Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP
Identifieur interne : 00C442 ( Main/Exploration ); précédent : 00C441; suivant : 00C443Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP
Auteurs : Judith Lopes [France] ; Sandrine Tardieu [France] ; Kaisa Silander [Finlande] ; Ian Blair [Australie] ; Antoon Vandenberghe [France] ; Francesco Palau [Espagne] ; Merle Ruberg [France] ; Alexis Brice [France] ; Eric Leguern [France]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 1999-11.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
Abstract
Rearrangements in 17p11.2, responsible for the 1.5 Mb duplications and deletions associated, respectively, with autosomal dominant Charcot-Marie-Tooth type 1A disease (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are a suitable model for studying human recombination. Rearrangements in 17p11.2 are caused by unequal crossing-over between two homologous 24 kb sequences, the CMT1A-REPs, that flank the disease locus and occur in most cases within a 1.7 kb hotspot. We sequenced this hotspot in 28 de novo patients (25 CMT1A and three HNPP), in order to localize precisely, at the DNA sequence level, the crossing-overs. We show that some chimeric CMT1A-REPs in de novo patients (10/28) present conversion of DNA segments associated with the crossing-over. These rearrangements can be explained by the double-strand break (DSB) repair model described in yeast. Fine mapping of the de novo rearrangements provided evidence that the successive steps of this model, heteroduplex DNA formation, mismatch correction and gene conversion, occurred in patients. Furthermore, the model explains 17p11.2 recombinations between chromosome homologues as well as between sister chromatids. In addition, defective mismatch repair of the heteroduplex DNA, observed in two patients, resulted in two heterozygous chimeric CMT1A-REPs which can be explained, as in yeast, by post-meiotic segregation. This work supports the hypothesis that the DSB repair model of DNA exchange may apply universally from yeasts to humans.
Url:
DOI: 10.1093/hmg/8.12.2285
Affiliations:
- Australie, Espagne, Finlande, France
- Auvergne-Rhône-Alpes, Finlande occidentale, Nouvelle-Galles du Sud, Rhône-Alpes, Île-de-France
- Lyon, Paris, Sydney, Turku
- Université de Sydney, Université de Turku
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13</wicri:noRegion><wicri:noRegion>75651 Paris cedex 13</wicri:noRegion></affiliation></author><author><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>INSERM U289, Hôpital de la Salpêtrière, 47 Boulevard de l'Hôpital, 75651 Paris cedex 13</wicri:regionArea><wicri:noRegion>75651 Paris cedex 13</wicri:noRegion><wicri:noRegion>75651 Paris cedex 13</wicri:noRegion></affiliation><affiliation wicri:level="1"><country wicri:rule="url">France</country></affiliation><affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation wicri:level="1"><country wicri:rule="url">France</country></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><title level="j" type="abbrev">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="1999-11">1999-11</date><biblScope unit="volume">8</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="2285">2285</biblScope><biblScope unit="page" to="2292">2292</biblScope></imprint><idno type="ISSN">0964-6906</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case study</term><term>Charcot Marie Tooth disease</term><term>Chromosome E17</term><term>DNA</term><term>Double strand break</term><term>Gene rearrangement</term><term>Genetic mapping</term><term>Human</term><term>Mutation</term><term>Nucleotide sequence</term><term>Repair</term><term>Sensorimotor peripheral polyneuropathy</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Amyotrophie Charcot Marie Tooth</term><term>Carte génétique</term><term>Cassure bicaténaire</term><term>Chromosome E17</term><term>DNA</term><term>Etude cas</term><term>Homme</term><term>Mutation</term><term>Polyneuropathie périphérique sensitivomotrice</term><term>Réarrangement génique</term><term>Réparation</term><term>Séquence nucléotide</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">Rearrangements in 17p11.2, responsible for the 1.5 Mb duplications and deletions associated, respectively, with autosomal dominant Charcot-Marie-Tooth type 1A disease (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are a suitable model for studying human recombination. Rearrangements in 17p11.2 are caused by unequal crossing-over between two homologous 24 kb sequences, the CMT1A-REPs, that flank the disease locus and occur in most cases within a 1.7 kb hotspot. We sequenced this hotspot in 28 de novo patients (25 CMT1A and three HNPP), in order to localize precisely, at the DNA sequence level, the crossing-overs. We show that some chimeric CMT1A-REPs in de novo patients (10/28) present conversion of DNA segments associated with the crossing-over. These rearrangements can be explained by the double-strand break (DSB) repair model described in yeast. Fine mapping of the de novo rearrangements provided evidence that the successive steps of this model, heteroduplex DNA formation, mismatch correction and gene conversion, occurred in patients. Furthermore, the model explains 17p11.2 recombinations between chromosome homologues as well as between sister chromatids. In addition, defective mismatch repair of the heteroduplex DNA, observed in two patients, resulted in two heterozygous chimeric CMT1A-REPs which can be explained, as in yeast, by post-meiotic segregation. This work supports the hypothesis that the DSB repair model of DNA exchange may apply universally from yeasts to humans.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Espagne</li><li>Finlande</li><li>France</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Finlande occidentale</li><li>Nouvelle-Galles du Sud</li><li>Rhône-Alpes</li><li>Île-de-France</li></region><settlement><li>Lyon</li><li>Paris</li><li>Sydney</li><li>Turku</li></settlement><orgName><li>Université de Sydney</li><li>Université de Turku</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Lopes, Judith" sort="Lopes, Judith" uniqKey="Lopes J" first="Judith" last="Lopes">Judith Lopes</name></region><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name><name sortKey="Ruberg, Merle" sort="Ruberg, Merle" uniqKey="Ruberg M" first="Merle" last="Ruberg">Merle Ruberg</name><name sortKey="Tardieu, Sandrine" sort="Tardieu, Sandrine" uniqKey="Tardieu S" first="Sandrine" last="Tardieu">Sandrine Tardieu</name><name sortKey="Vandenberghe, Antoon" sort="Vandenberghe, Antoon" uniqKey="Vandenberghe A" first="Antoon" last="Vandenberghe">Antoon Vandenberghe</name></country><country name="Finlande"><region name="Finlande occidentale"><name sortKey="Silander, Kaisa" sort="Silander, Kaisa" uniqKey="Silander K" first="Kaisa" last="Silander">Kaisa Silander</name></region></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Blair, Ian" sort="Blair, Ian" uniqKey="Blair I" first="Ian" last="Blair">Ian Blair</name></region></country><country name="Espagne"><noRegion><name sortKey="Palau, Francesco" sort="Palau, Francesco" uniqKey="Palau F" first="Francesco" last="Palau">Francesco Palau</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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