Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines
Identifieur interne : 000B74 ( Ncbi/Merge ); précédent : 000B73; suivant : 000B75Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines
Auteurs : Jun Mitsui [Japon] ; Yuji Takahashi [Japon] ; Jun Goto [Japon] ; Hiroyuki Tomiyama [Japon] ; Shunpei Ishikawa [Japon] ; Hiroyo Yoshino [Japon] ; Narihiro Minami [Japon] ; David I. Smith [États-Unis] ; Suzanne Lesage [France] ; Hiroyuki Aburatani [Japon] ; Ichizo Nishino [Japon] ; Alexis Brice [France] ; Nobutaka Hattori [Japon] ; Shoji Tsuji [Japon]Source :
- American Journal of Human Genetics [ 0002-9297 ] ; 2010.
Abstract
Common fragile sites (CFSs) are specific chromosome regions that exhibit an increased frequency of breaks when cells are exposed to a DNA-replication inhibitor such as aphidicolin.
Url:
DOI: 10.1016/j.ajhg.2010.06.006
PubMed: 20598272
PubMed Central: 2896763
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and <italic>DMD</italic>
, in Germ Cell and Cancer Cell Lines</title>
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and <italic>DMD</italic>
, in Germ Cell and Cancer Cell Lines</title>
<author><name sortKey="Mitsui, Jun" sort="Mitsui, Jun" uniqKey="Mitsui J" first="Jun" last="Mitsui">Jun Mitsui</name>
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<author><name sortKey="Takahashi, Yuji" sort="Takahashi, Yuji" uniqKey="Takahashi Y" first="Yuji" last="Takahashi">Yuji Takahashi</name>
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</placeName>
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<author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
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<author><name sortKey="Ishikawa, Shunpei" sort="Ishikawa, Shunpei" uniqKey="Ishikawa S" first="Shunpei" last="Ishikawa">Shunpei Ishikawa</name>
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<author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
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<placeName><settlement type="city">Tokyo</settlement>
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<author><name sortKey="Minami, Narihiro" sort="Minami, Narihiro" uniqKey="Minami N" first="Narihiro" last="Minami">Narihiro Minami</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Smith, David I" sort="Smith, David I" uniqKey="Smith D" first="David I." last="Smith">David I. Smith</name>
<affiliation wicri:level="2"><nlm:aff id="aff6">Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55902, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55902</wicri:regionArea>
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<author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
<affiliation wicri:level="1"><nlm:aff id="aff7">CRicm, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, 75651 Paris, CEDEX 13, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CRicm, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, 75651 Paris, CEDEX 13</wicri:regionArea>
<wicri:noRegion>CEDEX 13</wicri:noRegion>
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<author><name sortKey="Aburatani, Hiroyuki" sort="Aburatani, Hiroyuki" uniqKey="Aburatani H" first="Hiroyuki" last="Aburatani">Hiroyuki Aburatani</name>
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</placeName>
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<author><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<country xml:lang="fr">Japon</country>
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<author><name sortKey="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name>
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<country xml:lang="fr">Japon</country>
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<front><div type="abstract" xml:lang="en"><p>Common fragile sites (CFSs) are specific chromosome regions that exhibit an increased frequency of breaks when cells are exposed to a DNA-replication inhibitor such as aphidicolin. <italic>PARK2</italic>
and <italic>DMD,</italic>
the causative genes for autosomal-recessive juvenile Parkinsonism and Duchenne and Becker muscular dystrophy, respectively, are two very large genes that are located within aphidicolin-induced CFSs. Gross rearrangements within these two genes are frequently observed as the causative mutations for these diseases, and similar alterations within the large fragile sites that surround these genes are frequently observed in cancer cells. To elucidate the molecular mechanisms underlying this fragility, we performed a custom-designed high-density comparative genomic hybridization analysis to determine the junction sequences of approximately 500 breakpoints in germ cell lines and cancer cell lines involving <italic>PARK2</italic>
