Serveur d'exploration sur le lymphœdème

Attention, ce site est en cours de développement !
Attention, site généré par des moyens informatiques à partir de corpus bruts.
Les informations ne sont donc pas validées.

Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia

Identifieur interne : 004E48 ( Main/Exploration ); précédent : 004E47; suivant : 004E49

Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia

Auteurs : Christopher N. Hahn [Australie] ; Chan-Eng Chong [Australie] ; Catherine L. Carmichael [Australie] ; Ella J. Wilkins [Australie] ; Peter J. Brautigan [Australie] ; Xiao-Chun Li [Australie] ; Milena Babic [Australie] ; Ming Lin [Australie] ; Amandine Carmagnac [Australie] ; Young K. Lee [Australie] ; Chung H. Kok [Australie] ; Lucia Gagliardi [Australie] ; Kathryn L. Friend [Australie] ; Paul G. Ekert [Australie] ; Carolyn M. Butcher [Australie] ; Anna L. Brown [Australie] ; Ian D. Lewis [Australie] ; L. Bik To [Australie] ; Andrew E. Timms [États-Unis] ; Jan Storek [Canada] ; Sarah Moore [Australie] ; Meryl Altree [Australie] ; Robert Escher [Australie] ; Peter G. Bardy [Australie] ; Graeme K. Suthers [Australie] ; Richard J. D Ndrea [Australie] ; Marshall S. Horwitz [États-Unis] ; Hamish S. Scott [Australie]

Source :

RBID : PMC:3184204

Abstract

We report the discovery of the GATA2 gene as a new myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) predisposition gene. We found the same, novel heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS/AML in three families, and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS/AML family. The mutations reside within the second zinc finger of GATA2 which mediates DNA-binding and protein-protein interactions. We show differential effects of the mutants on transactivation of target genes, cellular differentiation, apoptosis and global gene expression. Identification of such predisposing genes to familial forms of MDS and AML is critical for more effective diagnosis and prognosis, counselling, selection of related bone marrow transplant donors, and development of therapies.


Url:
DOI: 10.1038/ng.913
PubMed: 21892162
PubMed Central: 3184204


Affiliations:


Links toward previous steps (curation, corpus...)


