High‐Resolution Breakpoint Analysis Provides Evidence for the Sequence‐Directed Nature of Genome Rearrangements in Hereditary Disorders
Identifieur interne : 000701 ( Istex/Curation ); précédent : 000700; suivant : 000702High‐Resolution Breakpoint Analysis Provides Evidence for the Sequence‐Directed Nature of Genome Rearrangements in Hereditary Disorders
Auteurs : Michal B. Kovac [Suisse, Royaume-Uni] ; Monika Kovacova [Slovaquie] ; Hynek Bachraty [Slovaquie] ; Katarina Bachrata [Slovaquie] ; Salvatore Piscuoglio [Suisse, États-Unis] ; Pierre Hutter [Suisse] ; Denisa Ilencikova [Slovaquie] ; Zdena Bartosova [Slovaquie] ; Ian Tomlinson [Royaume-Uni] ; Benno Roethlisberger [Suisse] ; Karl Heinimann [Suisse]Source :
- Human Mutation [ 1059-7794 ] ; 2015-02.
Abstract
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.
This study aimed 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 genomic rearrangements (GRs) in hereditary colorectal cancer patients, and subsequently created an algorithm, termed recombination type ratio (RTR), which correctly predicts the propensity of rearrangements with respect to homologous (hGR) versus nonhomologous recombination (nhGR) events.
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DOI: 10.1002/humu.22734
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<front><div type="abstract">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.</div>
<div type="abstract" xml:lang="en">This study aimed 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 genomic rearrangements (GRs) in hereditary colorectal cancer patients, and subsequently created an algorithm, termed recombination type ratio (RTR), which correctly predicts the propensity of rearrangements with respect to homologous (hGR) versus nonhomologous recombination (nhGR) events.</div>
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