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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>Cis</italic>-element mutated in <italic>GATA2</italic>-dependent immunodeficiency governs hematopoiesis and vascular integrity
</title><author><name sortKey="Johnson, Kirby D" sort="Johnson, Kirby D" uniqKey="Johnson K" first="Kirby D." last="Johnson">Kirby D. Johnson</name><affiliation><nlm:aff id="JCI61623">Department of Cell and Regenerative Biology, Wisconsin Institutes for Medical Research, UW Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name><affiliation><nlm:aff id="JCI61623">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.</nlm:aff></affiliation></author><author><name sortKey="Ryu, Myung Jeom" sort="Ryu, Myung Jeom" uniqKey="Ryu M" first="Myung-Jeom" last="Ryu">Myung-Jeom Ryu</name><affiliation><nlm:aff id="JCI61623">McArdle Laboratory for Cancer Research, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Wang, Jinyong" sort="Wang, Jinyong" uniqKey="Wang J" first="Jinyong" last="Wang">Jinyong Wang</name><affiliation><nlm:aff id="JCI61623">McArdle Laboratory for Cancer Research, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Gao, Xin" sort="Gao, Xin" uniqKey="Gao X" first="Xin" last="Gao">Xin Gao</name><affiliation><nlm:aff id="JCI61623">Department of Cell and Regenerative Biology, Wisconsin Institutes for Medical Research, UW Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Boyer, Meghan E" sort="Boyer, Meghan E" uniqKey="Boyer M" first="Meghan E." last="Boyer">Meghan E. Boyer</name><affiliation><nlm:aff id="JCI61623">Department of Cell and Regenerative Biology, Wisconsin Institutes for Medical Research, UW Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Liu, Yangang" sort="Liu, Yangang" uniqKey="Liu Y" first="Yangang" last="Liu">Yangang Liu</name><affiliation><nlm:aff id="JCI61623">McArdle Laboratory for Cancer Research, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Lee, Youngsook" sort="Lee, Youngsook" uniqKey="Lee Y" first="Youngsook" last="Lee">Youngsook Lee</name><affiliation><nlm:aff id="JCI61623">Department of Cell and Regenerative Biology, Wisconsin Institutes for Medical Research, UW Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Calvo, Katherine R" sort="Calvo, Katherine R" uniqKey="Calvo K" first="Katherine R." last="Calvo">Katherine R. Calvo</name><affiliation><nlm:aff id="JCI61623">Hematology Section, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, Maryland, USA.</nlm:aff></affiliation></author><author><name sortKey="Keles, Sunduz" sort="Keles, Sunduz" uniqKey="Keles S" first="Sunduz" last="Keles">Sunduz Keles</name><affiliation><nlm:aff id="JCI61623">Departments of Biostatistics and Medical Informatics and Statistics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Zhang, Jing" sort="Zhang, Jing" uniqKey="Zhang J" first="Jing" last="Zhang">Jing Zhang</name><affiliation><nlm:aff id="JCI61623">McArdle Laboratory for Cancer Research, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation><nlm:aff id="JCI61623">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.</nlm:aff></affiliation></author><author><name sortKey="Bresnick, Emery H" sort="Bresnick, Emery H" uniqKey="Bresnick E" first="Emery H." last="Bresnick">Emery H. Bresnick</name><affiliation><nlm:aff id="JCI61623">Department of Cell and Regenerative Biology, Wisconsin Institutes for Medical Research, UW Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22996659</idno><idno type="pmc">3461907</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3461907</idno><idno type="RBID">PMC:3461907</idno><idno type="doi">10.1172/JCI61623</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">002F18</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002F18</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>Cis</italic>-element mutated in <italic>GATA2</italic>-dependent immunodeficiency governs hematopoiesis and vascular integrity
