| Distribution and functional impact of DNA copy number variation in the rat. | |
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MedLine Citation:
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PMID: 18443591 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Victor Guryev; Kathrin Saar; Tatjana Adamovic; Mark Verheul; Sebastiaan A A C van Heesch; Stuart Cook; Michal Pravenec; Timothy Aitman; Howard Jacob; James D Shull; Norbert Hubner; Edwin Cuppen |
Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Nature genetics Volume: 40 ISSN: 1546-1718 ISO Abbreviation: Nat. Genet. Publication Date: 2008 May |
Date Detail:
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Created Date: 2008-05-02 Completed Date: 2008-05-22 Revised Date: 2008-05-23 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: United States |
Other Details:
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Languages: eng Pagination: 538-45 Citation Subset: IM |
Affiliation:
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Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences & University Medical Centre Utrecht, Uppsalalaan 8, 3584 CT, Utrecht, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Chromosomes / genetics Computational Biology DNA / genetics* Disease Models, Animal* Gene Expression Genetic Diseases, Inborn / genetics* Genome* Humans Nucleic Acid Hybridization Quantitative Trait Loci Rats / genetics* Rats, Inbred Strains |
| Grant Support | |
ID/Acronym/Agency:
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CA77876/CA/NCI NIH HHS; //Howard Hughes Medical Institute |
| Chemical | |
Reg. No./Substance:
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9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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