GATA2 is required for lymphatic vessel valve development and maintenance
Identifieur interne : 001D52 ( Main/Curation ); précédent : 001D51; suivant : 001D53GATA2 is required for lymphatic vessel valve development and maintenance
Auteurs : Jan Kazenwadel [Australie] ; Kelly L. Betterman [Australie] ; Chan-Eng Chong [Australie] ; Philippa H. Stokes [Australie] ; Young K. Lee [Australie] ; Genevieve A. Secker [Australie] ; Yan Agalarov [Suisse] ; Cansaran Saygili Demir [Suisse] ; David M. Lawrence [Australie] ; Drew L. Sutton [Australie] ; Sebastien P. Tabruyn [Australie] ; Naoyuki Miura [Japon] ; Marjo Salminen [Finlande] ; Tatiana V. Petrova [Suisse] ; Jacqueline M. Matthews [Australie] ; Christopher N. Hahn [Australie] ; Hamish S. Scott [Australie] ; Natasha L. Harvey [Australie]Source :
- The Journal of Clinical Investigation [ 0021-9738 ] ; 2015.
Descripteurs français
- KwdFr :
- Animaux, Cellules K562, Délétion de gène, Facteur de transcription GATA-2 (génétique), Facteur de transcription GATA-2 (métabolisme), Facteurs de transcription Forkhead (génétique), Facteurs de transcription Forkhead (métabolisme), Facteurs de transcription NFATC (génétique), Facteurs de transcription NFATC (métabolisme), Humains, Lymphoedème (anatomopathologie), Lymphoedème (embryologie), Lymphoedème (génétique), Mutation, Protéines suppresseurs de tumeurs (génétique), Protéines suppresseurs de tumeurs (métabolisme), Protéines à homéodomaine (génétique), Protéines à homéodomaine (métabolisme), Souris, Vaisseaux lymphatiques (anatomopathologie), Vaisseaux lymphatiques (embryologie), Éléments activateurs (génétique).
- MESH :
- anatomopathologie : Lymphoedème, Vaisseaux lymphatiques.
- embryologie : Lymphoedème, Vaisseaux lymphatiques.
- génétique : Facteur de transcription GATA-2, Facteurs de transcription Forkhead, Facteurs de transcription NFATC, Lymphoedème, Protéines suppresseurs de tumeurs, Protéines à homéodomaine.
- métabolisme : Facteur de transcription GATA-2, Facteurs de transcription Forkhead, Facteurs de transcription NFATC, Protéines suppresseurs de tumeurs, Protéines à homéodomaine.
- Animaux, Cellules K562, Délétion de gène, Humains, Mutation, Souris, Éléments activateurs (génétique).
English descriptors
- KwdEn :
- Animals, Enhancer Elements, Genetic, Forkhead Transcription Factors (genetics), Forkhead Transcription Factors (metabolism), GATA2 Transcription Factor (genetics), GATA2 Transcription Factor (metabolism), Gene Deletion, Homeodomain Proteins (genetics), Homeodomain Proteins (metabolism), Humans, K562 Cells, Lymphatic Vessels (embryology), Lymphatic Vessels (pathology), Lymphedema (embryology), Lymphedema (genetics), Lymphedema (pathology), Mice, Mutation, NFATC Transcription Factors (genetics), NFATC Transcription Factors (metabolism), Tumor Suppressor Proteins (genetics), Tumor Suppressor Proteins (metabolism).
- MESH :
- chemical , genetics : Forkhead Transcription Factors, GATA2 Transcription Factor, Homeodomain Proteins, NFATC Transcription Factors, Tumor Suppressor Proteins.
- chemical , metabolism : Forkhead Transcription Factors, GATA2 Transcription Factor, Homeodomain Proteins, NFATC Transcription Factors, Tumor Suppressor Proteins.
- embryology : Lymphatic Vessels, Lymphedema.
- genetics : Lymphedema.
- pathology : Lymphatic Vessels, Lymphedema.
- Animals, Enhancer Elements, Genetic, Gene Deletion, Humans, K562 Cells, Mice, Mutation.
