Impact of copy number variations burden on coding genome in humans using integrated high resolution arrays

Veerappa, A. M. and Lingaiah, K. and Vishweswaraiah, S. and Murthy, M. N. and Suresh, R. V. and Manjegowda, D. S. and Ramachandra, N. B. (2014) Impact of copy number variations burden on coding genome in humans using integrated high resolution arrays. Genetics Research, 96. ISSN 0016-6723

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Summary Copy number variations (CNVs) alter the transcriptional and translational levels of genes by disrupting the coding structure and this burden of CNVs seems to be a significant contributor to phenotypic variations. Therefore it was necessary to assess the complexities of CNV burden on the coding genome. A total of 1715 individuals from 12 populations were used for CNV analysis in the present investigation. Analysis was performed using Affymetrix Genome-Wide Human SNP Array 6·0 chip and CytoScan High-Density arrays. CNVs were more frequently observed in the coding region than in the non-coding region. CNVs were observed vastly more frequently in the coding region than the non-coding region. CNVs were found to be enriched in the regions containing functional genes (83-96%) compared with the regions containing pseudogenes (4-17%). CNVs across the genome of an individual showed multiple hits across many genes, whose proteins interact physically and function under the same pathway. We identified varying numbers of proteins and degrees of interactions within protein complexes of single individual genomes. This study represents the first draft of a population-specific CNV genes map as well as a cross-populational map. The complex relationship of CNVs on genes and their physically interacting partners unravels many complexities involved in phenotype expression. This study identifies four mechanisms contributing to the complexities caused by the presence of multiple CNVs across many genes in the coding part of the genome.

Item Type: Article
Uncontrolled Keywords: human, Humans, Chromosome Mapping, genetics, Polymorphism, procedures, Single Nucleotide, single nucleotide polymorphism, major clinical study, protein analysis, Genome, gene, Genes, phenotype, Phenotype, DNA structure, Human, copy number variation, DNA Copy Number Variations, human genome, genome, chromosome map, DNA microarray, Oligonucleotide Array Sequence Analysis, population model, Protein Interaction Mapping, pseudogene
Subjects: B Life Science > Zoology
Divisions: Department of > Zoology
Depositing User: Arshiya Kousar Library Assistant
Date Deposited: 10 Jul 2019 09:47
Last Modified: 10 Jul 2019 09:47

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