or <italic>DMD</italic>
. The sequence signatures where these breakpoints occur share some similar features both in germ cell lines and in cancer cell lines. Detailed analyses of these structures revealed that microhomologies are predominantly involved in rearrangement processes. Furthermore, breakpoint-clustering regions coincide with the latest-replicating region and with large nuclear-lamina-associated domains and are flanked by the highest-flexibility peaks and R/G band boundaries, suggesting that factors affecting replication timing collectively contribute to the vulnerability for rearrangement in both germ cell and somatic cell lines.</p>
</div>
</front>
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<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id>
<journal-title-group><journal-title>American Journal of Human Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">0002-9297</issn>
<issn pub-type="epub">1537-6605</issn>
<publisher><publisher-name>Elsevier</publisher-name>
</publisher>
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<article-id pub-id-type="doi">10.1016/j.ajhg.2010.06.006</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, <italic>PARK2</italic>
and <italic>DMD</italic>
, in Germ Cell and Cancer Cell Lines</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Mitsui</surname>
<given-names>Jun</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Takahashi</surname>
<given-names>Yuji</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Goto</surname>
<given-names>Jun</given-names>
</name>
<xref rid="aff1" ref-type="aff">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tomiyama</surname>
<given-names>Hiroyuki</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ishikawa</surname>
<given-names>Shunpei</given-names>
</name>
<xref rid="aff3" ref-type="aff">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Yoshino</surname>
<given-names>Hiroyo</given-names>
</name>
<xref rid="aff4" ref-type="aff">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Minami</surname>
<given-names>Narihiro</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Smith</surname>
<given-names>David I.</given-names>
</name>
<xref rid="aff6" ref-type="aff">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lesage</surname>
<given-names>Suzanne</given-names>
</name>
<xref rid="aff7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Aburatani</surname>
<given-names>Hiroyuki</given-names>
</name>
<xref rid="aff8" ref-type="aff">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nishino</surname>
<given-names>Ichizo</given-names>
</name>
<xref rid="aff5" ref-type="aff">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Brice</surname>
<given-names>Alexis</given-names>
</name>
<xref rid="aff7" ref-type="aff">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hattori</surname>
<given-names>Nobutaka</given-names>
</name>
<xref rid="aff2" ref-type="aff">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tsuji</surname>
<given-names>Shoji</given-names>
</name>
<email>tsuji@m.u-tokyo.ac.jp</email>
<xref rid="aff1" ref-type="aff">1</xref>
<xref rid="cor1" ref-type="corresp">∗</xref>
</contrib>
</contrib-group>
<aff id="aff1"><label>1</label>
Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo 113-8655, Japan</aff>
<aff id="aff2"><label>2</label>
Department of Neurology, Juntendo University School of Medicine, Tokyo 113-8421, Japan</aff>
<aff id="aff3"><label>3</label>
Department of Pathology, Graduate School of Medicine, University of Tokyo, Tokyo 113-8655, Japan</aff>
<aff id="aff4"><label>4</label>
Research Institute for Diseases of Old Ages, Juntendo University School of Medicine, Tokyo 113-8421, Japan</aff>
<aff id="aff5"><label>5</label>
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan</aff>
<aff id="aff6"><label>6</label>
Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55902, USA</aff>
<aff id="aff7"><label>7</label>
CRicm, University Pierre et Marie Curie, INSERM, UMR_S975, CNRS UMR 7225, Hospital Pitié-Salpêtrière, 75651 Paris, CEDEX 13, France</aff>
