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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia</title><author><name sortKey="Kile, Benjamin T" sort="Kile, Benjamin T" uniqKey="Kile B" first="Benjamin T." last="Kile">Benjamin T. Kile</name><affiliation><nlm:aff id="aff1">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX;</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Department of Medical Biology, The University of Melbourne, Parkville, Australia;</nlm:aff></affiliation></author><author><name sortKey="Panopoulos, Athanasia D" sort="Panopoulos, Athanasia D" uniqKey="Panopoulos A" first="Athanasia D." last="Panopoulos">Athanasia D. Panopoulos</name><affiliation><nlm:aff id="aff4">Department of Immunology, M. D. Anderson Cancer Center, Houston, TX;</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Graduate School of Biomedical Sciences, University of Texas, Houston;</nlm:aff></affiliation></author><author><name sortKey="Stirzaker, Roslynn A" sort="Stirzaker, Roslynn A" uniqKey="Stirzaker R" first="Roslynn A." last="Stirzaker">Roslynn A. Stirzaker</name><affiliation><nlm:aff wicri:cut=", and" id="aff2">Division of Molecular Medicine, The Walter and Eliza Hall Institute of Medical Research</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Department of Medical Biology, The University of Melbourne, Parkville, Australia;</nlm:aff></affiliation></author><author><name sortKey="Hacking, Douglas F" sort="Hacking, Douglas F" uniqKey="Hacking D" first="Douglas F." last="Hacking">Douglas F. Hacking</name><affiliation><nlm:aff wicri:cut=", and" id="aff2">Division of Molecular Medicine, The Walter and Eliza Hall Institute of Medical Research</nlm:aff></affiliation></author><author><name sortKey="Tahtamouni, Lubna H" sort="Tahtamouni, Lubna H" uniqKey="Tahtamouni L" first="Lubna H." last="Tahtamouni">Lubna H. Tahtamouni</name><affiliation><nlm:aff id="aff6">Department of Biological Sciences and Biotechnology, Hashemite University, Zarqua, Jordan;</nlm:aff></affiliation></author><author><name sortKey="Willson, Tracy A" sort="Willson, Tracy A" uniqKey="Willson T" first="Tracy A." last="Willson">Tracy A. Willson</name><affiliation><nlm:aff wicri:cut=", and" id="aff2">Division of Molecular Medicine, The Walter and Eliza Hall Institute of Medical Research</nlm:aff></affiliation></author><author><name sortKey="Mielke, Lisa A" sort="Mielke, Lisa A" uniqKey="Mielke L" first="Lisa A." last="Mielke">Lisa A. Mielke</name><affiliation><nlm:aff id="aff3">Department of Medical Biology, The University of Melbourne, Parkville, Australia;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff7">Cancer and Hematology</nlm:aff></affiliation></author><author><name sortKey="Henley, Katya J" sort="Henley, Katya J" uniqKey="Henley K" first="Katya J." last="Henley">Katya J. Henley</name><affiliation><nlm:aff wicri:cut=", and" id="aff2">Division of Molecular Medicine, The Walter and Eliza Hall Institute of Medical Research</nlm:aff></affiliation></author><author><name sortKey="Zhang, Jian Guo" sort="Zhang, Jian Guo" uniqKey="Zhang J" first="Jian-Guo" last="Zhang">Jian-Guo Zhang</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Cancer and Hematology</nlm:aff></affiliation></author><author><name sortKey="Wicks, Ian P" sort="Wicks, Ian P" uniqKey="Wicks I" first="Ian P." last="Wicks">Ian P. Wicks</name><affiliation><nlm:aff id="aff8">Autoimmunity and Transplantation Divisions, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia;</nlm:aff></affiliation></author><author><name sortKey="Stevenson, William S" sort="Stevenson, William S" uniqKey="Stevenson W" first="William S." last="Stevenson">William S. Stevenson</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Cancer and Hematology</nlm:aff></affiliation></author><author><name sortKey="Nurden, Paquita" sort="Nurden, Paquita" uniqKey="Nurden P" first="Paquita" last="Nurden">Paquita Nurden</name><affiliation><nlm:aff id="aff9">Centre de Référence des Pathologies Plaquettaires, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France</nlm:aff></affiliation></author><author><name sortKey="Watowich, Stephanie S" sort="Watowich, Stephanie S" uniqKey="Watowich S" first="Stephanie S." last="Watowich">Stephanie S. Watowich</name><affiliation><nlm:aff id="aff4">Department of Immunology, M. D. Anderson Cancer