Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions
Identifieur interne : 001B88 ( Pmc/Checkpoint ); précédent : 001B87; suivant : 001B89Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions
Auteurs : Athar Aziz [Royaume-Uni] ; E. Joanna Baxter [Royaume-Uni] ; Carol Edwards [Royaume-Uni] ; Clara Yujing Cheong [Singapour] ; Mitsuteru Ito [Royaume-Uni] ; Anthony Bench [Royaume-Uni] ; Rebecca Kelley [Royaume-Uni] ; Yvonne Silber [Royaume-Uni] ; Philip A. Beer [Royaume-Uni] ; Keefe Chng [Singapour] ; Marilyn B. Renfree [Australie] ; Kirsten Mcewen [Royaume-Uni] ; Dionne Gray [Royaume-Uni] ; Jyoti Nangalia [Royaume-Uni] ; Ghulam J. Mufti [Royaume-Uni] ; Eva Hellstrom-Lindberg [Suède] ; Jean-Jacques Kiladjian [France] ; Mary Frances Mcmullin [Royaume-Uni] ; Peter J. Campbell [Royaume-Uni] ; Anne C. Ferguson-Smith [Royaume-Uni] ; Anthony R. Green [Royaume-Uni]Source :
- The Journal of Clinical Investigation [ 0021-9738 ] ; 2013.
Abstract
Large regions of recurrent genomic loss are common in cancers; however, with a few well-characterized exceptions, how they contribute to tumor pathogenesis remains largely obscure. Here we identified primate-restricted imprinting of a gene cluster on chromosome 20 in the region commonly deleted in chronic myeloid malignancies. We showed that a single heterozygous 20q deletion consistently resulted in the complete loss of expression of the imprinted genes
Url:
DOI: 10.1172/JCI66113
PubMed: 23543057
PubMed Central: 3635733
Affiliations:
- Australie, France, Royaume-Uni, Singapour, Suède
- Angleterre, Angleterre de l'Est, Grand Londres, Svealand, Victoria (État), Île-de-France
- Cambridge, Londres, Melbourne, Paris, Stockholm
- Université de Cambridge, Université de Melbourne
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PMC:3635733Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions</title>
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</author>
<author><name sortKey="Cheong, Clara Yujing" sort="Cheong, Clara Yujing" uniqKey="Cheong C" first="Clara Yujing" last="Cheong">Clara Yujing Cheong</name>
<affiliation wicri:level="1"><nlm:aff id="JCI66113">A*STAR Singapore Institute for Clinical Sciences, Brenner Centre for Molecular Medicine, Singapore.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Singapour</country>
<wicri:regionArea>A*STAR Singapore Institute for Clinical Sciences, Brenner Centre for Molecular Medicine</wicri:regionArea>
<wicri:noRegion>Brenner Centre for Molecular Medicine</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ito, Mitsuteru" sort="Ito, Mitsuteru" uniqKey="Ito M" first="Mitsuteru" last="Ito">Mitsuteru Ito</name>
<affiliation wicri:level="4"><nlm:aff id="JCI66113">Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bench, Anthony" sort="Bench, Anthony" uniqKey="Bench A" first="Anthony" last="Bench">Anthony Bench</name>
<affiliation wicri:level="1"><nlm:aff id="JCI66113">Department of Hematology, Addenbrooke’s Hospital, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematology, Addenbrooke’s Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kelley, Rebecca" sort="Kelley, Rebecca" uniqKey="Kelley R" first="Rebecca" last="Kelley">Rebecca Kelley</name>
<affiliation><nlm:aff wicri:cut=" and" id="JCI66113">Cambridge Institute for Medical Research and Wellcome Trust/MRC Stem Cell Institute</nlm:aff>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="JCI66113">Department of Hematology, University of Cambridge, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematology, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Silber, Yvonne" sort="Silber, Yvonne" uniqKey="Silber Y" first="Yvonne" last="Silber">Yvonne Silber</name>
<affiliation><nlm:aff wicri:cut=" and" id="JCI66113">Cambridge Institute for Medical Research and Wellcome Trust/MRC Stem Cell Institute</nlm:aff>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="JCI66113">Department of Hematology, University of Cambridge, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematology, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Beer, Philip A" sort="Beer, Philip A" uniqKey="Beer P" first="Philip A." last="Beer">Philip A. Beer</name>
