High‐Resolution Breakpoint Analysis Provides Evidence for the Sequence‐Directed Nature of Genome Rearrangements in Hereditary Disorders
Identifieur interne : 001983 ( Main/Exploration ); précédent : 001982; suivant : 001984High‐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.
Url:
DOI: 10.1002/humu.22734
Affiliations:
- Royaume-Uni, Slovaquie, Suisse, États-Unis
- Angleterre, Oxfordshire, État de New York
- New York, Oxford
- Université d'Oxford
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uniqKey="Roethlisberger B" first="Benno" last="Roethlisberger">Benno Roethlisberger</name><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Kantonsspital Aarau, Tellstrasse, Aarau</wicri:regionArea><wicri:noRegion>Aarau</wicri:noRegion></affiliation></author><author><name sortKey="Heinimann, Karl" sort="Heinimann, Karl" uniqKey="Heinimann K" first="Karl" last="Heinimann">Karl Heinimann</name><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Research Group Human Genomics, Department of Biomedicine, University of Basel, Basel</wicri:regionArea><wicri:noRegion>Basel</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Medical Genetics, University Hospital Basel, Basel</wicri:regionArea><wicri:noRegion>Basel</wicri:noRegion></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Suisse</country></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">36</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="250">250</biblScope><biblScope unit="page" to="259">259</biblScope><biblScope unit="page-count">10</biblScope><date type="published" when="2015-02">2015-02</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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></front></TEI><affiliations><list><country><li>Royaume-Uni</li><li>Slovaquie</li><li>Suisse</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Oxfordshire</li><li>État de New York</li></region><settlement><li>New York</li><li>Oxford</li></settlement><orgName><li>Université d'Oxford</li></orgName></list><tree><country name="Suisse"><noRegion><name sortKey="Kovac, Michal B" sort="Kovac, Michal B" uniqKey="Kovac M" first="Michal B." last="Kovac">Michal B. Kovac</name></noRegion><name sortKey="Heinimann, Karl" sort="Heinimann, Karl" uniqKey="Heinimann K" first="Karl" last="Heinimann">Karl Heinimann</name><name sortKey="Heinimann, Karl" sort="Heinimann, Karl" uniqKey="Heinimann K" first="Karl" last="Heinimann">Karl Heinimann</name><name sortKey="Heinimann, Karl" sort="Heinimann, Karl" uniqKey="Heinimann K" first="Karl" last="Heinimann">Karl Heinimann</name><name sortKey="Hutter, Pierre" sort="Hutter, Pierre" uniqKey="Hutter P" first="Pierre" last="Hutter">Pierre Hutter</name><name sortKey="Kovac, Michal B" sort="Kovac, Michal B" uniqKey="Kovac M" first="Michal B." last="Kovac">Michal B. Kovac</name><name sortKey="Kovac, Michal B" sort="Kovac, Michal B" uniqKey="Kovac M" first="Michal B." last="Kovac">Michal B. Kovac</name><name sortKey="Piscuoglio, Salvatore" sort="Piscuoglio, Salvatore" uniqKey="Piscuoglio S" first="Salvatore" last="Piscuoglio">Salvatore Piscuoglio</name><name sortKey="Piscuoglio, Salvatore" sort="Piscuoglio, Salvatore" uniqKey="Piscuoglio S" first="Salvatore" last="Piscuoglio">Salvatore Piscuoglio</name><name sortKey="Roethlisberger, Benno" sort="Roethlisberger, Benno" uniqKey="Roethlisberger B" first="Benno" last="Roethlisberger">Benno Roethlisberger</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Kovac, Michal B" sort="Kovac, Michal B" uniqKey="Kovac M" first="Michal B." last="Kovac">Michal B. Kovac</name></region><name sortKey="Tomlinson, Ian" sort="Tomlinson, Ian" uniqKey="Tomlinson I" first="Ian" last="Tomlinson">Ian Tomlinson</name></country><country name="Slovaquie"><noRegion><name sortKey="Kovacova, Monika" sort="Kovacova, Monika" uniqKey="Kovacova M" first="Monika" last="Kovacova">Monika Kovacova</name></noRegion><name sortKey="Bachrata, Katarina" sort="Bachrata, Katarina" uniqKey="Bachrata K" first="Katarina" last="Bachrata">Katarina Bachrata</name><name sortKey="Bachraty, Hynek" sort="Bachraty, Hynek" uniqKey="Bachraty H" first="Hynek" last="Bachraty">Hynek Bachraty</name><name sortKey="Bartosova, Zdena" sort="Bartosova, Zdena" uniqKey="Bartosova Z" first="Zdena" last="Bartosova">Zdena Bartosova</name><name sortKey="Ilencikova, Denisa" sort="Ilencikova, Denisa" uniqKey="Ilencikova D" first="Denisa" last="Ilencikova">Denisa Ilencikova</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Piscuoglio, Salvatore" sort="Piscuoglio, Salvatore" uniqKey="Piscuoglio S" first="Salvatore" last="Piscuoglio">Salvatore Piscuoglio</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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