Abstract
Heterozygous germline mutations in the zinc finger transcription factor
Url:
DOI: 10.1172/JCI78888
PubMed: 26214525
PubMed Central: 4563742
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PMC:4563742Le document en format XML
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<author><name sortKey="Demir, Cansaran Saygili" sort="Demir, Cansaran Saygili" uniqKey="Demir C" first="Cansaran Saygili" last="Demir">Cansaran Saygili Demir</name>
<affiliation wicri:level="3"><nlm:aff id="A4">Department of Oncology, University Hospital of Lausanne and Department of Biochemistry, University of Lausanne, Lausanne, Switzerland.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Suisse</country>
<wicri:regionArea>Department of Oncology, University Hospital of Lausanne and Department of Biochemistry, University of Lausanne, Lausanne</wicri:regionArea>
<placeName><settlement type="city">Lausanne</settlement>
<region nuts="3" type="region">Canton de Vaud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lawrence, David M" sort="Lawrence, David M" uniqKey="Lawrence D" first="David M." last="Lawrence">David M. Lawrence</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Australian Cancer Research Foundation (ACRF) Cancer Genomics Facility, Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Australian Cancer Research Foundation (ACRF) Cancer Genomics Facility, Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A6">School of Molecular and Biomedical Bioscience, University of Adelaide, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>School of Molecular and Biomedical Bioscience, University of Adelaide, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sutton, Drew L" sort="Sutton, Drew L" uniqKey="Sutton D" first="Drew L." last="Sutton">Drew L. Sutton</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tabruyn, Sebastien P" sort="Tabruyn, Sebastien P" uniqKey="Tabruyn S" first="Sebastien P." last="Tabruyn">Sebastien P. Tabruyn</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Miura, Naoyuki" sort="Miura, Naoyuki" uniqKey="Miura N" first="Naoyuki" last="Miura">Naoyuki Miura</name>
<affiliation wicri:level="1"><nlm:aff id="A7">Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Japon</country>
<wicri:regionArea>Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu</wicri:regionArea>
<wicri:noRegion>Hamamatsu</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Salminen, Marjo" sort="Salminen, Marjo" uniqKey="Salminen M" first="Marjo" last="Salminen">Marjo Salminen</name>
<affiliation wicri:level="4"><nlm:aff id="A8">Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Finlande</country>
<wicri:regionArea>Department of Veterinary Biosciences, University of Helsinki, Helsinki</wicri:regionArea>
<orgName type="university">Université d'Helsinki</orgName>
<placeName><settlement type="city">Helsinki</settlement>
<region type="région" nuts="2">Uusimaa</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Petrova, Tatiana V" sort="Petrova, Tatiana V" uniqKey="Petrova T" first="Tatiana V." last="Petrova">Tatiana V. Petrova</name>
<affiliation wicri:level="3"><nlm:aff id="A4">Department of Oncology, University Hospital of Lausanne and Department of Biochemistry, University of Lausanne, Lausanne, Switzerland.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Suisse</country>
<wicri:regionArea>Department of Oncology, University Hospital of Lausanne and Department of Biochemistry, University of Lausanne, Lausanne</wicri:regionArea>
<placeName><settlement type="city">Lausanne</settlement>
<region nuts="3" type="region">Canton de Vaud</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A9">École Polytechnique Fédérale de Lausanne (EPFL), Swiss Institute for Experimental Cancer Research (ISREC), Lausanne, Switzerland.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Suisse</country>
<wicri:regionArea>École Polytechnique Fédérale de Lausanne (EPFL), Swiss Institute for Experimental Cancer Research (ISREC), Lausanne</wicri:regionArea>
<placeName><settlement type="city">Lausanne</settlement>
<region nuts="3" type="region">Canton de Vaud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Matthews, Jacqueline M" sort="Matthews, Jacqueline M" uniqKey="Matthews J" first="Jacqueline M." last="Matthews">Jacqueline M. Matthews</name>
<affiliation wicri:level="1"><nlm:aff id="A3">School of Molecular Bioscience, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>School of Molecular Bioscience, University of Sydney, Sydney, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hahn, Christopher N" sort="Hahn, Christopher N" uniqKey="Hahn C" first="Christopher N." last="Hahn">Christopher N. Hahn</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Centre for Cancer Biology, University of South Australia and Department of Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Centre for Cancer Biology, University of South Australia and Department of Molecular Pathology, SA Pathology, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A10">School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Scott, Hamish S" sort="Scott, Hamish S" uniqKey="Scott H" first="Hamish S." last="Scott">Hamish S. Scott</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Centre for Cancer Biology, University of South Australia and Department of Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Centre for Cancer Biology, University of South Australia and Department of Molecular Pathology, SA Pathology, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A5">Australian Cancer Research Foundation (ACRF) Cancer Genomics Facility, Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Australian Cancer Research Foundation (ACRF) Cancer Genomics Facility, Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A6">School of Molecular and Biomedical Bioscience, University of Adelaide, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>School of Molecular and Biomedical Bioscience, University of Adelaide, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A10">School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Harvey, Natasha L" sort="Harvey, Natasha L" uniqKey="Harvey N" first="Natasha L." last="Harvey">Natasha L. Harvey</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A10">School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, Adelaide, South Australia</wicri:regionArea>
