of the unique features of human physiology. In addition, comparison of gene expression regulation between species indicated that there is a significant difference between humans and mice possibly questioning the effectiveness of the latest as experimental models of human diseases.
authors.affiliation: Medical Research Center, University of Heidelberg, Mannheim, Germany.
authors.forename: Harsh
authors.initials: H
authors.lastname: Dweep
authors.affiliation: Department of Life and Health Sciences, University of Nicosia, Nicosia Cyprus.
authors.forename: Nada
authors.initials: N
authors.lastname: Kubikova
authors.affiliation: Medical Research Center, University of Heidelberg, Mannheim, Germany.
authors.forename: Norbert
authors.initials: N
authors.lastname: Gretz
authors.affiliation: Molecular Medicine Research Center and Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Voskarides
authors.affiliation: 1] Department of Life and Health Sciences, University of Nicosia, Nicosia Cyprus [2] St. George's University of London Medical Program offered at the University of Nicosia Medical School, Nicosia, Cyprus.
authors.forename: Kyriacos
authors.initials: K
authors.lastname: Felekkis
mesh_terms: D020413:3' Untranslated Regions; D056915:DNA Copy Number Variations / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D035683:MicroRNAs / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D020413:3' Untranslated Regions; D035683:MicroRNAs