Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development.
Identifieur interne : 002D38 ( Main/Exploration ); précédent : 002D37; suivant : 002D39Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development.
Auteurs : Joëlle Kartopawiro [Australie] ; Neil I. Bower ; Tara Karnezis ; Jan Kazenwadel ; Kelly L. Betterman ; Emmanuelle Lesieur ; Katarzyna Koltowska ; Jonathan Astin ; Philip Crosier ; Sonja Vermeren ; Marc G. Achen ; Steven A. Stacker ; Kelly A. Smith ; Natasha L. Harvey ; Mathias François ; Benjamin M. HoganSource :
- Human molecular genetics [ 1460-2083 ] ; 2014.
Descripteurs français
- KwdFr :
- Animaux, Cellules endothéliales (métabolisme), Danio zébré, Facteur de croissance endothéliale vasculaire de type C (génétique), Facteur de croissance endothéliale vasculaire de type C (métabolisme), Facteurs de transcription SOX-F (génétique), Facteurs de transcription SOX-F (métabolisme), Femelle, Hypotrichose (génétique), Lymphangiogenèse (génétique), Lymphoedème (génétique), Modèles animaux de maladie humaine, Mouvement cellulaire (génétique), Protéines adaptatrices de la transduction du signal (génétique), Protéines adaptatrices de la transduction du signal (métabolisme), Protéines d'activation de la GTPase (génétique), Protéines d'activation de la GTPase (métabolisme), Régulation de l'expression des gènes, Souris, Souris knockout, Syndrome, Télangiectasie (génétique), Vaisseaux lymphatiques (métabolisme).
- MESH :
- génétique : Facteur de croissance endothéliale vasculaire de type C, Facteurs de transcription SOX-F, Hypotrichose, Lymphangiogenèse, Lymphoedème, Mouvement cellulaire, Protéines adaptatrices de la transduction du signal, Protéines d'activation de la GTPase, Télangiectasie.
- métabolisme : Cellules endothéliales, Facteur de croissance endothéliale vasculaire de type C, Facteurs de transcription SOX-F, Protéines adaptatrices de la transduction du signal, Protéines d'activation de la GTPase, Vaisseaux lymphatiques.
- Animaux, Danio zébré, Femelle, Modèles animaux de maladie humaine, Régulation de l'expression des gènes, Souris, Souris knockout, Syndrome.
English descriptors
- KwdEn :
- Adaptor Proteins, Signal Transducing (genetics), Adaptor Proteins, Signal Transducing (metabolism), Animals, Cell Movement (genetics), Disease Models, Animal, Endothelial Cells (metabolism), Female, GTPase-Activating Proteins (genetics), GTPase-Activating Proteins (metabolism), Gene Expression Regulation, Hypotrichosis (genetics), Lymphangiogenesis (genetics), Lymphatic Vessels (metabolism), Lymphedema (genetics), Mice, Mice, Knockout, SOXF Transcription Factors (genetics), SOXF Transcription Factors (metabolism), Syndrome, Telangiectasis (genetics), Vascular Endothelial Growth Factor C (genetics), Vascular Endothelial Growth Factor C (metabolism), Zebrafish.
- MESH :
- chemical , genetics : Adaptor Proteins, Signal Transducing, GTPase-Activating Proteins, SOXF Transcription Factors, Vascular Endothelial Growth Factor C.
- chemical , metabolism : Adaptor Proteins, Signal Transducing, GTPase-Activating Proteins, SOXF Transcription Factors, Vascular Endothelial Growth Factor C.
- genetics : Cell Movement, Hypotrichosis, Lymphangiogenesis, Lymphedema, Telangiectasis.
- metabolism : Endothelial Cells, Lymphatic Vessels.
- Animals, Disease Models, Animal, Female, Gene Expression Regulation, Mice, Mice, Knockout, Syndrome, Zebrafish.