<wicri:noRegion>South Australia</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="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term>
<term>Enhancer Elements, Genetic</term>
<term>Forkhead Transcription Factors (genetics)</term>
<term>Forkhead Transcription Factors (metabolism)</term>
<term>GATA2 Transcription Factor (genetics)</term>
<term>GATA2 Transcription Factor (metabolism)</term>
<term>Gene Deletion</term>
<term>Homeodomain Proteins (genetics)</term>
<term>Homeodomain Proteins (metabolism)</term>
<term>Humans</term>
<term>K562 Cells</term>
<term>Lymphatic Vessels (embryology)</term>
<term>Lymphatic Vessels (pathology)</term>
<term>Lymphedema (embryology)</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (pathology)</term>
<term>Mice</term>
<term>Mutation</term>
<term>NFATC Transcription Factors (genetics)</term>
<term>NFATC Transcription Factors (metabolism)</term>
<term>Tumor Suppressor Proteins (genetics)</term>
<term>Tumor Suppressor Proteins (metabolism)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term>
<term>Cellules K562</term>
<term>Délétion de gène</term>
<term>Facteur de transcription GATA-2 (génétique)</term>
<term>Facteur de transcription GATA-2 (métabolisme)</term>
<term>Facteurs de transcription Forkhead (génétique)</term>
<term>Facteurs de transcription Forkhead (métabolisme)</term>
<term>Facteurs de transcription NFATC (génétique)</term>
<term>Facteurs de transcription NFATC (métabolisme)</term>
<term>Humains</term>
<term>Lymphoedème (anatomopathologie)</term>
<term>Lymphoedème (embryologie)</term>
<term>Lymphoedème (génétique)</term>
<term>Mutation</term>
<term>Protéines suppresseurs de tumeurs (génétique)</term>
<term>Protéines suppresseurs de tumeurs (métabolisme)</term>
<term>Protéines à homéodomaine (génétique)</term>
<term>Protéines à homéodomaine (métabolisme)</term>
<term>Souris</term>
<term>Vaisseaux lymphatiques (anatomopathologie)</term>
<term>Vaisseaux lymphatiques (embryologie)</term>
<term>Éléments activateurs (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term>
<term>GATA2 Transcription Factor</term>
<term>Homeodomain Proteins</term>
<term>NFATC Transcription Factors</term>
<term>Tumor Suppressor Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Forkhead Transcription Factors</term>
<term>GATA2 Transcription Factor</term>
<term>Homeodomain Proteins</term>
<term>NFATC Transcription Factors</term>
<term>Tumor Suppressor Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Lymphoedème</term>
<term>Vaisseaux lymphatiques</term>
</keywords>
<keywords scheme="MESH" qualifier="embryologie" xml:lang="fr"><term>Lymphoedème</term>
<term>Vaisseaux lymphatiques</term>
</keywords>
<keywords scheme="MESH" qualifier="embryology" xml:lang="en"><term>Lymphatic Vessels</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteur de transcription GATA-2</term>
<term>Facteurs de transcription Forkhead</term>
<term>Facteurs de transcription NFATC</term>
<term>Lymphoedème</term>
<term>Protéines suppresseurs de tumeurs</term>
<term>Protéines à homéodomaine</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Facteur de transcription GATA-2</term>
<term>Facteurs de transcription Forkhead</term>
<term>Facteurs de transcription NFATC</term>
<term>Protéines suppresseurs de tumeurs</term>
<term>Protéines à homéodomaine</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphatic Vessels</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Animals</term>
<term>Enhancer Elements, Genetic</term>
<term>Gene Deletion</term>
<term>Humans</term>
<term>K562 Cells</term>
<term>Mice</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Animaux</term>
<term>Cellules K562</term>
<term>Délétion de gène</term>
<term>Humains</term>
<term>Mutation</term>
<term>Souris</term>
<term>Éléments activateurs (génétique)</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Heterozygous germline mutations in the zinc finger transcription factor <italic>GATA2</italic>
have recently been shown to underlie a range of clinical phenotypes, including Emberger syndrome, a disorder characterized by lymphedema and predisposition to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML). Despite well-defined roles in hematopoiesis, the functions of GATA2 in the lymphatic vasculature and the mechanisms by which <italic>GATA2</italic>
mutations result in lymphedema have not been characterized. Here, we have provided a molecular explanation for lymphedema predisposition in a subset of patients with germline <italic>GATA2</italic>
mutations. Specifically, we demonstrated that Emberger-associated <italic>GATA2</italic>
missense mutations result in complete loss of GATA2 function, with respect to the capacity to regulate the transcription of genes that are important for lymphatic vessel valve development. We identified a putative enhancer element upstream of the key lymphatic transcriptional regulator <italic>PROX1</italic>
that is bound by GATA2, and the transcription factors FOXC2 and NFATC1. Emberger GATA2 missense mutants had a profoundly reduced capacity to bind this element. Conditional <italic>Gata2</italic>
deletion in mice revealed that GATA2 is required for both development and maintenance of lymphovenous and lymphatic vessel valves. Together, our data unveil essential roles for GATA2 in the lymphatic vasculature and explain why a select catalogue of human <italic>GATA2</italic>
mutations results in lymphedema.</p>
</div>
</front>
</TEI>
</record>
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