Center, Houston, TX;</nlm:aff></affiliation></author><author><name sortKey="Justice, Monica J" sort="Justice, Monica J" uniqKey="Justice M" first="Monica J." last="Justice">Monica J. Justice</name><affiliation><nlm:aff id="aff1">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX;</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">17515402</idno><idno type="pmc">1988957</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1988957</idno><idno type="RBID">PMC:1988957</idno><idno type="doi">10.1182/blood-2006-10-055087</idno><date when="2007">2007</date><idno type="wicri:Area/Pmc/Corpus">001374</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001374</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia</title><author><name sortKey="Kile, Benjamin T" sort="Kile, Benjamin T" uniqKey="Kile B" first="Benjamin T." last="Kile">Benjamin T. Kile</name><affiliation><nlm:aff id="aff1">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX;</nlm:aff></affiliation><affiliation><nlm:aff>NONE</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Department of Medical Biology, The University of Melbourne, Parkville, Australia;</nlm:aff></affiliation></author><author><name sortKey="Panopoulos, Athanasia D" sort="Panopoulos, Athanasia D" uniqKey="Panopoulos A" first="Athanasia D." last="Panopoulos">Athanasia D. Panopoulos</name><affiliation><nlm:aff id="aff4">Department of Immunology, M. D. Anderson Cancer Center, Houston, TX;</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Graduate School of Biomedical Sciences, University of Texas, Houston;</nlm:aff></affiliation></author><author><name sortKey="Stirzaker, Roslynn A" sort="Stirzaker, Roslynn A" uniqKey="Stirzaker R" first="Roslynn A." last="Stirzaker">Roslynn A. Stirzaker</name><affiliation><nlm:aff wicri:cut=", and" id="aff2">Division of Molecular Medicine, The Walter and Eliza Hall Institute of Medical Research</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Department of Medical Biology, The University of Melbourne, Parkville, Australia;</nlm:aff></affiliation></author><author><name sortKey="Hacking, Douglas F" sort="Hacking, Douglas F" uniqKey="Hacking D" first="Douglas F." last="Hacking">Douglas F. Hacking</name><affiliation><nlm:aff wicri:cut=", and" id="aff2">Division of Molecular Medicine, The Walter and Eliza Hall Institute of Medical Research</nlm:aff></affiliation></author><author><name sortKey="Tahtamouni, Lubna H" sort="Tahtamouni, Lubna H" uniqKey="Tahtamouni L" first="Lubna H." last="Tahtamouni">Lubna H. Tahtamouni</name><affiliation><nlm:aff id="aff6">Department of Biological Sciences and Biotechnology, Hashemite University, Zarqua, Jordan;</nlm:aff></affiliation></author><author><name sortKey="Willson, Tracy A" sort="Willson, Tracy A" uniqKey="Willson T" first="Tracy A." last="Willson">Tracy A. Willson</name><affiliation><nlm:aff wicri:cut=", and" id="aff2">Division of Molecular Medicine, The Walter and Eliza Hall Institute of Medical Research</nlm:aff></affiliation></author><author><name sortKey="Mielke, Lisa A" sort="Mielke, Lisa A" uniqKey="Mielke L" first="Lisa A." last="Mielke">Lisa A. Mielke</name><affiliation><nlm:aff id="aff3">Department of Medical Biology, The University of Melbourne, Parkville, Australia;</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=", and" id="aff7">Cancer and Hematology</nlm:aff></affiliation></author><author><name sortKey="Henley, Katya J" sort="Henley, Katya J" uniqKey="Henley K" first="Katya J." last="Henley">Katya J. Henley</name><affiliation><nlm:aff wicri:cut=", and" id="aff2">Division of Molecular Medicine, The Walter and Eliza Hall Institute of Medical Research</nlm:aff></affiliation></author><author><name sortKey="Zhang, Jian Guo" sort="Zhang, Jian Guo" uniqKey="Zhang J" first="Jian-Guo" last="Zhang">Jian-Guo Zhang</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Cancer and Hematology</nlm:aff></affiliation></author><author><name sortKey="Wicks, Ian P" sort="Wicks, Ian P" uniqKey="Wicks I" first="Ian P." last="Wicks">Ian P. Wicks</name><affiliation><nlm:aff id="aff8">Autoimmunity and Transplantation Divisions, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia;</nlm:aff></affiliation></author><author><name sortKey="Stevenson, William S" sort="Stevenson, William S" uniqKey="Stevenson W" first="William S." last="Stevenson">William S. Stevenson</name><affiliation><nlm:aff