Evidence for SH2 Domain-Containing 5′-Inositol Phosphatase-2 (SHIP2) Contributing to a Lymphatic Dysfunction
Identifieur interne : 002B05 ( Main/Exploration ); précédent : 002B04; suivant : 002B06Evidence for SH2 Domain-Containing 5′-Inositol Phosphatase-2 (SHIP2) Contributing to a Lymphatic Dysfunction
Auteurs : Germaine D. Agollah [États-Unis] ; Manuel L. Gonzalez-Garay [États-Unis] ; John C. Rasmussen [États-Unis] ; I-Chih Tan [États-Unis] ; Melissa B. Aldrich [États-Unis] ; Chinmay Darne [États-Unis] ; Caroline E. Fife [États-Unis] ; Renie Guilliod [États-Unis] ; Erik A. Maus [États-Unis] ; Philip D. King [États-Unis] ; Eva M. Sevick-Muraca [États-Unis]Source :
- PLoS ONE [ 1932-6203 ] ; 2014.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Analyse de séquence d'ADN, Cellules cultivées, Cellules endothéliales (anatomopathologie), Domaine d'homologie SRC, Facteur de croissance des hépatocytes (génétique), Femelle, Humains, Imagerie optique (), Lymphoedème (anatomopathologie), Lymphoedème (génétique), MAP Kinase Kinase Kinases (génétique), Mutation ponctuelle, Mâle, Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatases, Phosphoric monoester hydrolases (), Phosphoric monoester hydrolases (génétique), Sujet âgé, Système de signalisation des MAP kinases, Séquençage nucléotidique à haut débit ().
- MESH :
- anatomopathologie : Cellules endothéliales, Lymphoedème.
- génétique : Facteur de croissance des hépatocytes, Lymphoedème, MAP Kinase Kinase Kinases, Phosphoric monoester hydrolases.
- Adulte, Adulte d'âge moyen, Analyse de séquence d'ADN, Cellules cultivées, Domaine d'homologie SRC, Femelle, Humains, Imagerie optique, Mutation ponctuelle, Mâle, Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatases, Phosphoric monoester hydrolases, Sujet âgé, Système de signalisation des MAP kinases, Séquençage nucléotidique à haut débit.
English descriptors
- KwdEn :
- Adult, Aged, Cells, Cultured, Endothelial Cells (pathology), Female, Hepatocyte Growth Factor (genetics), High-Throughput Nucleotide Sequencing (methods), Humans, Lymphedema (genetics), Lymphedema (pathology), MAP Kinase Kinase Kinases (genetics), MAP Kinase Signaling System, Male, Middle Aged, Optical Imaging (methods), Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases, Phosphoric Monoester Hydrolases (chemistry), Phosphoric Monoester Hydrolases (genetics), Point Mutation, Sequence Analysis, DNA, src Homology Domains.
- MESH :
- chemical , chemistry : Phosphoric Monoester Hydrolases.
- chemical , genetics : Hepatocyte Growth Factor, MAP Kinase Kinase Kinases, Phosphoric Monoester Hydrolases.
- genetics : Lymphedema.
- methods : High-Throughput Nucleotide Sequencing, Optical Imaging.
- pathology : Endothelial Cells, Lymphedema.
- Adult, Aged, Cells, Cultured, Female, Humans, MAP Kinase Signaling System, Male, Middle Aged, Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases, Point Mutation, Sequence Analysis, DNA, src Homology Domains.
Abstract
The lymphatic vasculature plays a critical role in a number of disease conditions of increasing prevalence, such as autoimmune disorders, obesity, blood vascular diseases, and cancer metastases. Yet, unlike the blood vasculature, the tools available to interrogate the molecular basis of lymphatic dysfunction/disease have been lacking. More recently, investigators have reported that dysregulation of the PI3K pathway is involved in syndromic human diseases that involve abnormal lymphatic vasculatures, but there have been few compelling results that show the direct association of this molecular pathway with lymphatic dysfunction in humans. Using near-infrared fluorescence lymphatic imaging (NIRFLI) to phenotype and next generation sequencing (NGS) for unbiased genetic discovery in a family with non-syndromic lymphatic disease, we discovered a rare, novel mutation in
Url:
DOI: 10.1371/journal.pone.0112548
PubMed: 25383712
PubMed Central: 4226566
Affiliations:
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Le document en format XML
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Agollah</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>The University of Texas Graduate School of Biomedical Sciences at Houston, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>The University of Texas Graduate School of Biomedical Sciences at Houston, The University of Texas MD Anderson Cancer Center, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Gonzalez Garay, Manuel L" sort="Gonzalez Garay, Manuel L" uniqKey="Gonzalez Garay M" first="Manuel L." last="Gonzalez-Garay">Manuel L. 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Aldrich</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Darne, Chinmay" sort="Darne, Chinmay" uniqKey="Darne C" first="Chinmay" last="Darne">Chinmay Darne</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Fife, Caroline E" sort="Fife, Caroline E" uniqKey="Fife C" first="Caroline E." last="Fife">Caroline E. 