Le document en format XML

<record>
<TEI>
<teiHeader>
<fileDesc>
<titleStmt>
<title xml:lang="en">Heritable
<italic>GATA2</italic>
Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia</title>
<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="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Chong, Chan Eng" sort="Chong, Chan Eng" uniqKey="Chong C" first="Chan-Eng" last="Chong">Chan-Eng Chong</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Carmichael, Catherine L" sort="Carmichael, Catherine L" uniqKey="Carmichael C" first="Catherine L." last="Carmichael">Catherine L. Carmichael</name>
<affiliation wicri:level="1">
<nlm:aff id="A3">Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Wilkins, Ella J" sort="Wilkins, Ella J" uniqKey="Wilkins E" first="Ella J." last="Wilkins">Ella J. Wilkins</name>
<affiliation wicri:level="1">
<nlm:aff id="A3">Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Brautigan, Peter J" sort="Brautigan, Peter J" uniqKey="Brautigan P" first="Peter J." last="Brautigan">Peter J. Brautigan</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Li, Xiao Chun" sort="Li, Xiao Chun" uniqKey="Li X" first="Xiao-Chun" last="Li">Xiao-Chun Li</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Babic, Milena" sort="Babic, Milena" uniqKey="Babic M" first="Milena" last="Babic">Milena Babic</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lin, Ming" sort="Lin, Ming" uniqKey="Lin M" first="Ming" last="Lin">Ming Lin</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Carmagnac, Amandine" sort="Carmagnac, Amandine" uniqKey="Carmagnac A" first="Amandine" last="Carmagnac">Amandine Carmagnac</name>
<affiliation wicri:level="1">
<nlm:aff id="A3">Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lee, Young K" sort="Lee, Young K" uniqKey="Lee Y" first="Young K." last="Lee">Young K. Lee</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Kok, Chung H" sort="Kok, Chung H" uniqKey="Kok C" first="Chung H." last="Kok">Chung H. Kok</name>
<affiliation wicri:level="1">
<nlm:aff id="A4">Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Gagliardi, Lucia" sort="Gagliardi, Lucia" uniqKey="Gagliardi L" first="Lucia" last="Gagliardi">Lucia Gagliardi</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Friend, Kathryn L" sort="Friend, Kathryn L" uniqKey="Friend K" first="Kathryn L." last="Friend">Kathryn L. Friend</name>
<affiliation wicri:level="1">
<nlm:aff id="A6">Department of Paediatric and Reproductive Genetics, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatric and Reproductive Genetics, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ekert, Paul G" sort="Ekert, Paul G" uniqKey="Ekert P" first="Paul G." last="Ekert">Paul G. Ekert</name>
<affiliation wicri:level="1">
<nlm:aff id="A7">Cell Signalling and Cell Death Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Cell Signalling and Cell Death Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Butcher, Carolyn M" sort="Butcher, Carolyn M" uniqKey="Butcher C" first="Carolyn M." last="Butcher">Carolyn M. Butcher</name>
<affiliation wicri:level="1">
<nlm:aff id="A4">Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Brown, Anna L" sort="Brown, Anna L" uniqKey="Brown A" first="Anna L." last="Brown">Anna L. Brown</name>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lewis, Ian D" sort="Lewis, Ian D" uniqKey="Lewis I" first="Ian D." last="Lewis">Ian D. Lewis</name>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="To, L Bik" sort="To, L Bik" uniqKey="To L" first="L. Bik" last="To">L. Bik To</name>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Timms, Andrew E" sort="Timms, Andrew E" uniqKey="Timms A" first="Andrew E." last="Timms">Andrew E. Timms</name>
<affiliation wicri:level="1">
<nlm:aff id="A8">Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology, University of Washington School of Medicine, Seattle, WA</wicri:regionArea>
<wicri:noRegion>WA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Storek, Jan" sort="Storek, Jan" uniqKey="Storek J" first="Jan" last="Storek">Jan Storek</name>
<affiliation wicri:level="4">
<nlm:aff id="A9">Department of Medicine, University of Calgary, Calgary, Alberta, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, University of Calgary, Calgary, Alberta</wicri:regionArea>
<orgName type="university">Université de Calgary</orgName>
<placeName>
<settlement type="city">Calgary</settlement>
<region type="state">Alberta</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Moore, Sarah" sort="Moore, Sarah" uniqKey="Moore S" first="Sarah" last="Moore">Sarah Moore</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Altree, Meryl" sort="Altree, Meryl" uniqKey="Altree M" first="Meryl" last="Altree">Meryl Altree</name>