</title><author><name sortKey="Johnson, Kirby D" sort="Johnson, Kirby D" uniqKey="Johnson K" first="Kirby D." last="Johnson">Kirby D. Johnson</name><affiliation><nlm:aff id="JCI61623">Department of Cell and Regenerative Biology, Wisconsin Institutes for Medical Research, UW Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Hsu, Amy P" sort="Hsu, Amy P" uniqKey="Hsu A" first="Amy P." last="Hsu">Amy P. Hsu</name><affiliation><nlm:aff id="JCI61623">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.</nlm:aff></affiliation></author><author><name sortKey="Ryu, Myung Jeom" sort="Ryu, Myung Jeom" uniqKey="Ryu M" first="Myung-Jeom" last="Ryu">Myung-Jeom Ryu</name><affiliation><nlm:aff id="JCI61623">McArdle Laboratory for Cancer Research, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Wang, Jinyong" sort="Wang, Jinyong" uniqKey="Wang J" first="Jinyong" last="Wang">Jinyong Wang</name><affiliation><nlm:aff id="JCI61623">McArdle Laboratory for Cancer Research, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Gao, Xin" sort="Gao, Xin" uniqKey="Gao X" first="Xin" last="Gao">Xin Gao</name><affiliation><nlm:aff id="JCI61623">Department of Cell and Regenerative Biology, Wisconsin Institutes for Medical Research, UW Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Boyer, Meghan E" sort="Boyer, Meghan E" uniqKey="Boyer M" first="Meghan E." last="Boyer">Meghan E. Boyer</name><affiliation><nlm:aff id="JCI61623">Department of Cell and Regenerative Biology, Wisconsin Institutes for Medical Research, UW Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Liu, Yangang" sort="Liu, Yangang" uniqKey="Liu Y" first="Yangang" last="Liu">Yangang Liu</name><affiliation><nlm:aff id="JCI61623">McArdle Laboratory for Cancer Research, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Lee, Youngsook" sort="Lee, Youngsook" uniqKey="Lee Y" first="Youngsook" last="Lee">Youngsook Lee</name><affiliation><nlm:aff id="JCI61623">Department of Cell and Regenerative Biology, Wisconsin Institutes for Medical Research, UW Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Calvo, Katherine R" sort="Calvo, Katherine R" uniqKey="Calvo K" first="Katherine R." last="Calvo">Katherine R. Calvo</name><affiliation><nlm:aff id="JCI61623">Hematology Section, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, Maryland, USA.</nlm:aff></affiliation></author><author><name sortKey="Keles, Sunduz" sort="Keles, Sunduz" uniqKey="Keles S" first="Sunduz" last="Keles">Sunduz Keles</name><affiliation><nlm:aff id="JCI61623">Departments of Biostatistics and Medical Informatics and Statistics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Zhang, Jing" sort="Zhang, Jing" uniqKey="Zhang J" first="Jing" last="Zhang">Jing Zhang</name><affiliation><nlm:aff id="JCI61623">McArdle Laboratory for Cancer Research, Madison, Wisconsin, USA.</nlm:aff></affiliation></author><author><name sortKey="Holland, Steven M" sort="Holland, Steven M" uniqKey="Holland S" first="Steven M." last="Holland">Steven M. Holland</name><affiliation><nlm:aff id="JCI61623">Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.</nlm:aff></affiliation></author><author><name sortKey="Bresnick, Emery H" sort="Bresnick, Emery H" uniqKey="Bresnick E" first="Emery H." last="Bresnick">Emery H. Bresnick</name><affiliation><nlm:aff id="JCI61623">Department of Cell and Regenerative Biology, Wisconsin Institutes for Medical Research, UW Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</nlm:aff></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="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Haploinsufficiency for <italic>GATA2</italic> causes human immunodeficiency syndromes characterized by mycobacterial infection, myelodysplasia, lymphedema, or aplastic anemia that progress to myeloid leukemia. <italic>GATA2</italic> encodes a master regulator of hematopoiesis that is also linked to endothelial biology. Though the disease-causing mutations commonly occur in the GATA-2 DNA binding domain, we identified a patient with mycobacterial infection and myelodysplasia who had an uncharacterized heterozygous deletion in a <italic>GATA2</italic><italic>cis</italic>-element consisting of an E-box and a GATA motif. Targeted deletion of the equivalent murine element to yield homozygous mutant mice revealed embryonic lethality later than occurred with global <italic>Gata2</italic> knockout, hematopoietic stem/progenitor cell depletion, and impaired vascular integrity. Heterozygous mutant mice were viable, but embryos exhibited deficits in definitive, but not primitive, hematopoietic stem/progenitor activity and reduced expression of <italic>Gata2</italic> and its target genes. Mechanistic analysis revealed disruption of the endothelial cell transcriptome and loss of vascular integrity. Thus, the composite element disrupted in a human immunodeficiency is essential for establishment of the murine hematopoietic stem/progenitor cell compartment in the fetal liver and for essential vascular processes.