wicri:cut=", and" id="aff7">Cancer and Hematology</nlm:aff></affiliation></author><author><name sortKey="Nurden, Paquita" sort="Nurden, Paquita" uniqKey="Nurden P" first="Paquita" last="Nurden">Paquita Nurden</name><affiliation><nlm:aff id="aff9">Centre de Référence des Pathologies Plaquettaires, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France</nlm:aff></affiliation></author><author><name sortKey="Watowich, Stephanie S" sort="Watowich, Stephanie S" uniqKey="Watowich S" first="Stephanie S." last="Watowich">Stephanie S. Watowich</name><affiliation><nlm:aff id="aff4">Department of Immunology, M. D. Anderson Cancer Center, Houston, TX;</nlm:aff></affiliation></author><author><name sortKey="Justice, Monica J" sort="Justice, Monica J" uniqKey="Justice M" first="Monica J." last="Justice">Monica J. Justice</name><affiliation><nlm:aff id="aff1">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX;</nlm:aff></affiliation></author></analytic><series><title level="j">Blood</title><idno type="ISSN">0006-4971</idno><idno type="eISSN">1528-0020</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>A pivotal mediator of actin dynamics is the protein cofilin, which promotes filament severing and depolymerization, facilitating the breakdown of existing filaments, and the enhancement of filament growth from newly created barbed ends. It does so in concert with actin interacting protein 1 (Aip1), which serves to accelerate cofilin's activity. While progress has been made in understanding its biochemical functions, the physiologic processes the cofilin/Aip1 complex regulates, particularly in higher organisms, are yet to be determined. We have generated an allelic series for WD40 repeat protein 1 (Wdr1), the mammalian homolog of Aip1, and report that reductions in Wdr1 function produce a dramatic phenotype gradient. While severe loss of function at the <italic>Wdr1</italic> locus causes embryonic lethality, macrothrombocytopenia and autoinflammatory disease develop in mice carrying hypomorphic alleles. Macrothrombocytopenia is the result of megakaryocyte maturation defects, which lead to a failure of normal platelet shedding. Autoinflammatory disease, which is bone marrow–derived yet nonlymphoid in origin, is characterized by a massive infiltration of neutrophils into inflammatory lesions. Cytoskeletal responses are impaired in Wdr1 mutant neutrophils. These studies establish an essential requirement for Wdr1 in megakaryocytes and neutrophils, indicating that cofilin-mediated actin dynamics are critically important to the development and function of both cell types.</p></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><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">Blood</journal-id><journal-id journal-id-type="hwp">bloodjournal</journal-id><journal-id journal-id-type="pmc">blood</journal-id><journal-id journal-id-type="publisher-id">Blood</journal-id><journal-title>Blood</journal-title><issn pub-type="ppub">0006-4971</issn><issn pub-type="epub">1528-0020</issn><publisher><publisher-name>American Society of Hematology</publisher-name><publisher-loc>Washington, DC</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">17515402</article-id><article-id pub-id-type="pmc">1988957</article-id><article-id pub-id-type="publisher-id">2006/055087</article-id><article-id pub-id-type="doi">10.1182/blood-2006-10-055087</article-id><article-categories><subj-group subj-group-type="heading"><subject>Hematopoiesis</subject></subj-group><series-title>Hematopoiesis</series-title></article-categories><title-group><article-title>Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Kile</surname><given-names>Benjamin T.</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2"></xref><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Panopoulos</surname><given-names>Athanasia D.</given-names></name><xref ref-type="aff" rid="aff4">4</xref><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Stirzaker</surname><given-names>Roslynn A.</given-names></name><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Hacking</surname><given-names>Douglas F.</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Tahtamouni</surname><given-names>Lubna H.</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Willson</surname><given-names>Tracy A.</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Mielke</surname><given-names>Lisa A.