<affiliation wicri:level="1">
<nlm:aff id="A10">SA Clinical Genetics Service, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>SA Clinical Genetics Service, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Escher, Robert" sort="Escher, Robert" uniqKey="Escher R" first="Robert" last="Escher">Robert Escher</name>
<affiliation wicri:level="1">
<nlm:aff id="A3">Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Bardy, Peter G" sort="Bardy, Peter G" uniqKey="Bardy P" first="Peter G." last="Bardy">Peter G. Bardy</name>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Suthers, Graeme K" sort="Suthers, Graeme K" uniqKey="Suthers G" first="Graeme K." last="Suthers">Graeme K. Suthers</name>
<affiliation wicri:level="1">
<nlm:aff id="A10">SA Clinical Genetics Service, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>SA Clinical Genetics Service, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A11">Department of Paediatrics, University of Adelaide, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatrics, University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="D Ndrea, Richard J" sort="D Ndrea, Richard J" uniqKey="D Ndrea R" first="Richard J." last="D Ndrea">Richard J. D Ndrea</name>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A4">Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Horwitz, Marshall S" sort="Horwitz, Marshall S" uniqKey="Horwitz M" first="Marshall S." last="Horwitz">Marshall S. Horwitz</name>
<affiliation wicri:level="1">
<nlm:aff id="A8">Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology, University of Washington School of Medicine, Seattle, WA</wicri:regionArea>
<wicri:noRegion>WA</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="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A3">Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A12">School of Molecular and Biomedical Science, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Molecular and Biomedical Science, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">PMC</idno>
<idno type="pmid">21892162</idno>
<idno type="pmc">3184204</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3184204</idno>
<idno type="RBID">PMC:3184204</idno>
<idno type="doi">10.1038/ng.913</idno>
<date when="2011">2011</date>
<idno type="wicri:Area/Pmc/Corpus">004707</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">004707</idno>
<idno type="wicri:Area/Pmc/Curation">004706</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">004706</idno>
<idno type="wicri:Area/Pmc/Checkpoint">002F41</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002F41</idno>
<idno type="wicri:Area/Ncbi/Merge">004642</idno>
<idno type="wicri:Area/Ncbi/Curation">004642</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">004642</idno>
<idno type="wicri:Area/Main/Merge">004E84</idno>
<idno type="wicri:Area/Main/Curation">004E48</idno>
<idno type="wicri:Area/Main/Exploration">004E48</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en" level="a" type="main">Heritable
<italic>GATA2</italic>
Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia</title>
<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="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Chong, Chan Eng" sort="Chong, Chan Eng" uniqKey="Chong C" first="Chan-Eng" last="Chong">Chan-Eng Chong</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Carmichael, Catherine L" sort="Carmichael, Catherine L" uniqKey="Carmichael C" first="Catherine L." last="Carmichael">Catherine L. Carmichael</name>
<affiliation wicri:level="1">
<nlm:aff id="A3">Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Wilkins, Ella J" sort="Wilkins, Ella J" uniqKey="Wilkins E" first="Ella J." last="Wilkins">Ella J. Wilkins</name>
<affiliation wicri:level="1">
<nlm:aff id="A3">Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Brautigan, Peter J" sort="Brautigan, Peter J" uniqKey="Brautigan P" first="Peter J." last="Brautigan">Peter J. Brautigan</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Li, Xiao Chun" sort="Li, Xiao Chun" uniqKey="Li X" first="Xiao-Chun" last="Li">Xiao-Chun Li</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Babic, Milena" sort="Babic, Milena" uniqKey="Babic M" first="Milena" last="Babic">Milena Babic</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lin, Ming" sort="Lin, Ming" uniqKey="Lin M" first="Ming" last="Lin">Ming Lin</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Carmagnac, Amandine" sort="Carmagnac, Amandine" uniqKey="Carmagnac A" first="Amandine" last="Carmagnac">Amandine Carmagnac</name>