<affiliation><nlm:aff wicri:cut=" and" id="JCI66113">Cambridge Institute for Medical Research and Wellcome Trust/MRC Stem Cell Institute</nlm:aff>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="JCI66113">Department of Hematology, University of Cambridge, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematology, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="JCI66113">Department of Hematology, Addenbrooke’s Hospital, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematology, Addenbrooke’s Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chng, Keefe" sort="Chng, Keefe" uniqKey="Chng K" first="Keefe" last="Chng">Keefe Chng</name>
<affiliation wicri:level="1"><nlm:aff id="JCI66113">A*STAR Singapore Institute for Clinical Sciences, Brenner Centre for Molecular Medicine, Singapore.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Singapour</country>
<wicri:regionArea>A*STAR Singapore Institute for Clinical Sciences, Brenner Centre for Molecular Medicine</wicri:regionArea>
<wicri:noRegion>Brenner Centre for Molecular Medicine</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Renfree, Marilyn B" sort="Renfree, Marilyn B" uniqKey="Renfree M" first="Marilyn B." last="Renfree">Marilyn B. Renfree</name>
<affiliation wicri:level="4"><nlm:aff id="JCI66113">Department of Zoology, University of Melbourne, Melbourne, Victoria, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Department of Zoology, University of Melbourne, Melbourne, Victoria</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mcewen, Kirsten" sort="Mcewen, Kirsten" uniqKey="Mcewen K" first="Kirsten" last="Mcewen">Kirsten Mcewen</name>
<affiliation wicri:level="4"><nlm:aff id="JCI66113">Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gray, Dionne" sort="Gray, Dionne" uniqKey="Gray D" first="Dionne" last="Gray">Dionne Gray</name>
<affiliation wicri:level="4"><nlm:aff id="JCI66113">Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nangalia, Jyoti" sort="Nangalia, Jyoti" uniqKey="Nangalia J" first="Jyoti" last="Nangalia">Jyoti Nangalia</name>
<affiliation><nlm:aff wicri:cut=" and" id="JCI66113">Cambridge Institute for Medical Research and Wellcome Trust/MRC Stem Cell Institute</nlm:aff>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="JCI66113">Department of Hematology, University of Cambridge, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematology, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="JCI66113">Department of Hematology, Addenbrooke’s Hospital, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematology, Addenbrooke’s Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mufti, Ghulam J" sort="Mufti, Ghulam J" uniqKey="Mufti G" first="Ghulam J." last="Mufti">Ghulam J. Mufti</name>
<affiliation wicri:level="3"><nlm:aff id="JCI66113">Department of Hematological Medicine, King’s College London, London, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematological Medicine, King’s College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hellstrom Lindberg, Eva" sort="Hellstrom Lindberg, Eva" uniqKey="Hellstrom Lindberg E" first="Eva" last="Hellstrom-Lindberg">Eva Hellstrom-Lindberg</name>
<affiliation wicri:level="3"><nlm:aff id="JCI66113">Karolinska Institute, Department of Medicine, Division of Hematology, Karolinska University Hospital Huddinge, Stockholm, Sweden.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Suède</country>
<wicri:regionArea>Karolinska Institute, Department of Medicine, Division of Hematology, Karolinska University Hospital Huddinge, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Kiladjian, Jean Jacques" sort="Kiladjian, Jean Jacques" uniqKey="Kiladjian J" first="Jean-Jacques" last="Kiladjian">Jean-Jacques Kiladjian</name>
<affiliation wicri:level="3"><nlm:aff id="JCI66113">Hopital Saint-Louis, AP-HP, Centre d’Investigations Cliniques, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Hopital Saint-Louis, AP-HP, Centre d’Investigations Cliniques, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="JCI66113">Université Paris 7 Denis Diderot, Paris, France.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">France</country>
