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Distribution and functional impact of DNA copy number variation in the rat

Official URL:https://doi.org/10.1038/ng.141
PubMed:View item in PubMed
Creators Name:Guryev, V. and Saar, K. and Adamovic, T. and Verheul, M. and van Heesch, S.A. and Cook, S. and Pravenec, M. and Aitman, T. and Jacob, H. and Shull, J.D. and Huebner, N. and Cuppen, E.
Journal Title:Nature Genetics
Journal Abbreviation:Nat Genet
Volume:40
Number:5
Page Range:538-545
Date:May 2008
Keywords:Chromosomes, Computational Biology, DNA, Animal Disease Models, Gene Expression, Inborn Genetic Diseases, Genome, Nucleic Acid Hybridization, Quantitative Trait Loci, Animals, Rats
Abstract:The abundance and dynamics of copy number variants (CNVs) in mammalian genomes poses new challenges in the identification of their impact on natural and disease phenotypes. We used computational and experimental methods to catalog CNVs in rat and found that they share important functional characteristics with those in human. In addition, 113 one-to-one orthologous genes overlap CNVs in both human and rat, 80 of which are implicated in human disease. CNVs are nonrandomly distributed throughout the genome. Chromosome 18 is a cold spot for CNVs as well as evolutionary rearrangements and segmental duplications, suggesting stringent selective mechanisms underlying CNV genesis or maintenance. By exploiting gene expression data available for rat recombinant inbred lines, we established the functional relationship of CNVs underlying 22 expression quantitative trait loci. These characteristics make the rat an excellent model for studying phenotypic effects of structural variation in relation to human complex traits and disease.
ISSN:1061-4036
Publisher:Nature Publishing Group (U.S.A.)
Item Type:Article

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