<affiliation wicri:level="1">
<nlm:aff id="A3">Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lee, Young K" sort="Lee, Young K" uniqKey="Lee Y" first="Young K." last="Lee">Young K. Lee</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Kok, Chung H" sort="Kok, Chung H" uniqKey="Kok C" first="Chung H." last="Kok">Chung H. Kok</name>
<affiliation wicri:level="1">
<nlm:aff id="A4">Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Gagliardi, Lucia" sort="Gagliardi, Lucia" uniqKey="Gagliardi L" first="Lucia" last="Gagliardi">Lucia Gagliardi</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Friend, Kathryn L" sort="Friend, Kathryn L" uniqKey="Friend K" first="Kathryn L." last="Friend">Kathryn L. Friend</name>
<affiliation wicri:level="1">
<nlm:aff id="A6">Department of Paediatric and Reproductive Genetics, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatric and Reproductive Genetics, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ekert, Paul G" sort="Ekert, Paul G" uniqKey="Ekert P" first="Paul G." last="Ekert">Paul G. Ekert</name>
<affiliation wicri:level="1">
<nlm:aff id="A7">Cell Signalling and Cell Death Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Cell Signalling and Cell Death Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Butcher, Carolyn M" sort="Butcher, Carolyn M" uniqKey="Butcher C" first="Carolyn M." last="Butcher">Carolyn M. Butcher</name>
<affiliation wicri:level="1">
<nlm:aff id="A4">Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Brown, Anna L" sort="Brown, Anna L" uniqKey="Brown A" first="Anna L." last="Brown">Anna L. Brown</name>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lewis, Ian D" sort="Lewis, Ian D" uniqKey="Lewis I" first="Ian D." last="Lewis">Ian D. Lewis</name>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="To, L Bik" sort="To, L Bik" uniqKey="To L" first="L. Bik" last="To">L. Bik To</name>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Timms, Andrew E" sort="Timms, Andrew E" uniqKey="Timms A" first="Andrew E." last="Timms">Andrew E. Timms</name>
<affiliation wicri:level="1">
<nlm:aff id="A8">Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology, University of Washington School of Medicine, Seattle, WA</wicri:regionArea>
<wicri:noRegion>WA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Storek, Jan" sort="Storek, Jan" uniqKey="Storek J" first="Jan" last="Storek">Jan Storek</name>
<affiliation wicri:level="4">
<nlm:aff id="A9">Department of Medicine, University of Calgary, Calgary, Alberta, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, University of Calgary, Calgary, Alberta</wicri:regionArea>
<orgName type="university">Université de Calgary</orgName>
<placeName>
<settlement type="city">Calgary</settlement>
<region type="state">Alberta</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Moore, Sarah" sort="Moore, Sarah" uniqKey="Moore S" first="Sarah" last="Moore">Sarah Moore</name>
<affiliation wicri:level="1">
<nlm:aff id="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Altree, Meryl" sort="Altree, Meryl" uniqKey="Altree M" first="Meryl" last="Altree">Meryl Altree</name>
<affiliation wicri:level="1">
<nlm:aff id="A10">SA Clinical Genetics Service, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>SA Clinical Genetics Service, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Escher, Robert" sort="Escher, Robert" uniqKey="Escher R" first="Robert" last="Escher">Robert Escher</name>
<affiliation wicri:level="1">
<nlm:aff id="A3">Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Bardy, Peter G" sort="Bardy, Peter G" uniqKey="Bardy P" first="Peter G." last="Bardy">Peter G. Bardy</name>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Suthers, Graeme K" sort="Suthers, Graeme K" uniqKey="Suthers G" first="Graeme K." last="Suthers">Graeme K. Suthers</name>
<affiliation wicri:level="1">
<nlm:aff id="A10">SA Clinical Genetics Service, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>SA Clinical Genetics Service, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A11">Department of Paediatrics, University of Adelaide, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Paediatrics, University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="D Ndrea, Richard J" sort="D Ndrea, Richard J" uniqKey="D Ndrea R" first="Richard J." last="D Ndrea">Richard J. D Ndrea</name>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A4">Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology and Oncology, The Queen Elizabeth Hospital, Woodville, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A5">Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Haematology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Horwitz, Marshall S" sort="Horwitz, Marshall S" uniqKey="Horwitz M" first="Marshall S." last="Horwitz">Marshall S. Horwitz</name>
