High-resolution breakpoint analysis provides evidence for the sequence-directed nature of genome rearrangements in hereditary disorders
| Autor: | Pierre Hutter, Karl Heinimann, Hynek Bachraty, Ian Tomlinson, Denisa Ilencikova, Zdena Bartosova, Katarína Bachratá, Salvatore Piscuoglio, Benno Roethlisberger, Michal Kovac, Monika Kovacova |
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| Rok vydání: | 2014 |
| Předmět: |
Somatic cell
Adenomatous Polyposis Coli Protein Biology Genome Germline chemistry.chemical_compound Chromosome Breakpoints Antigens Neoplasm Genetics Homologous chromosome Humans Homologous Recombination Genetics (clinical) Sequence (medicine) Adaptor Proteins Signal Transducing Mismatch Repair Endonuclease PMS2 Adenosine Triphosphatases Base Sequence fungi Breakpoint Chromosome Mapping Nuclear Proteins Molecular Sequence Annotation Sequence Analysis DNA Epithelial Cell Adhesion Molecule Colorectal Neoplasms Hereditary Nonpolyposis DNA-Binding Proteins DNA Repair Enzymes MutS Homolog 2 Protein chemistry Adenomatous Polyposis Coli Homologous recombination MutL Protein Homolog 1 Cell Adhesion Molecules DNA |
| Zdroj: | Human mutation. 36(2) |
| ISSN: | 1098-1004 |
| Popis: | Although most of the pertinent data on the sequence-directed processes leading to genome rearrangements (GRs) have come from studies on somatic tissues, little is known about GRs in the germ line of patients with hereditary disorders. This study aims at identifying DNA motifs and higher order structures of genome architecture, which can result in losses and gains of genetic material in the germ line. We first identified candidate motifs by studying 112 pathogenic germ-line GRs in hereditary colorectal cancer patients, and subsequently created an algorithm, termed recombination type ratio, which correctly predicts the propensity of rearrangements with respect to homologous versus nonhomologous recombination events. |
| Databáze: | OpenAIRE |
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