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Agollah</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>The University of Texas Graduate School of Biomedical Sciences at Houston, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>The University of Texas Graduate School of Biomedical Sciences at Houston, The University of Texas MD Anderson Cancer Center, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Gonzalez Garay, Manuel L" sort="Gonzalez Garay, Manuel L" uniqKey="Gonzalez Garay M" first="Manuel L." last="Gonzalez-Garay">Manuel L. Gonzalez-Garay</name><affiliation wicri:level="2"><nlm:aff id="aff3"><addr-line>Division of Genomics and Bioinformatics, Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genomics and Bioinformatics, Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Rasmussen, John C" sort="Rasmussen, John C" uniqKey="Rasmussen J" first="John C." last="Rasmussen">John C. Rasmussen</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Tan, I Chih" sort="Tan, I Chih" uniqKey="Tan I" first="I-Chih" last="Tan">I-Chih Tan</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Aldrich, Melissa B" sort="Aldrich, Melissa B" uniqKey="Aldrich M" first="Melissa B." last="Aldrich">Melissa B. Aldrich</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Darne, Chinmay" sort="Darne, Chinmay" uniqKey="Darne C" first="Chinmay" last="Darne">Chinmay Darne</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Fife, Caroline E" sort="Fife, Caroline E" uniqKey="Fife C" first="Caroline E." last="Fife">Caroline E. Fife</name><affiliation wicri:level="2"><nlm:aff id="aff4"><addr-line>Memorial Hermann Hospital Center for Lymphedema Management, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Memorial Hermann Hospital Center for Lymphedema Management, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Guilliod, Renie" sort="Guilliod, Renie" uniqKey="Guilliod R" first="Renie" last="Guilliod">Renie Guilliod</name><affiliation wicri:level="2"><nlm:aff id="aff4"><addr-line>Memorial Hermann Hospital Center for Lymphedema Management, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Memorial Hermann Hospital Center for Lymphedema Management, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Maus, Erik A" sort="Maus, Erik A" uniqKey="Maus E" first="Erik A." last="Maus">Erik A. Maus</name><affiliation wicri:level="2"><nlm:aff id="aff4"><addr-line>Memorial Hermann Hospital Center for Lymphedema Management, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Memorial Hermann Hospital Center for Lymphedema Management, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="King, Philip D" sort="King, Philip D" uniqKey="King P" first="Philip D." last="King">Philip D. King</name><affiliation wicri:level="2"><nlm:aff id="aff5"><addr-line>Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, Michigan, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation></author><author><name sortKey="Sevick Muraca, Eva M" sort="Sevick Muraca, Eva M" uniqKey="Sevick Muraca E" first="Eva M." last="Sevick-Muraca">Eva M. Sevick-Muraca</name><affiliation wicri:level="2"><nlm:aff id="aff1"><addr-line>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas, United States of America</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Cells, Cultured</term><term>Endothelial Cells (pathology)</term><term>Female</term><term>Hepatocyte Growth Factor (genetics)</term><term>High-Throughput Nucleotide Sequencing (methods)</term><term>Humans</term><term>Lymphedema (genetics)</term><term>Lymphedema (pathology)</term><term>MAP Kinase Kinase Kinases (genetics)</term><term>MAP Kinase Signaling System</term><term>Male</term><term>Middle Aged</term><term>Optical Imaging (methods)</term><term>Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases</term><term>Phosphoric Monoester Hydrolases (chemistry)</term><term>Phosphoric Monoester Hydrolases (genetics)</term><term>Point Mutation</term><term>Sequence Analysis, DNA</term><term>src Homology Domains</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de séquence d'ADN</term><term>Cellules cultivées</term><term>Cellules endothéliales (anatomopathologie)</term><term>Domaine d'homologie SRC</term><term>Facteur de croissance des hépatocytes (génétique)</term><term>Femelle</term><term>Humains</term><term>Imagerie optique ()</term><term>Lymphoedème (anatomopathologie)</term><term>Lymphoedème (génétique)</term><term>MAP Kinase Kinase Kinases (génétique)</term><term>Mutation ponctuelle</term><term>Mâle</term><term>Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatases</term><term>Phosphoric monoester hydrolases ()</term><term>Phosphoric monoester hydrolases (génétique)</term><term>Sujet âgé</term><term>Système de signalisation des MAP kinases</term><term>Séquençage nucléotidique à haut débit ()</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>Phosphoric Monoester Hydrolases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Hepatocyte Growth Factor</term><term>MAP Kinase Kinase Kinases</term><term>Phosphoric Monoester Hydrolases</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Cellules endothéliales</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteur de croissance des hépatocytes</term><term>Lymphoedème</term><term>MAP Kinase Kinase Kinases</term><term>Phosphoric monoester hydrolases</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>High-Throughput