<affiliation wicri:level="1">
<nlm:aff id="A8">Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology, University of Washington School of Medicine, Seattle, WA</wicri:regionArea>
<wicri:noRegion>WA</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="A1">Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A2">School of Medicine, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Medicine, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A3">Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Molecular Medicine Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Vic</wicri:regionArea>
<wicri:noRegion>Vic</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="A12">School of Molecular and Biomedical Science, University of Adelaide, SA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Molecular and Biomedical Science, University of Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series>
<title level="j">Nature genetics</title>
<idno type="ISSN">1061-4036</idno>
<idno type="eISSN">1546-1718</idno>
<imprint>
<date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<p id="P1">We report the discovery of the
<italic>GATA2</italic>
gene as a new myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) predisposition gene. We found the same, novel heterozygous c.1061C>T (p.Thr354Met) missense mutation in the
<italic>GATA2</italic>
transcription factor gene segregating with the multigenerational transmission of MDS/AML in three families, and a
<italic>GATA2</italic>
c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS/AML family. The mutations reside within the second zinc finger of GATA2 which mediates DNA-binding and protein-protein interactions. We show differential effects of the mutants on transactivation of target genes, cellular differentiation, apoptosis and global gene expression. Identification of such predisposing genes to familial forms of MDS and AML is critical for more effective diagnosis and prognosis, counselling, selection of related bone marrow transplant donors, and development of therapies.</p>
</div>
</front>
<back>
<div1 type="bibliography">
<listBibl>
<biblStruct>
<analytic>
<author>
<name sortKey="Vardiman, Jw" uniqKey="Vardiman J">JW Vardiman</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Barzi, A" uniqKey="Barzi A">A Barzi</name>
</author>
<author>
<name sortKey="Sekeres, Ma" uniqKey="Sekeres M">MA Sekeres</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Owen, C" uniqKey="Owen C">C Owen</name>
</author>
<author>
<name sortKey="Barnett, M" uniqKey="Barnett M">M Barnett</name>
</author>
<author>
<name sortKey="Fitzgibbon, J" uniqKey="Fitzgibbon J">J Fitzgibbon</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zhang, P" uniqKey="Zhang P">P Zhang</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Crossley, M" uniqKey="Crossley M">M Crossley</name>
</author>
<author>
<name sortKey="Merika, M" uniqKey="Merika M">M Merika</name>
</author>
<author>
<name sortKey="Orkin, Sh" uniqKey="Orkin S">SH Orkin</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zhang, Sj" uniqKey="Zhang S">SJ Zhang</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Yan, Xj" uniqKey="Yan X">XJ Yan</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Usary, J" uniqKey="Usary J">J Usary</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Owen, Cj" uniqKey="Owen C">CJ Owen</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Carmichael, Cl" uniqKey="Carmichael C">CL Carmichael</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Robinson, Cw" uniqKey="Robinson C">CW Robinson</name>
</author>
<author>
<name sortKey="Norman, Je" uniqKey="Norman J">JE Norman</name>
</author>
<author>
<name sortKey="Cleland, Lg" uniqKey="Cleland L">LG Cleland</name>
</author>
<author>
<name sortKey="Ford, Jh" uniqKey="Ford J">JH Ford</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Horwitz, M" uniqKey="Horwitz M">M Horwitz</name>
</author>
<author>
<name sortKey="Sabath, De" uniqKey="Sabath D">DE Sabath</name>
</author>
<author>
<name sortKey="Smithson, Wa" uniqKey="Smithson W">WA Smithson</name>
</author>
<author>
