LymphedemaV1, France, Analysis, bibRecord, 000217

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and Hereditary Hemorrhagic Telangiectasia

Identifieur interne : 000217 ( France/Analysis ); précédent : 000216; suivant : 000218

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and Hereditary Hemorrhagic Telangiectasia

Auteurs : Michael Benzinou [États-Unis] ; Frederic F. Clermont [États-Unis] ; Tom G. W. Letteboer [États-Unis, Pays-Bas] ; Jai-Hyun Kim [États-Unis] ; Silvia Espejel [États-Unis] ; Kelly A. Harradine [États-Unis] ; Juan Arbelaez [États-Unis] ; Minh Thu Luu [États-Unis] ; Ritu Roy [États-Unis] ; David Quigley [États-Unis] ; Mamie Nakayama Higgins [États-Unis] ; Musa Zaid [États-Unis] ; Bradley E. Aouizerat [États-Unis] ; Johannes Kristian Ploos Van Amstel [Pays-Bas] ; Sophie Giraud [France] ; Sophie Dupuis-Girod [France] ; Gaetan Lesca [France] ; Henri Plauchu [France] ; Christopher C. W. Hughes [États-Unis] ; Cornelius J. J. Westermann [Pays-Bas] ; Rosemary J. Akhurst [États-Unis]

Source :

Nature communications [ 2041-1723 ] ; 2012.

RBID : PMC:3509798

Abstract

HHT is a vascular dysplasia syndrome caused by mutations in TGF-β/BMP pathway genes, ENG and ACVRL1. HHT shows considerable variation in clinical manifestations, suggesting environmental and/or genetic modifier effects. Strain-specific penetrance of the vascular phenotypes of Eng+/− and Tgfb1−/− mice provides further support for genetic modification of TGF-β pathway deficits. We previously identified variant genomic loci, including Tgfbm2, which suppress prenatal vascular lethality of Tgfb1−/− mice. Here we show that human polymorphic variants of PTPN14 within the orthologous TGFBM2 locus influence clinical severity of HHT, as assessed by development of pulmonary arteriovenous malformation. We also show that PTPN14, ACVRL1 and EFNB2, encoding EphrinB2, show interdependent expression in primary arterial endothelial cells in vitro. This suggests an involvement of PTPN14 in angiogenesis and/or arteriovenous fate, acting via EphrinB2 and ACVRL/Alk-1. These findings contribute to a deeper understanding of the molecular pathology of HHT in particular and to angiogenesis in general.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509798

DOI: 10.1038/ncomms1633
PubMed: 22233626
PubMed Central: 3509798

Affiliations:

Links to Exploration step

PMC:3509798

Le document en format XML

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<author><name sortKey="Harradine, Kelly A" sort="Harradine, Kelly A" uniqKey="Harradine K" first="Kelly A." last="Harradine">Kelly A. Harradine</name>
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<country xml:lang="fr">États-Unis</country>
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<author><name sortKey="Arbelaez, Juan" sort="Arbelaez, Juan" uniqKey="Arbelaez J" first="Juan" last="Arbelaez">Juan Arbelaez</name>
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<author><name sortKey="Luu, Minh Thu" sort="Luu, Minh Thu" uniqKey="Luu M" first="Minh Thu" last="Luu">Minh Thu Luu</name>
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<affiliation wicri:level="1"><nlm:aff id="A4">UCSF HDFCCC Biostatistical Core Facility, San Francisco, CA, 94143, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>UCSF HDFCCC Biostatistical Core Facility, San Francisco, CA, 94143</wicri:regionArea>
<wicri:noRegion>94143</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Quigley, David" sort="Quigley, David" uniqKey="Quigley D" first="David" last="Quigley">David Quigley</name>
<affiliation wicri:level="1"><nlm:aff id="A1">UCSF Helen Diller Family Comprehensive Cancer Center (HDFCCC), San Francisco, CA 94158-9001, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>UCSF Helen Diller Family Comprehensive Cancer Center (HDFCCC), San Francisco, CA 94158-9001</wicri:regionArea>
<wicri:noRegion>CA 94158-9001</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Higgins, Mamie Nakayama" sort="Higgins, Mamie Nakayama" uniqKey="Higgins M" first="Mamie Nakayama" last="Higgins">Mamie Nakayama Higgins</name>
<affiliation wicri:level="1"><nlm:aff id="A1">UCSF Helen Diller Family Comprehensive Cancer Center (HDFCCC), San Francisco, CA 94158-9001, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>UCSF Helen Diller Family Comprehensive Cancer Center (HDFCCC), San Francisco, CA 94158-9001</wicri:regionArea>
<wicri:noRegion>CA 94158-9001</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zaid, Musa" sort="Zaid, Musa" uniqKey="Zaid M" first="Musa" last="Zaid">Musa Zaid</name>
<affiliation wicri:level="1"><nlm:aff id="A1">UCSF Helen Diller Family Comprehensive Cancer Center (HDFCCC), San Francisco, CA 94158-9001, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>UCSF Helen Diller Family Comprehensive Cancer Center (HDFCCC), San Francisco, CA 94158-9001</wicri:regionArea>
<wicri:noRegion>CA 94158-9001</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Aouizerat, Bradley E" sort="Aouizerat, Bradley E" uniqKey="Aouizerat B" first="Bradley E." last="Aouizerat">Bradley E. Aouizerat</name>
<affiliation wicri:level="1"><nlm:aff id="A5">UCSF Department of Physiological Nursing, San Francisco, CA, 94143, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>UCSF Department of Physiological Nursing, San Francisco, CA, 94143</wicri:regionArea>
<wicri:noRegion>94143</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A6">UCSF Institute of Human Genetics, San Francisco, CA, 94143, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>UCSF Institute of Human Genetics, San Francisco, CA, 94143</wicri:regionArea>
<wicri:noRegion>94143</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Amstel, Johannes Kristian Ploos" sort="Van Amstel, Johannes Kristian Ploos" uniqKey="Van Amstel J" first="Johannes Kristian Ploos" last="Van Amstel">Johannes Kristian Ploos Van Amstel</name>
<affiliation wicri:level="3"><nlm:aff id="A2">Department of Medical Genetics, University Medical Centre, KC04.084.2, Utrecht, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Medical Genetics, University Medical Centre, KC04.084.2, Utrecht</wicri:regionArea>
<placeName><settlement type="city">Utrecht</settlement>
<region nuts="2" type="province">Utrecht (province)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Giraud, Sophie" sort="Giraud, Sophie" uniqKey="Giraud S" first="Sophie" last="Giraud">Sophie Giraud</name>
<affiliation wicri:level="3"><nlm:aff id="A7">HHT French Reference Center, Hopital Cardiologique Louis Pradel, 69500, Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>HHT French Reference Center, Hopital Cardiologique Louis Pradel, 69500, Bron</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dupuis Girod, Sophie" sort="Dupuis Girod, Sophie" uniqKey="Dupuis Girod S" first="Sophie" last="Dupuis-Girod">Sophie Dupuis-Girod</name>