<wicri:regionArea>Université Paris 7 Denis Diderot, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mcmullin, Mary Frances" sort="Mcmullin, Mary Frances" uniqKey="Mcmullin M" first="Mary Frances" last="Mcmullin">Mary Frances Mcmullin</name>
<affiliation wicri:level="1"><nlm:aff id="JCI66113">Center for Cancer Research and Cell Biology, Queen’s University, Belfast, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Center for Cancer Research and Cell Biology, Queen’s University, Belfast</wicri:regionArea>
<wicri:noRegion>Belfast</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Campbell, Peter J" sort="Campbell, Peter J" uniqKey="Campbell P" first="Peter J." last="Campbell">Peter J. Campbell</name>
<affiliation wicri:level="4"><nlm:aff id="JCI66113">Department of Hematology, University of Cambridge, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematology, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="JCI66113">Department of Hematology, Addenbrooke’s Hospital, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematology, Addenbrooke’s Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="JCI66113">Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Wellcome Trust Sanger Institute, Hinxton, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ferguson Smith, Anne C" sort="Ferguson Smith, Anne C" uniqKey="Ferguson Smith A" first="Anne C." last="Ferguson-Smith">Anne C. Ferguson-Smith</name>
<affiliation wicri:level="4"><nlm:aff id="JCI66113">Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Green, Anthony R" sort="Green, Anthony R" uniqKey="Green A" first="Anthony R." last="Green">Anthony R. Green</name>
<affiliation><nlm:aff wicri:cut=" and" id="JCI66113">Cambridge Institute for Medical Research and Wellcome Trust/MRC Stem Cell Institute</nlm:aff>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="JCI66113">Department of Hematology, University of Cambridge, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematology, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="JCI66113">Department of Hematology, Addenbrooke’s Hospital, Cambridge, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Department of Hematology, Addenbrooke’s Hospital, Cambridge</wicri:regionArea>
<wicri:noRegion>Cambridge</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">The Journal of Clinical Investigation</title>
<idno type="ISSN">0021-9738</idno>
<idno type="eISSN">1558-8238</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Large regions of recurrent genomic loss are common in cancers; however, with a few well-characterized exceptions, how they contribute to tumor pathogenesis remains largely obscure. Here we identified primate-restricted imprinting of a gene cluster on chromosome 20 in the region commonly deleted in chronic myeloid malignancies. We showed that a single heterozygous 20q deletion consistently resulted in the complete loss of expression of the imprinted genes <italic>L3MBTL1</italic>
and <italic>SGK2</italic>
, indicative of a pathogenetic role for loss of the active paternally inherited locus. Concomitant loss of both <italic>L3MBTL1</italic>
and <italic>SGK2</italic>
dysregulated erythropoiesis and megakaryopoiesis, 2 lineages commonly affected in chronic myeloid malignancies, with distinct consequences in each lineage. We demonstrated that L3MBTL1 and SGK2 collaborated in the transcriptional regulation of <italic>MYC</italic>
by influencing different aspects of chromatin structure. L3MBTL1 is known to regulate nucleosomal compaction, and we here showed that SGK2 inactivated BRG1, a key ATP-dependent helicase within the SWI/SNF complex that regulates nucleosomal positioning. These results demonstrate a link between an imprinted gene cluster and malignancy, reveal a new pathogenetic mechanism associated with acquired regions of genomic loss, and underline the complex molecular and cellular consequences of “simple” cancer-associated chromosome deletions.