Nucleotide Sequencing</term><term>Optical Imaging</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Endothelial Cells</term><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Cells, Cultured</term><term>Female</term><term>Humans</term><term>MAP Kinase Signaling System</term><term>Male</term><term>Middle Aged</term><term>Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases</term><term>Point Mutation</term><term>Sequence Analysis, DNA</term><term>src Homology Domains</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Analyse de séquence d'ADN</term><term>Cellules cultivées</term><term>Domaine d'homologie SRC</term><term>Femelle</term><term>Humains</term><term>Imagerie optique</term><term>Mutation ponctuelle</term><term>Mâle</term><term>Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatases</term><term>Phosphoric monoester hydrolases</term><term>Sujet âgé</term><term>Système de signalisation des MAP kinases</term><term>Séquençage nucléotidique à haut débit</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The lymphatic vasculature plays a critical role in a number of disease conditions of increasing prevalence, such as autoimmune disorders, obesity, blood vascular diseases, and cancer metastases. Yet, unlike the blood vasculature, the tools available to interrogate the molecular basis of lymphatic dysfunction/disease have been lacking. More recently, investigators have reported that dysregulation of the PI3K pathway is involved in syndromic human diseases that involve abnormal lymphatic vasculatures, but there have been few compelling results that show the direct association of this molecular pathway with lymphatic dysfunction in humans. Using near-infrared fluorescence lymphatic imaging (NIRFLI) to phenotype and next generation sequencing (NGS) for unbiased genetic discovery in a family with non-syndromic lymphatic disease, we discovered a rare, novel mutation in <italic>INPPL1</italic> that encodes the protein SHIP2, which is a negative regulator of the PI3K pathway, to be associated with lymphatic dysfunction in the family. <italic>In vitro</italic> interrogation shows that SHIP2 is directly associated with impairment of normal lymphatic endothelial cell (LEC) behavior and that SHIP2 associates with receptors that are associated in lymphedema, implicating its direct involvement in the lymphatic vasculature.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Alitalo, K" uniqKey="Alitalo K">K Alitalo</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Karpanen, T" uniqKey="Karpanen T">T Karpanen</name></author><author><name 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Ponzetto</name></author><author><name sortKey="Bardelli, A" uniqKey="Bardelli A">A Bardelli</name></author><author><name sortKey="Zhen, Z" uniqKey="Zhen Z">Z Zhen</name></author><author><name sortKey="Maina, F" uniqKey="Maina F">F Maina</name></author><author><name sortKey="Dalla Zonca, P" uniqKey="Dalla Zonca P">P dalla Zonca</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Coso, S" uniqKey="Coso S">S Coso</name></author><author><name sortKey="Zeng, Y" uniqKey="Zeng Y">Y Zeng</name></author><author><name sortKey="Opeskin, K" uniqKey="Opeskin K">K Opeskin</name></author><author><name sortKey="Williams, Ed" uniqKey="Williams E">ED Williams</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Michigan</li><li>Texas</li></region></list><tree><country name="États-Unis"><region name="Texas"><name sortKey="Agollah, Germaine D" sort="Agollah, Germaine D" uniqKey="Agollah G" first="Germaine D." last="Agollah">Germaine D. Agollah</name></region><name sortKey="Agollah, Germaine D" sort="Agollah, Germaine D" uniqKey="Agollah G" first="Germaine D." last="Agollah">Germaine D. Agollah</name><name sortKey="Aldrich, Melissa B" sort="Aldrich, Melissa B" uniqKey="Aldrich M" first="Melissa B." last="Aldrich">Melissa B. Aldrich</name><name sortKey="Darne, Chinmay" sort="Darne, Chinmay" uniqKey="Darne C" first="Chinmay" last="Darne">Chinmay Darne</name><name sortKey="Fife, Caroline E" sort="Fife, Caroline E" uniqKey="Fife C" first="Caroline E." last="Fife">Caroline E. Fife</name><name sortKey="Gonzalez Garay, Manuel L" sort="Gonzalez Garay, Manuel L" uniqKey="Gonzalez Garay M" first="Manuel L." last="Gonzalez-Garay">Manuel L. Gonzalez-Garay</name><name sortKey="Guilliod, Renie" sort="Guilliod, Renie" uniqKey="Guilliod R" first="Renie" last="Guilliod">Renie Guilliod</name><name sortKey="King, Philip D" sort="King, Philip D" uniqKey="King P" first="Philip D." last="King">Philip D. King</name><name sortKey="Maus, Erik A" sort="Maus, Erik A" uniqKey="Maus E" first="Erik A." last="Maus">Erik A. Maus</name><name sortKey="Rasmussen, John C" sort="Rasmussen, John C" uniqKey="Rasmussen J" first="John C." last="Rasmussen">John C. Rasmussen</name><name sortKey="Sevick Muraca, Eva M" sort="Sevick Muraca, Eva M" uniqKey="Sevick Muraca E" first="Eva M." last="Sevick-Muraca">Eva M. Sevick-Muraca</name><name sortKey="Tan, I Chih" sort="Tan, I Chih" uniqKey="Tan I" first="I-Chih" last="Tan">I-Chih Tan</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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