<aff id="aff8"><label>8</label>
Genome Science Division, Research Center for Advanced Science and Technology, University of Tokyo, Tokyo 153-8904, Japan</aff>
<author-notes><corresp id="cor1"><label>∗</label>
Corresponding author <email>tsuji@m.u-tokyo.ac.jp</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><day>09</day>
<month>7</month>
<year>2010</year>
</pub-date>
<volume>87</volume>
<issue>1</issue>
<fpage>75</fpage>
<lpage>89</lpage>
<history><date date-type="received"><day>23</day>
<month>3</month>
<year>2010</year>
</date>
<date date-type="rev-recd"><day>5</day>
<month>5</month>
<year>2010</year>
</date>
<date date-type="accepted"><day>13</day>
<month>6</month>
<year>2010</year>
</date>
</history>
<permissions><copyright-statement>© 2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement>
<copyright-year>2010</copyright-year>
<copyright-holder>The American Society of Human Genetics</copyright-holder>
</permissions>
<abstract><p>Common fragile sites (CFSs) are specific chromosome regions that exhibit an increased frequency of breaks when cells are exposed to a DNA-replication inhibitor such as aphidicolin. <italic>PARK2</italic>
and <italic>DMD,</italic>
the causative genes for autosomal-recessive juvenile Parkinsonism and Duchenne and Becker muscular dystrophy, respectively, are two very large genes that are located within aphidicolin-induced CFSs. Gross rearrangements within these two genes are frequently observed as the causative mutations for these diseases, and similar alterations within the large fragile sites that surround these genes are frequently observed in cancer cells. To elucidate the molecular mechanisms underlying this fragility, we performed a custom-designed high-density comparative genomic hybridization analysis to determine the junction sequences of approximately 500 breakpoints in germ cell lines and cancer cell lines involving <italic>PARK2</italic>
or <italic>DMD</italic>
. The sequence signatures where these breakpoints occur share some similar features both in germ cell lines and in cancer cell lines. Detailed analyses of these structures revealed that microhomologies are predominantly involved in rearrangement processes. Furthermore, breakpoint-clustering regions coincide with the latest-replicating region and with large nuclear-lamina-associated domains and are flanked by the highest-flexibility peaks and R/G band boundaries, suggesting that factors affecting replication timing collectively contribute to the vulnerability for rearrangement in both germ cell and somatic cell lines.</p>
</abstract>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>France</li>
<li>Japon</li>
<li>États-Unis</li>
</country>
<region><li>Minnesota</li>
</region>
<settlement><li>Tokyo</li>
</settlement>
</list>
<tree><country name="Japon"><noRegion><name sortKey="Mitsui, Jun" sort="Mitsui, Jun" uniqKey="Mitsui J" first="Jun" last="Mitsui">Jun Mitsui</name>
</noRegion>
<name sortKey="Aburatani, Hiroyuki" sort="Aburatani, Hiroyuki" uniqKey="Aburatani H" first="Hiroyuki" last="Aburatani">Hiroyuki Aburatani</name>
<name sortKey="Goto, Jun" sort="Goto, Jun" uniqKey="Goto J" first="Jun" last="Goto">Jun Goto</name>
<name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<name sortKey="Ishikawa, Shunpei" sort="Ishikawa, Shunpei" uniqKey="Ishikawa S" first="Shunpei" last="Ishikawa">Shunpei Ishikawa</name>
<name sortKey="Minami, Narihiro" sort="Minami, Narihiro" uniqKey="Minami N" first="Narihiro" last="Minami">Narihiro Minami</name>
<name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name>
<name sortKey="Takahashi, Yuji" sort="Takahashi, Yuji" uniqKey="Takahashi Y" first="Yuji" last="Takahashi">Yuji Takahashi</name>
<name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
<name sortKey="Tsuji, Shoji" sort="Tsuji, Shoji" uniqKey="Tsuji S" first="Shoji" last="Tsuji">Shoji Tsuji</name>
<name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
</country>
<country name="États-Unis"><region name="Minnesota"><name sortKey="Smith, David I" sort="Smith, David I" uniqKey="Smith D" first="David I." last="Smith">David I. Smith</name>
</region>
</country>
<country name="France"><noRegion><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name>
</noRegion>
<name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name>
</country>
</tree>
</affiliations>
</record>
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