AustralieFrV1, Main, Exploration, bibRecord, 005D68

Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module

Identifieur interne : 005D68 ( Main/Exploration ); précédent : 005D67; suivant : 005D69

Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module

Auteurs : Matthew Koss [États-Unis] ; Alexandre Bolze [États-Unis, France] ; Andrea Brendolan [États-Unis, Italie] ; Matilde Saggese [États-Unis] ; Terence D. Capellini [États-Unis] ; Ekaterina Bojilova [États-Unis] ; Bertrand Boisson [États-Unis] ; Owen W. J. Prall [Australie] ; David A. Elliott [Australie] ; Mark Solloway [Australie] ; Elisa Lenti [Italie] ; Chisa Hidaka [États-Unis] ; Ching-Pin Chang [États-Unis] ; Nizar Mahlaoui [France] ; Richard P. Harvey [Australie] ; Jean-Laurent Casanova [États-Unis, France] ; Licia Selleri [États-Unis]

Source :

Developmental cell [ 1534-5807 ] ; 2012.

RBID : Pascal:12-0252890

Descripteurs français

Pascal (Inist)
- Congénital, Souris, Homme, Mutation, Gène suppresseur tumeur, Développement, Asplénie.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Asplenia, Congenital, Development, Human, Mouse, Mutation, Tumor suppressor gene.

Abstract

The molecular determinants of spleen organogenesis and the etiology of isolated congenital asplenia (ICA), a life-threatening human condition, are unknown. We previously reported that Pbx1 deficiency causes organ growth defects including asplenia. Here, we show that mice with splenic mesenchyme-specific Pbx1 inactivation exhibit hyposplenia. Moreover, the loss of Pbx causes downregulation of Nkx2-5 and derepression of p15Ink4b in spleen mesenchymal progenitors, perturbing the cell cycle. Removal of p15Ink4b in Pbx1 spleen-specific mutants partially rescues spleen growth. By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in NKX2-5 showing reduced transactivation in vitro. This study establishes that a Pbx/Nkx2-5/p15 regulatory module is essential for spleen development.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356505

Affiliations:

Le document en format XML

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<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Cell and Developmental Biology, Weill Medical College of Cornell University</s1>
<s2>New York, NY 10065</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>New York, NY 10065</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</s1>
<s2>New York, NY 10065</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>16 aut.</sZ>
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<country>États-Unis</country>
<wicri:noRegion>New York, NY 10065</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prall, Owen W J" sort="Prall, Owen W J" uniqKey="Prall O" first="Owen W. J." last="Prall">Owen W. J. Prall</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>The Victor Chang Cardiac Research Institute, Darlinghurst NSW 2010</s1>
<s3>AUS</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>The Victor Chang Cardiac Research Institute, Darlinghurst NSW 2010</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Elliott, David A" sort="Elliott, David A" uniqKey="Elliott D" first="David A." last="Elliott">David A. Elliott</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>The Victor Chang Cardiac Research Institute, Darlinghurst NSW 2010</s1>
<s3>AUS</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
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<country>Australie</country>
<wicri:noRegion>The Victor Chang Cardiac Research Institute, Darlinghurst NSW 2010</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Solloway, Mark" sort="Solloway, Mark" uniqKey="Solloway M" first="Mark" last="Solloway">Mark Solloway</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>The Victor Chang Cardiac Research Institute, Darlinghurst NSW 2010</s1>
<s3>AUS</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>15 aut.</sZ>
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<country>Australie</country>
<wicri:noRegion>The Victor Chang Cardiac Research Institute, Darlinghurst NSW 2010</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lenti, Elisa" sort="Lenti, Elisa" uniqKey="Lenti E" first="Elisa" last="Lenti">Elisa Lenti</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Laboratory of Lymphoid Organ Development, San Raffaele Scientific Institute</s1>
<s2>20132 Milan</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hidaka, Chisa" sort="Hidaka, Chisa" uniqKey="Hidaka C" first="Chisa" last="Hidaka">Chisa Hidaka</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Laboratory for Soft Tissue Research, Hospital of Special Surgery</s1>
<s2>New York, NY 10021</s2>
<s3>USA</s3>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>New York, NY 10021</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chang, Ching Pin" sort="Chang, Ching Pin" uniqKey="Chang C" first="Ching-Pin" last="Chang">Ching-Pin Chang</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Division of Cardiovascular Medicine, Stanford University School of Medicine</s1>
<s2>Stanford, CA 94305</s2>
<s3>USA</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Stanford, CA 94305</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mahlaoui, Nizar" sort="Mahlaoui, Nizar" uniqKey="Mahlaoui N" first="Nizar" last="Mahlaoui">Nizar Mahlaoui</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Pediatric Hematology-Immunology Unit, Necker Hospital, AP-HP</s1>
<s2>Paris 75015</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75015</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Harvey, Richard P" sort="Harvey, Richard P" uniqKey="Harvey R" first="Richard P." last="Harvey">Richard P. Harvey</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>The Victor Chang Cardiac Research Institute, Darlinghurst NSW 2010</s1>
<s3>AUS</s3>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>The Victor Chang Cardiac Research Institute, Darlinghurst NSW 2010</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="09"><s1>St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales</s1>
<s2>Kensington NSW 2052</s2>
<s3>AUS</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Kensington NSW 2052</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</s1>
<s2>New York, NY 10065</s2>
<s3>USA</s3>
<sZ>2 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>New York, NY 10065</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>University Paris Descartes</s1>
<s2>Paris 75015</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75015</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Pediatric Hematology-Immunology Unit, Necker Hospital, AP-HP</s1>
<s2>Paris 75015</s2>
<s3>FRA</s3>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75015</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Institut National de la Santé et de la Recherche Médicale, U980</s1>
<s2>Paris 75015</s2>
<s3>FRA</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75015</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Selleri, Licia" sort="Selleri, Licia" uniqKey="Selleri L" first="Licia" last="Selleri">Licia Selleri</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Cell and Developmental Biology, Weill Medical College of Cornell University</s1>
<s2>New York, NY 10065</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>New York, NY 10065</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Developmental cell</title>
<title level="j" type="abbreviated">Dev. cell</title>
<idno type="ISSN">1534-5807</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Developmental cell</title>
<title level="j" type="abbreviated">Dev. cell</title>
<idno type="ISSN">1534-5807</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Asplenia</term>
<term>Congenital</term>
<term>Development</term>
<term>Human</term>
<term>Mouse</term>
<term>Mutation</term>
<term>Tumor suppressor gene</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Congénital</term>
<term>Souris</term>
<term>Homme</term>
<term>Mutation</term>
<term>Gène suppresseur tumeur</term>
<term>Développement</term>
<term>Asplénie</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The molecular determinants of spleen organogenesis and the etiology of isolated congenital asplenia (ICA), a life-threatening human condition, are unknown. We previously reported that Pbx1 deficiency causes organ growth defects including asplenia. Here, we show that mice with splenic mesenchyme-specific Pbx1 inactivation exhibit hyposplenia. Moreover, the loss of Pbx causes downregulation of Nkx2-5 and derepression of p15Ink4b in spleen mesenchymal progenitors, perturbing the cell cycle. Removal of p15Ink4b in Pbx1 spleen-specific mutants partially rescues spleen growth. By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in NKX2-5 showing reduced transactivation in vitro. This study establishes that a Pbx/Nkx2-5/p15 regulatory module is essential for spleen development.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Italie</li>
<li>États-Unis</li>
</country>
<region><li>Lombardie</li>
<li>Île-de-France</li>
</region>
<settlement><li>Milan</li>
<li>Paris</li>
</settlement>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Koss, Matthew" sort="Koss, Matthew" uniqKey="Koss M" first="Matthew" last="Koss">Matthew Koss</name>
</noRegion>
<name sortKey="Boisson, Bertrand" sort="Boisson, Bertrand" uniqKey="Boisson B" first="Bertrand" last="Boisson">Bertrand Boisson</name>
<name sortKey="Bojilova, Ekaterina" sort="Bojilova, Ekaterina" uniqKey="Bojilova E" first="Ekaterina" last="Bojilova">Ekaterina Bojilova</name>
<name sortKey="Bolze, Alexandre" sort="Bolze, Alexandre" uniqKey="Bolze A" first="Alexandre" last="Bolze">Alexandre Bolze</name>
<name sortKey="Brendolan, Andrea" sort="Brendolan, Andrea" uniqKey="Brendolan A" first="Andrea" last="Brendolan">Andrea Brendolan</name>
<name sortKey="Capellini, Terence D" sort="Capellini, Terence D" uniqKey="Capellini T" first="Terence D." last="Capellini">Terence D. Capellini</name>
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<name sortKey="Chang, Ching Pin" sort="Chang, Ching Pin" uniqKey="Chang C" first="Ching-Pin" last="Chang">Ching-Pin Chang</name>
<name sortKey="Hidaka, Chisa" sort="Hidaka, Chisa" uniqKey="Hidaka C" first="Chisa" last="Hidaka">Chisa Hidaka</name>
<name sortKey="Saggese, Matilde" sort="Saggese, Matilde" uniqKey="Saggese M" first="Matilde" last="Saggese">Matilde Saggese</name>
<name sortKey="Selleri, Licia" sort="Selleri, Licia" uniqKey="Selleri L" first="Licia" last="Selleri">Licia Selleri</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Bolze, Alexandre" sort="Bolze, Alexandre" uniqKey="Bolze A" first="Alexandre" last="Bolze">Alexandre Bolze</name>
</region>
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name>
<name sortKey="Mahlaoui, Nizar" sort="Mahlaoui, Nizar" uniqKey="Mahlaoui N" first="Nizar" last="Mahlaoui">Nizar Mahlaoui</name>
</country>
<country name="Italie"><region name="Lombardie"><name sortKey="Brendolan, Andrea" sort="Brendolan, Andrea" uniqKey="Brendolan A" first="Andrea" last="Brendolan">Andrea Brendolan</name>
</region>
<name sortKey="Lenti, Elisa" sort="Lenti, Elisa" uniqKey="Lenti E" first="Elisa" last="Lenti">Elisa Lenti</name>
</country>
<country name="Australie"><noRegion><name sortKey="Prall, Owen W J" sort="Prall, Owen W J" uniqKey="Prall O" first="Owen W. J." last="Prall">Owen W. J. Prall</name>
</noRegion>
<name sortKey="Elliott, David A" sort="Elliott, David A" uniqKey="Elliott D" first="David A." last="Elliott">David A. Elliott</name>
<name sortKey="Harvey, Richard P" sort="Harvey, Richard P" uniqKey="Harvey R" first="Richard P." last="Harvey">Richard P. Harvey</name>
<name sortKey="Harvey, Richard P" sort="Harvey, Richard P" uniqKey="Harvey R" first="Richard P." last="Harvey">Richard P. Harvey</name>
<name sortKey="Solloway, Mark" sort="Solloway, Mark" uniqKey="Solloway M" first="Mark" last="Solloway">Mark Solloway</name>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur les relations entre la France et l'Australie

Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module

Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module

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