</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Clin Invest</journal-id>
<journal-id journal-id-type="iso-abbrev">J. Clin. Invest</journal-id>
<journal-id journal-id-type="publisher-id">J CLIN INVEST</journal-id>
<journal-title-group><journal-title>The Journal of Clinical Investigation</journal-title>
</journal-title-group>
<issn pub-type="ppub">0021-9738</issn>
<issn pub-type="epub">1558-8238</issn>
<publisher><publisher-name>American Society for Clinical Investigation</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">23543057</article-id>
<article-id pub-id-type="pmc">3635733</article-id>
<article-id pub-id-type="publisher-id">66113</article-id>
<article-id pub-id-type="doi">10.1172/JCI66113</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Cooperativity of imprinted genes inactivated by acquired chromosome 20q deletions</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Aziz</surname>
<given-names>Athar</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">1</xref>
<xref ref-type="aff" rid="JCI66113">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Baxter</surname>
<given-names>E. Joanna</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">1</xref>
<xref ref-type="aff" rid="JCI66113">2</xref>
<xref ref-type="aff" rid="JCI66113">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Edwards</surname>
<given-names>Carol</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cheong</surname>
<given-names>Clara Yujing</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ito</surname>
<given-names>Mitsuteru</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bench</surname>
<given-names>Anthony</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kelley</surname>
<given-names>Rebecca</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">1</xref>
<xref ref-type="aff" rid="JCI66113">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Silber</surname>
<given-names>Yvonne</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">1</xref>
<xref ref-type="aff" rid="JCI66113">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Beer</surname>
<given-names>Philip A.</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">1</xref>
<xref ref-type="aff" rid="JCI66113">2</xref>
<xref ref-type="aff" rid="JCI66113">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Chng</surname>
<given-names>Keefe</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Renfree</surname>
<given-names>Marilyn B.</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>McEwen</surname>
<given-names>Kirsten</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gray</surname>
<given-names>Dionne</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nangalia</surname>
<given-names>Jyoti</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">1</xref>
<xref ref-type="aff" rid="JCI66113">2</xref>
<xref ref-type="aff" rid="JCI66113">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mufti</surname>
<given-names>Ghulam J.</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hellstrom-Lindberg</surname>
<given-names>Eva</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kiladjian</surname>
<given-names>Jean-Jacques</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">9</xref>
<xref ref-type="aff" rid="JCI66113">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>McMullin</surname>
<given-names>Mary Frances</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Campbell</surname>
<given-names>Peter J.</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">2</xref>
<xref ref-type="aff" rid="JCI66113">3</xref>
<xref ref-type="aff" rid="JCI66113">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ferguson-Smith</surname>
<given-names>Anne C.</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Green</surname>
<given-names>Anthony R.</given-names>
</name>
<xref ref-type="aff" rid="JCI66113">1</xref>
<xref ref-type="aff" rid="JCI66113">2</xref>
<xref ref-type="aff" rid="JCI66113">3</xref>
</contrib>
</contrib-group>
<aff id="JCI66113"><label>1</label>
Cambridge Institute for Medical Research and Wellcome Trust/MRC Stem Cell Institute and<label>2</label>
Department of Hematology, University of Cambridge, Cambridge, United Kingdom.<label>3</label>
Department of Hematology, Addenbrooke’s Hospital, Cambridge, United Kingdom.<label>4</label>
Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge, United Kingdom.<label>5</label>
A*STAR Singapore Institute for Clinical Sciences, Brenner Centre for Molecular Medicine, Singapore.<label>6</label>
Department of Zoology, University of Melbourne, Melbourne, Victoria, Australia.<label>7</label>
Department of Hematological Medicine, King’s College London, London, United Kingdom.<label>8</label>
Karolinska Institute, Department of Medicine, Division of Hematology, Karolinska University Hospital Huddinge, Stockholm, Sweden.<label>9</label>
Hopital Saint-Louis, AP-HP, Centre d’Investigations Cliniques, Paris, France.<label>10</label>
Université Paris 7 Denis Diderot, Paris, France.<label>11</label>
Center for Cancer Research and Cell Biology, Queen’s University, Belfast, United Kingdom.<label>12</label>
Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.</aff>
<author-notes><corresp>Address correspondence to: Anthony R. Green, Department of Hematology, Cambridge Institute for Medical Research, Hills Road, Cambridge CB2 0XY, United Kingdom. Phone: 44.1223.762665; Fax: 44.1223.762670; E-mail:
<email>arg1000@cam.ac.uk</email>
.