<name sortKey="Radich, J" uniqKey="Radich J">J Radich</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Minelli, A" uniqKey="Minelli A">A Minelli</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Michaud, J" uniqKey="Michaud J">J Michaud</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Veitia, Ra" uniqKey="Veitia R">RA Veitia</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Ernst, T" uniqKey="Ernst T">T Ernst</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Matheny, Cj" uniqKey="Matheny C">CJ Matheny</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Kitajima, K" uniqKey="Kitajima K">K Kitajima</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Tsai, Fy" uniqKey="Tsai F">FY Tsai</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zhang, Sj" uniqKey="Zhang S">SJ Zhang</name>
</author>
<author>
<name sortKey="Shi, Jy" uniqKey="Shi J">JY Shi</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Zhang, Sj" uniqKey="Zhang S">SJ Zhang</name>
</author>
<author>
<name sortKey="Shi, Jy" uniqKey="Shi J">JY Shi</name>
</author>
<author>
<name sortKey="Li, Jy" uniqKey="Li J">JY Li</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Fadilah, Sa" uniqKey="Fadilah S">SA Fadilah</name>
</author>
<author>
<name sortKey="Cheong, Sk" uniqKey="Cheong S">SK Cheong</name>
</author>
<author>
<name sortKey="Roslan, H" uniqKey="Roslan H">H Roslan</name>
</author>
<author>
<name sortKey="Rozie Hanisa, M" uniqKey="Rozie Hanisa M">M Rozie-Hanisa</name>
</author>
<author>
<name sortKey="Yen, Gk" uniqKey="Yen G">GK Yen</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Bullinger, L" uniqKey="Bullinger L">L Bullinger</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Wieser, R" uniqKey="Wieser R">R Wieser</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Bullinger, L" uniqKey="Bullinger L">L Bullinger</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Lahortiga, I" uniqKey="Lahortiga I">I Lahortiga</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Slape, C" uniqKey="Slape C">C Slape</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Hsu, Ap" uniqKey="Hsu A">AP Hsu</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Mansour, S" uniqKey="Mansour S">S Mansour</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Bigley, V" uniqKey="Bigley V">V Bigley</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Tsuzuki, S" uniqKey="Tsuzuki S">S Tsuzuki</name>
</author>
<author>
<name sortKey="Towatari, M" uniqKey="Towatari M">M Towatari</name>
</author>
<author>
<name sortKey="Saito, H" uniqKey="Saito H">H Saito</name>
</author>
<author>
<name sortKey="Enver, T" uniqKey="Enver T">T Enver</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Diessenbacher, P" uniqKey="Diessenbacher P">P Diessenbacher</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Callus, Ba" uniqKey="Callus B">BA Callus</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Koldej, R" uniqKey="Koldej R">R Koldej</name>
</author>
<author>
<name sortKey="Cmielewski, P" uniqKey="Cmielewski P">P Cmielewski</name>
</author>
<author>
<name sortKey="Stocker, A" uniqKey="Stocker A">A Stocker</name>
</author>
<author>
<name sortKey="Parsons, Dw" uniqKey="Parsons D">DW Parsons</name>
</author>
<author>
<name sortKey="Anson, Ds" uniqKey="Anson D">DS Anson</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Kumar, R" uniqKey="Kumar R">R Kumar</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<affiliations>
<list>
<country>
<li>Australie</li>
<li>Canada</li>
<li>États-Unis</li>
</country>
<region>
<li>Alberta</li>
</region>
<settlement>
<li>Calgary</li>
</settlement>
<orgName>
<li>Université de Calgary</li>
</orgName>
</list>
<tree>
<country name="Australie">
<noRegion>
<name sortKey="Hahn, Christopher N" sort="Hahn, Christopher N" uniqKey="Hahn C" first="Christopher N." last="Hahn">Christopher N. Hahn</name>
</noRegion>
<name sortKey="Altree, Meryl" sort="Altree, Meryl" uniqKey="Altree M" first="Meryl" last="Altree">Meryl Altree</name>
<name sortKey="Babic, Milena" sort="Babic, Milena" uniqKey="Babic M" first="Milena" last="Babic">Milena Babic</name>
<name sortKey="Bardy, Peter G" sort="Bardy, Peter G" uniqKey="Bardy P" first="Peter G." last="Bardy">Peter G. Bardy</name>
<name sortKey="Brautigan, Peter J" sort="Brautigan, Peter J" uniqKey="Brautigan P" first="Peter J." last="Brautigan">Peter J. Brautigan</name>
<name sortKey="Brown, Anna L" sort="Brown, Anna L" uniqKey="Brown A" first="Anna L." last="Brown">Anna L. Brown</name>
<name sortKey="Butcher, Carolyn M" sort="Butcher, Carolyn M" uniqKey="Butcher C" first="Carolyn M." last="Butcher">Carolyn M. Butcher</name>