</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">22996659</article-id><article-id pub-id-type="pmc">3461907</article-id><article-id pub-id-type="publisher-id">61623</article-id><article-id pub-id-type="doi">10.1172/JCI61623</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title><italic>Cis</italic>-element mutated in <italic>GATA2</italic>-dependent immunodeficiency governs hematopoiesis and vascular integrity
</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Johnson</surname><given-names>Kirby D.</given-names></name><xref ref-type="aff" rid="JCI61623">1</xref></contrib><contrib contrib-type="author"><name><surname>Hsu</surname><given-names>Amy P.</given-names></name><xref ref-type="aff" rid="JCI61623">2</xref></contrib><contrib contrib-type="author"><name><surname>Ryu</surname><given-names>Myung-Jeom</given-names></name><xref ref-type="aff" rid="JCI61623">3</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Jinyong</given-names></name><xref ref-type="aff" rid="JCI61623">3</xref></contrib><contrib contrib-type="author"><name><surname>Gao</surname><given-names>Xin</given-names></name><xref ref-type="aff" rid="JCI61623">1</xref></contrib><contrib contrib-type="author"><name><surname>Boyer</surname><given-names>Meghan E.</given-names></name><xref ref-type="aff" rid="JCI61623">1</xref></contrib><contrib contrib-type="author"><name><surname>Liu</surname><given-names>Yangang</given-names></name><xref ref-type="aff" rid="JCI61623">3</xref></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Youngsook</given-names></name><xref ref-type="aff" rid="JCI61623">1</xref></contrib><contrib contrib-type="author"><name><surname>Calvo</surname><given-names>Katherine R.</given-names></name><xref ref-type="aff" rid="JCI61623">4</xref></contrib><contrib contrib-type="author"><name><surname>Keles</surname><given-names>Sunduz</given-names></name><xref ref-type="aff" rid="JCI61623">5</xref></contrib><contrib contrib-type="author"><name><surname>Zhang</surname><given-names>Jing</given-names></name><xref ref-type="aff" rid="JCI61623">3</xref></contrib><contrib contrib-type="author"><name><surname>Holland</surname><given-names>Steven M.</given-names></name><xref ref-type="aff" rid="JCI61623">2</xref></contrib><contrib contrib-type="author"><name><surname>Bresnick</surname><given-names>Emery H.</given-names></name><xref ref-type="aff" rid="JCI61623">1</xref></contrib></contrib-group><aff id="JCI61623"><label>1</label>Department of Cell and Regenerative Biology, Wisconsin Institutes for Medical Research, UW Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.<label>2</label>Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.<label>3</label>McArdle Laboratory for Cancer Research, Madison, Wisconsin, USA.<label>4</label>Hematology Section, Department of Laboratory Medicine, NIH Clinical Center, Bethesda, Maryland, USA.<label>5</label>Departments of Biostatistics and Medical Informatics and Statistics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.</aff><author-notes><corresp>Address correspondence to: Emery H. Bresnick, University of Wisconsin School of Medicine and Public Health, UW Carbone Cancer Center, 4009 Wisconsin Institutes for Medical Research, 1111 Highland Avenue, Madison, Wisconsin 53705, USA. Phone: 608.265.6446; Fax: 608.262.4598; E-mail:
<email>ehbresni@wisc.edu</email>. Or to: Steven Holland, NIH, NIAID, Laboratory of Clinical Infectious Diseases, CRC B3-4141, MSC 1684, Bethesda, Maryland 20892, USA. Phone: 301.451.9019; Fax: 301.480.4507; E-mail:
<email>SHOLLAND@niaid.nih.gov</email>. Or to: Jing Zhang, University of Wisconsin School of Medicine and Public Health, 417a McArdle Laboratory for Cancer Research, 1400 University Avenue, Madison, Wisconsin 53706, USA. Phone: 608.263.1147; Fax: 608.262.2824; E-mail:
<email>zhang@oncology.wisc.edu</email>.
</corresp><fn><p><bold>Authorship note:</bold> Kirby D. Johnson, Amy P. Hsu, and Myung-Jeom Ryu contributed equally to this work.
</p></fn></author-notes><pub-date pub-type="epub"><day>10</day><month>9</month><year>2012</year></pub-date><pub-date pub-type="ppub"><day>1</day><month>10</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>10</day><month>9</month><year>2012</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>122</volume><issue>10</issue><fpage>3692</fpage><lpage>3704</lpage><history><date date-type="received"><day>25</day><month>10</month><year>2011</year></date><date date-type="accepted"><day>19</day><month>7</month><year>2012</year></date></history><permissions><copyright-statement>Copyright © 2012, American Society for Clinical Investigation</copyright-statement><copyright-year>2012</copyright-year></permissions><abstract><p>Haploinsufficiency for <italic>GATA2</italic> causes human immunodeficiency syndromes characterized by mycobacterial infection, myelodysplasia, lymphedema, or aplastic anemia that progress to myeloid leukemia. <italic>GATA2</italic> encodes a master regulator of hematopoiesis that is also linked to endothelial biology. Though the disease-causing mutations commonly occur in the GATA-2 DNA binding domain, we identified a patient with mycobacterial infection and myelodysplasia who had an uncharacterized heterozygous deletion in a <italic>GATA2</italic><italic>cis</italic>-element consisting of an E-box and a GATA motif. Targeted deletion of the equivalent murine element to yield homozygous mutant mice revealed embryonic lethality later than occurred with global <italic>Gata2</italic> knockout, hematopoietic stem/progenitor cell depletion, and impaired vascular integrity. Heterozygous mutant mice were viable, but embryos exhibited deficits in definitive, but not primitive, hematopoietic stem/progenitor activity and reduced expression of <italic>Gata2</italic> and its target genes. Mechanistic analysis revealed disruption of the endothelial cell transcriptome and loss of vascular integrity. Thus, the composite element disrupted in a human immunodeficiency is essential for establishment of the murine hematopoietic stem/progenitor cell compartment in the fetal liver and for essential vascular processes.
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