</corresp>
<fn><p><bold>Authorship note:</bold>
Athar Aziz and E. Joanna Baxter are co–first authors. Anne C. Ferguson-Smith and Anthony R. Green are co–senior authors.
</p>
</fn>
</author-notes>
<pub-date pub-type="epub"><day>1</day>
<month>4</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="ppub"><day>1</day>
<month>5</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>1</day>
<month>4</month>
<year>2013</year>
</pub-date>
<pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
. </pmc-comment>
<volume>123</volume>
<issue>5</issue>
<fpage>2169</fpage>
<lpage>2182</lpage>
<history><date date-type="received"><day>31</day>
<month>7</month>
<year>2012</year>
</date>
<date date-type="accepted"><day>7</day>
<month>2</month>
<year>2013</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2013, American Society for Clinical Investigation</copyright-statement>
<copyright-year>2013</copyright-year>
</permissions>
<abstract><p>Large regions of recurrent genomic loss are common in cancers; however, with a few well-characterized exceptions, how they contribute to tumor pathogenesis remains largely obscure. Here we identified primate-restricted imprinting of a gene cluster on chromosome 20 in the region commonly deleted in chronic myeloid malignancies. We showed that a single heterozygous 20q deletion consistently resulted in the complete loss of expression of the imprinted genes <italic>L3MBTL1</italic>
and <italic>SGK2</italic>
, indicative of a pathogenetic role for loss of the active paternally inherited locus. Concomitant loss of both <italic>L3MBTL1</italic>
and <italic>SGK2</italic>
dysregulated erythropoiesis and megakaryopoiesis, 2 lineages commonly affected in chronic myeloid malignancies, with distinct consequences in each lineage. We demonstrated that L3MBTL1 and SGK2 collaborated in the transcriptional regulation of <italic>MYC</italic>
by influencing different aspects of chromatin structure. L3MBTL1 is known to regulate nucleosomal compaction, and we here showed that SGK2 inactivated BRG1, a key ATP-dependent helicase within the SWI/SNF complex that regulates nucleosomal positioning. These results demonstrate a link between an imprinted gene cluster and malignancy, reveal a new pathogenetic mechanism associated with acquired regions of genomic loss, and underline the complex molecular and cellular consequences of “simple” cancer-associated chromosome deletions.
</p>
</abstract>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>Singapour</li>
<li>Suède</li>
</country>
<region><li>Angleterre</li>
<li>Angleterre de l'Est</li>
<li>Grand Londres</li>
<li>Svealand</li>
<li>Victoria (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Cambridge</li>
<li>Londres</li>
<li>Melbourne</li>
<li>Paris</li>
<li>Stockholm</li>
</settlement>
<orgName><li>Université de Cambridge</li>
<li>Université de Melbourne</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Aziz, Athar" sort="Aziz, Athar" uniqKey="Aziz A" first="Athar" last="Aziz">Athar Aziz</name>
</region>
<name sortKey="Baxter, E Joanna" sort="Baxter, E Joanna" uniqKey="Baxter E" first="E. Joanna" last="Baxter">E. Joanna Baxter</name>
<name sortKey="Baxter, E Joanna" sort="Baxter, E Joanna" uniqKey="Baxter E" first="E. Joanna" last="Baxter">E. Joanna Baxter</name>
<name sortKey="Beer, Philip A" sort="Beer, Philip A" uniqKey="Beer P" first="Philip A." last="Beer">Philip A. Beer</name>
<name sortKey="Beer, Philip A" sort="Beer, Philip A" uniqKey="Beer P" first="Philip A." last="Beer">Philip A. Beer</name>