<name sortKey="Butcher, Carolyn M" sort="Butcher, Carolyn M" uniqKey="Butcher C" first="Carolyn M." last="Butcher">Carolyn M. Butcher</name>
<name sortKey="Carmagnac, Amandine" sort="Carmagnac, Amandine" uniqKey="Carmagnac A" first="Amandine" last="Carmagnac">Amandine Carmagnac</name>
<name sortKey="Carmichael, Catherine L" sort="Carmichael, Catherine L" uniqKey="Carmichael C" first="Catherine L." last="Carmichael">Catherine L. Carmichael</name>
<name sortKey="Chong, Chan Eng" sort="Chong, Chan Eng" uniqKey="Chong C" first="Chan-Eng" last="Chong">Chan-Eng Chong</name>
<name sortKey="Chong, Chan Eng" sort="Chong, Chan Eng" uniqKey="Chong C" first="Chan-Eng" last="Chong">Chan-Eng Chong</name>
<name sortKey="D Ndrea, Richard J" sort="D Ndrea, Richard J" uniqKey="D Ndrea R" first="Richard J." last="D Ndrea">Richard J. D Ndrea</name>
<name sortKey="D Ndrea, Richard J" sort="D Ndrea, Richard J" uniqKey="D Ndrea R" first="Richard J." last="D Ndrea">Richard J. D Ndrea</name>
<name sortKey="D Ndrea, Richard J" sort="D Ndrea, Richard J" uniqKey="D Ndrea R" first="Richard J." last="D Ndrea">Richard J. D Ndrea</name>
<name sortKey="Ekert, Paul G" sort="Ekert, Paul G" uniqKey="Ekert P" first="Paul G." last="Ekert">Paul G. Ekert</name>
<name sortKey="Escher, Robert" sort="Escher, Robert" uniqKey="Escher R" first="Robert" last="Escher">Robert Escher</name>
<name sortKey="Friend, Kathryn L" sort="Friend, Kathryn L" uniqKey="Friend K" first="Kathryn L." last="Friend">Kathryn L. Friend</name>
<name sortKey="Gagliardi, Lucia" sort="Gagliardi, Lucia" uniqKey="Gagliardi L" first="Lucia" last="Gagliardi">Lucia Gagliardi</name>
<name sortKey="Hahn, Christopher N" sort="Hahn, Christopher N" uniqKey="Hahn C" first="Christopher N." last="Hahn">Christopher N. Hahn</name>
<name sortKey="Kok, Chung H" sort="Kok, Chung H" uniqKey="Kok C" first="Chung H." last="Kok">Chung H. Kok</name>
<name sortKey="Kok, Chung H" sort="Kok, Chung H" uniqKey="Kok C" first="Chung H." last="Kok">Chung H. Kok</name>
<name sortKey="Lee, Young K" sort="Lee, Young K" uniqKey="Lee Y" first="Young K." last="Lee">Young K. Lee</name>
<name sortKey="Lewis, Ian D" sort="Lewis, Ian D" uniqKey="Lewis I" first="Ian D." last="Lewis">Ian D. Lewis</name>
<name sortKey="Lewis, Ian D" sort="Lewis, Ian D" uniqKey="Lewis I" first="Ian D." last="Lewis">Ian D. Lewis</name>
<name sortKey="Li, Xiao Chun" sort="Li, Xiao Chun" uniqKey="Li X" first="Xiao-Chun" last="Li">Xiao-Chun Li</name>
<name sortKey="Lin, Ming" sort="Lin, Ming" uniqKey="Lin M" first="Ming" last="Lin">Ming Lin</name>
<name sortKey="Moore, Sarah" sort="Moore, Sarah" uniqKey="Moore S" first="Sarah" last="Moore">Sarah Moore</name>
<name sortKey="Scott, Hamish S" sort="Scott, Hamish S" uniqKey="Scott H" first="Hamish S." last="Scott">Hamish S. Scott</name>
<name sortKey="Scott, Hamish S" sort="Scott, Hamish S" uniqKey="Scott H" first="Hamish S." last="Scott">Hamish S. Scott</name>
<name sortKey="Scott, Hamish S" sort="Scott, Hamish S" uniqKey="Scott H" first="Hamish S." last="Scott">Hamish S. Scott</name>
<name sortKey="Scott, Hamish S" sort="Scott, Hamish S" uniqKey="Scott H" first="Hamish S." last="Scott">Hamish S. Scott</name>
<name sortKey="Suthers, Graeme K" sort="Suthers, Graeme K" uniqKey="Suthers G" first="Graeme K." last="Suthers">Graeme K. Suthers</name>
<name sortKey="Suthers, Graeme K" sort="Suthers, Graeme K" uniqKey="Suthers G" first="Graeme K." last="Suthers">Graeme K. Suthers</name>
<name sortKey="To, L Bik" sort="To, L Bik" uniqKey="To L" first="L. Bik" last="To">L. Bik To</name>
<name sortKey="To, L Bik" sort="To, L Bik" uniqKey="To L" first="L. Bik" last="To">L. Bik To</name>
<name sortKey="Wilkins, Ella J" sort="Wilkins, Ella J" uniqKey="Wilkins E" first="Ella J." last="Wilkins">Ella J. Wilkins</name>
</country>
<country name="États-Unis">
<noRegion>
<name sortKey="Timms, Andrew E" sort="Timms, Andrew E" uniqKey="Timms A" first="Andrew E." last="Timms">Andrew E. Timms</name>
</noRegion>
<name sortKey="Horwitz, Marshall S" sort="Horwitz, Marshall S" uniqKey="Horwitz M" first="Marshall S." last="Horwitz">Marshall S. Horwitz</name>
</country>
<country name="Canada">
<region name="Alberta">
<name sortKey="Storek, Jan" sort="Storek, Jan" uniqKey="Storek J" first="Jan" last="Storek">Jan Storek</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004E48 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004E48 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:3184204
   |texte=   Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:21892162" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1 

Wicri

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024