</given-names></name><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Henley</surname><given-names>Katya J.</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Zhang</surname><given-names>Jian-Guo</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Wicks</surname><given-names>Ian P.</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>Stevenson</surname><given-names>William S.</given-names></name><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Nurden</surname><given-names>Paquita</given-names></name><xref ref-type="aff" rid="aff9">9</xref></contrib><contrib contrib-type="author"><name><surname>Watowich</surname><given-names>Stephanie S.</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Justice</surname><given-names>Monica J.</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><aff id="aff1"><label>1</label>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX;</aff><aff id="aff2"><label>2</label>Division of Molecular Medicine, The Walter and Eliza Hall Institute of Medical Research, and</aff><aff id="aff3"><label>3</label>Department of Medical Biology, The University of Melbourne, Parkville, Australia;</aff><aff id="aff4"><label>4</label>Department of Immunology, M. D. Anderson Cancer Center, Houston, TX;</aff><aff id="aff5"><label>5</label>Graduate School of Biomedical Sciences, University of Texas, Houston;</aff><aff id="aff6"><label>6</label>Department of Biological Sciences and Biotechnology, Hashemite University, Zarqua, Jordan;</aff><aff id="aff7"><label>7</label>Cancer and Hematology, and</aff><aff id="aff8"><label>8</label>Autoimmunity and Transplantation Divisions, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia;</aff><aff id="aff9"><label>9</label>Centre de Référence des Pathologies Plaquettaires, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France</aff></contrib-group><pub-date pub-type="ppub"><day>1</day><month>10</month><year>2007</year></pub-date><pub-date pub-type="epreprint"><day>21</day><month>5</month><year>2007</year></pub-date><volume>110</volume><issue>7</issue><fpage>2371</fpage><lpage>2380</lpage><history><date date-type="received"><day>30</day><month>10</month><year>2006</year></date><date date-type="accepted"><day>16</day><month>5</month><year>2007</year></date></history><copyright-statement>© 2007 by The American Society of Hematology</copyright-statement><copyright-year>2007</copyright-year><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="zh801907002371.pdf"></self-uri><abstract><p>A pivotal mediator of actin dynamics is the protein cofilin, which promotes filament severing and depolymerization, facilitating the breakdown of existing filaments, and the enhancement of filament growth from newly created barbed ends. It does so in concert with actin interacting protein 1 (Aip1), which serves to accelerate cofilin's activity. While progress has been made in understanding its biochemical functions, the physiologic processes the cofilin/Aip1 complex regulates, particularly in higher organisms, are yet to be determined. We have generated an allelic series for WD40 repeat protein 1 (Wdr1), the mammalian homolog of Aip1, and report that reductions in Wdr1 function produce a dramatic phenotype gradient. While severe loss of function at the <italic>Wdr1</italic> locus causes embryonic lethality, macrothrombocytopenia and autoinflammatory disease develop in mice carrying hypomorphic alleles. Macrothrombocytopenia is the result of megakaryocyte maturation defects, which lead to a failure of normal platelet shedding. Autoinflammatory disease, which is bone marrow–derived yet nonlymphoid in origin, is characterized by a massive infiltration of neutrophils into inflammatory lesions. Cytoskeletal responses are impaired in Wdr1 mutant neutrophils. These studies establish an essential requirement for Wdr1 in megakaryocytes and neutrophils, indicating that cofilin-mediated actin dynamics are critically important to the development and function of both cell types.</p></abstract><contract-num rid="CS100">U01 HD39372</contract-num><contract-num rid="CS100">T32-CA-09598–16</contract-num><contract-sponsor id="CS100" xlink:href="http://www.nih.gov">National Institutes of Health</contract-sponsor></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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