<affiliation wicri:level="3"><nlm:aff id="A7">HHT French Reference Center, Hopital Cardiologique Louis Pradel, 69500, Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>HHT French Reference Center, Hopital Cardiologique Louis Pradel, 69500, Bron</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaetan" last="Lesca">Gaetan Lesca</name>
<affiliation wicri:level="3"><nlm:aff id="A7">HHT French Reference Center, Hopital Cardiologique Louis Pradel, 69500, Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>HHT French Reference Center, Hopital Cardiologique Louis Pradel, 69500, Bron</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Plauchu, Henri" sort="Plauchu, Henri" uniqKey="Plauchu H" first="Henri" last="Plauchu">Henri Plauchu</name>
<affiliation wicri:level="3"><nlm:aff id="A7">HHT French Reference Center, Hopital Cardiologique Louis Pradel, 69500, Bron, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>HHT French Reference Center, Hopital Cardiologique Louis Pradel, 69500, Bron</wicri:regionArea>
<placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region>
<region type="old region" nuts="2">Rhône-Alpes</region>
<settlement type="city">Bron</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hughes, Christopher C W" sort="Hughes, Christopher C W" uniqKey="Hughes C" first="Christopher C. W." last="Hughes">Christopher C. W. Hughes</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Molecular Biology and Biochemistry, UC Irvine, CA, 92697, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Molecular Biology and Biochemistry, UC Irvine, CA, 92697</wicri:regionArea>
<wicri:noRegion>92697</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A8">Edwards Lifesciences Center for Advanced Cardiovascular Technology, Irvine, CA, 92697-2730, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Edwards Lifesciences Center for Advanced Cardiovascular Technology, Irvine, CA, 92697-2730</wicri:regionArea>
<wicri:noRegion>92697-2730</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Westermann, Cornelius J J" sort="Westermann, Cornelius J J" uniqKey="Westermann C" first="Cornelius J. J." last="Westermann">Cornelius J. J. Westermann</name>
<affiliation wicri:level="1"><nlm:aff id="A9">St. Antonius Hospital, 3430 EM, Nieuwegein, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>St. Antonius Hospital, 3430 EM, Nieuwegein</wicri:regionArea>
<wicri:noRegion>Nieuwegein</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Akhurst, Rosemary J" sort="Akhurst, Rosemary J" uniqKey="Akhurst R" first="Rosemary J." last="Akhurst">Rosemary J. Akhurst</name>
<affiliation wicri:level="1"><nlm:aff id="A1">UCSF Helen Diller Family Comprehensive Cancer Center (HDFCCC), San Francisco, CA 94158-9001, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>UCSF Helen Diller Family Comprehensive Cancer Center (HDFCCC), San Francisco, CA 94158-9001</wicri:regionArea>
<wicri:noRegion>CA 94158-9001</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A6">UCSF Institute of Human Genetics, San Francisco, CA, 94143, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>UCSF Institute of Human Genetics, San Francisco, CA, 94143</wicri:regionArea>
<wicri:noRegion>94143</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A10">UCSF Department of Anatomy, San Francisco, CA, 94143, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>UCSF Department of Anatomy, San Francisco, CA, 94143</wicri:regionArea>
<wicri:noRegion>94143</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Nature communications</title>
<idno type="eISSN">2041-1723</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 id="P1">HHT is a vascular dysplasia syndrome caused by mutations in TGF-β/BMP pathway genes, <italic>ENG</italic>
 and <italic>ACVRL1.</italic>
 HHT shows considerable variation in clinical manifestations, suggesting environmental and/or genetic modifier effects. Strain-specific penetrance of the vascular phenotypes of <italic>Eng+/−</italic>
 and <italic>Tgfb1−/−</italic>
 mice provides further support for genetic modification of TGF-β pathway deficits. We previously identified variant genomic loci, including <italic>Tgfbm2,</italic>
 which suppress prenatal vascular lethality of <italic>Tgfb1−/−</italic>
 mice. Here we show that human polymorphic variants of <italic>PTPN14</italic>
 within the orthologous <italic>TGFBM2</italic>
 locus influence clinical severity of HHT, as assessed by development of pulmonary arteriovenous malformation. We also show that <italic>PTPN14</italic>
, <italic>ACVRL1</italic>
 and <italic>EFNB2,</italic>
 encoding EphrinB2, show interdependent expression in primary arterial endothelial cells <italic>in vitro.</italic>
 This suggests an involvement of PTPN14 in angiogenesis and/or arteriovenous fate, acting <italic>via</italic>