<name sortKey="Bench, Anthony" sort="Bench, Anthony" uniqKey="Bench A" first="Anthony" last="Bench">Anthony Bench</name>
<name sortKey="Campbell, Peter J" sort="Campbell, Peter J" uniqKey="Campbell P" first="Peter J." last="Campbell">Peter J. Campbell</name>
<name sortKey="Campbell, Peter J" sort="Campbell, Peter J" uniqKey="Campbell P" first="Peter J." last="Campbell">Peter J. Campbell</name>
<name sortKey="Campbell, Peter J" sort="Campbell, Peter J" uniqKey="Campbell P" first="Peter J." last="Campbell">Peter J. Campbell</name>
<name sortKey="Edwards, Carol" sort="Edwards, Carol" uniqKey="Edwards C" first="Carol" last="Edwards">Carol Edwards</name>
<name sortKey="Ferguson Smith, Anne C" sort="Ferguson Smith, Anne C" uniqKey="Ferguson Smith A" first="Anne C." last="Ferguson-Smith">Anne C. Ferguson-Smith</name>
<name sortKey="Gray, Dionne" sort="Gray, Dionne" uniqKey="Gray D" first="Dionne" last="Gray">Dionne Gray</name>
<name sortKey="Green, Anthony R" sort="Green, Anthony R" uniqKey="Green A" first="Anthony R." last="Green">Anthony R. Green</name>
<name sortKey="Green, Anthony R" sort="Green, Anthony R" uniqKey="Green A" first="Anthony R." last="Green">Anthony R. Green</name>
<name sortKey="Ito, Mitsuteru" sort="Ito, Mitsuteru" uniqKey="Ito M" first="Mitsuteru" last="Ito">Mitsuteru Ito</name>
<name sortKey="Kelley, Rebecca" sort="Kelley, Rebecca" uniqKey="Kelley R" first="Rebecca" last="Kelley">Rebecca Kelley</name>
<name sortKey="Mcewen, Kirsten" sort="Mcewen, Kirsten" uniqKey="Mcewen K" first="Kirsten" last="Mcewen">Kirsten Mcewen</name>
<name sortKey="Mcmullin, Mary Frances" sort="Mcmullin, Mary Frances" uniqKey="Mcmullin M" first="Mary Frances" last="Mcmullin">Mary Frances Mcmullin</name>
<name sortKey="Mufti, Ghulam J" sort="Mufti, Ghulam J" uniqKey="Mufti G" first="Ghulam J." last="Mufti">Ghulam J. Mufti</name>
<name sortKey="Nangalia, Jyoti" sort="Nangalia, Jyoti" uniqKey="Nangalia J" first="Jyoti" last="Nangalia">Jyoti Nangalia</name>
<name sortKey="Nangalia, Jyoti" sort="Nangalia, Jyoti" uniqKey="Nangalia J" first="Jyoti" last="Nangalia">Jyoti Nangalia</name>
<name sortKey="Silber, Yvonne" sort="Silber, Yvonne" uniqKey="Silber Y" first="Yvonne" last="Silber">Yvonne Silber</name>
</country>
<country name="Singapour"><noRegion><name sortKey="Cheong, Clara Yujing" sort="Cheong, Clara Yujing" uniqKey="Cheong C" first="Clara Yujing" last="Cheong">Clara Yujing Cheong</name>
</noRegion>
<name sortKey="Chng, Keefe" sort="Chng, Keefe" uniqKey="Chng K" first="Keefe" last="Chng">Keefe Chng</name>
</country>
<country name="Australie"><region name="Victoria (État)"><name sortKey="Renfree, Marilyn B" sort="Renfree, Marilyn B" uniqKey="Renfree M" first="Marilyn B." last="Renfree">Marilyn B. Renfree</name>
</region>
</country>
<country name="Suède"><region name="Svealand"><name sortKey="Hellstrom Lindberg, Eva" sort="Hellstrom Lindberg, Eva" uniqKey="Hellstrom Lindberg E" first="Eva" last="Hellstrom-Lindberg">Eva Hellstrom-Lindberg</name>
</region>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Kiladjian, Jean Jacques" sort="Kiladjian, Jean Jacques" uniqKey="Kiladjian J" first="Jean-Jacques" last="Kiladjian">Jean-Jacques Kiladjian</name>
</region>
<name sortKey="Kiladjian, Jean Jacques" sort="Kiladjian, Jean Jacques" uniqKey="Kiladjian J" first="Jean-Jacques" last="Kiladjian">Jean-Jacques Kiladjian</name>
</country>
</tree>
</affiliations>
</record>
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