 EphrinB2 and ACVRL/Alk-1. These findings contribute to a deeper understanding of the molecular pathology of HHT in particular and to angiogenesis in general.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
<li>Pays-Bas</li>
<li>États-Unis</li>
</country>
<region><li>Auvergne-Rhône-Alpes</li>
<li>Rhône-Alpes</li>
<li>Utrecht (province)</li>
</region>
<settlement><li>Bron</li>
<li>Utrecht</li>
</settlement>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Benzinou, Michael" sort="Benzinou, Michael" uniqKey="Benzinou M" first="Michael" last="Benzinou">Michael Benzinou</name>
</noRegion>
<name sortKey="Akhurst, Rosemary J" sort="Akhurst, Rosemary J" uniqKey="Akhurst R" first="Rosemary J." last="Akhurst">Rosemary J. Akhurst</name>
<name sortKey="Akhurst, Rosemary J" sort="Akhurst, Rosemary J" uniqKey="Akhurst R" first="Rosemary J." last="Akhurst">Rosemary J. Akhurst</name>
<name sortKey="Akhurst, Rosemary J" sort="Akhurst, Rosemary J" uniqKey="Akhurst R" first="Rosemary J." last="Akhurst">Rosemary J. Akhurst</name>
<name sortKey="Aouizerat, Bradley E" sort="Aouizerat, Bradley E" uniqKey="Aouizerat B" first="Bradley E." last="Aouizerat">Bradley E. Aouizerat</name>
<name sortKey="Aouizerat, Bradley E" sort="Aouizerat, Bradley E" uniqKey="Aouizerat B" first="Bradley E." last="Aouizerat">Bradley E. Aouizerat</name>
<name sortKey="Arbelaez, Juan" sort="Arbelaez, Juan" uniqKey="Arbelaez J" first="Juan" last="Arbelaez">Juan Arbelaez</name>
<name sortKey="Clermont, Frederic F" sort="Clermont, Frederic F" uniqKey="Clermont F" first="Frederic F." last="Clermont">Frederic F. Clermont</name>
<name sortKey="Espejel, Silvia" sort="Espejel, Silvia" uniqKey="Espejel S" first="Silvia" last="Espejel">Silvia Espejel</name>
<name sortKey="Harradine, Kelly A" sort="Harradine, Kelly A" uniqKey="Harradine K" first="Kelly A." last="Harradine">Kelly A. Harradine</name>
<name sortKey="Higgins, Mamie Nakayama" sort="Higgins, Mamie Nakayama" uniqKey="Higgins M" first="Mamie Nakayama" last="Higgins">Mamie Nakayama Higgins</name>
<name sortKey="Hughes, Christopher C W" sort="Hughes, Christopher C W" uniqKey="Hughes C" first="Christopher C. W." last="Hughes">Christopher C. W. Hughes</name>
<name sortKey="Hughes, Christopher C W" sort="Hughes, Christopher C W" uniqKey="Hughes C" first="Christopher C. W." last="Hughes">Christopher C. W. Hughes</name>
<name sortKey="Kim, Jai Hyun" sort="Kim, Jai Hyun" uniqKey="Kim J" first="Jai-Hyun" last="Kim">Jai-Hyun Kim</name>
<name sortKey="Letteboer, Tom G W" sort="Letteboer, Tom G W" uniqKey="Letteboer T" first="Tom G. W." last="Letteboer">Tom G. W. Letteboer</name>
<name sortKey="Luu, Minh Thu" sort="Luu, Minh Thu" uniqKey="Luu M" first="Minh Thu" last="Luu">Minh Thu Luu</name>
<name sortKey="Quigley, David" sort="Quigley, David" uniqKey="Quigley D" first="David" last="Quigley">David Quigley</name>
<name sortKey="Roy, Ritu" sort="Roy, Ritu" uniqKey="Roy R" first="Ritu" last="Roy">Ritu Roy</name>
<name sortKey="Zaid, Musa" sort="Zaid, Musa" uniqKey="Zaid M" first="Musa" last="Zaid">Musa Zaid</name>
</country>
<country name="Pays-Bas"><region name="Utrecht (province)"><name sortKey="Letteboer, Tom G W" sort="Letteboer, Tom G W" uniqKey="Letteboer T" first="Tom G. W." last="Letteboer">Tom G. W. Letteboer</name>
</region>
<name sortKey="Van Amstel, Johannes Kristian Ploos" sort="Van Amstel, Johannes Kristian Ploos" uniqKey="Van Amstel J" first="Johannes Kristian Ploos" last="Van Amstel">Johannes Kristian Ploos Van Amstel</name>
<name sortKey="Westermann, Cornelius J J" sort="Westermann, Cornelius J J" uniqKey="Westermann C" first="Cornelius J. J." last="Westermann">Cornelius J. J. Westermann</name>
</country>
<country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Giraud, Sophie" sort="Giraud, Sophie" uniqKey="Giraud S" first="Sophie" last="Giraud">Sophie Giraud</name>
</region>
<name sortKey="Dupuis Girod, Sophie" sort="Dupuis Girod, Sophie" uniqKey="Dupuis Girod S" first="Sophie" last="Dupuis-Girod">Sophie Dupuis-Girod</name>
<name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaetan" last="Lesca">Gaetan Lesca</name>
<name sortKey="Plauchu, Henri" sort="Plauchu, Henri" uniqKey="Plauchu H" first="Henri" last="Plauchu">Henri Plauchu</name>
</country>
</tree>
</affiliations>
</record>

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Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and Hereditary Hemorrhagic Telangiectasia

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and Hereditary Hemorrhagic Telangiectasia

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