Abstract
Mutations in SOX18, VEGFC and Vascular Endothelial Growth Factor 3 underlie the hereditary lymphatic disorders hypotrichosis-lymphedema-telangiectasia (HLT), Milroy-like lymphedema and Milroy disease, respectively. Genes responsible for hereditary lymphedema are key regulators of lymphatic vascular development in the embryo. To identify novel modulators of lymphangiogenesis, we used a mouse model of HLT (Ragged Opossum) and performed gene expression profiling of aberrant dermal lymphatic vessels. Expression studies and functional analysis in zebrafish and mice revealed one candidate, ArfGAP with RhoGAP domain, Ankyrin repeat and PH domain 3 (ARAP3), which is down-regulated in HLT mouse lymphatic vessels and necessary for lymphatic vascular development in mice and zebrafish. We position this known regulator of cell behaviour during migration as a mediator of the cellular response to Vegfc signalling in lymphatic endothelial cells in vitro and in vivo. Our data refine common mechanisms that are likely to contribute during both development and the pathogenesis of lymphatic vascular disorders.
DOI: 10.1093/hmg/ddt518
PubMed: 24163130
Affiliations:
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Bower</name></author><author><name sortKey="Karnezis, Tara" sort="Karnezis, Tara" uniqKey="Karnezis T" first="Tara" last="Karnezis">Tara Karnezis</name></author><author><name sortKey="Kazenwadel, Jan" sort="Kazenwadel, Jan" uniqKey="Kazenwadel J" first="Jan" last="Kazenwadel">Jan Kazenwadel</name></author><author><name sortKey="Betterman, Kelly L" sort="Betterman, Kelly L" uniqKey="Betterman K" first="Kelly L" last="Betterman">Kelly L. Betterman</name></author><author><name sortKey="Lesieur, Emmanuelle" sort="Lesieur, Emmanuelle" uniqKey="Lesieur E" first="Emmanuelle" last="Lesieur">Emmanuelle Lesieur</name></author><author><name sortKey="Koltowska, Katarzyna" sort="Koltowska, Katarzyna" uniqKey="Koltowska K" first="Katarzyna" last="Koltowska">Katarzyna Koltowska</name></author><author><name sortKey="Astin, Jonathan" sort="Astin, Jonathan" uniqKey="Astin J" first="Jonathan" last="Astin">Jonathan Astin</name></author><author><name sortKey="Crosier, Philip" sort="Crosier, Philip" uniqKey="Crosier P" first="Philip" last="Crosier">Philip Crosier</name></author><author><name sortKey="Vermeren, Sonja" sort="Vermeren, Sonja" uniqKey="Vermeren S" first="Sonja" last="Vermeren">Sonja Vermeren</name></author><author><name sortKey="Achen, Marc G" sort="Achen, Marc G" uniqKey="Achen M" first="Marc G" last="Achen">Marc G. 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Hogan</name></author></analytic><series><title level="j">Human molecular genetics</title><idno type="eISSN">1460-2083</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adaptor Proteins, Signal Transducing (genetics)</term><term>Adaptor Proteins, Signal Transducing (metabolism)</term><term>Animals</term><term>Cell Movement (genetics)</term><term>Disease Models, Animal</term><term>Endothelial Cells (metabolism)</term><term>Female</term><term>GTPase-Activating Proteins (genetics)</term><term>GTPase-Activating Proteins (metabolism)</term><term>Gene Expression Regulation</term><term>Hypotrichosis (genetics)</term><term>Lymphangiogenesis (genetics)</term><term>Lymphatic Vessels (metabolism)</term><term>Lymphedema (genetics)</term><term>Mice</term><term>Mice, Knockout</term><term>SOXF Transcription Factors (genetics)</term><term>SOXF Transcription Factors (metabolism)</term><term>Syndrome</term><term>Telangiectasis (genetics)</term><term>Vascular Endothelial Growth Factor C (genetics)</term><term>Vascular Endothelial Growth Factor C (metabolism)</term><term>Zebrafish</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term><term>Cellules endothéliales (métabolisme)</term><term>Danio zébré</term><term>Facteur de croissance endothéliale vasculaire de type C (génétique)</term><term>Facteur de croissance endothéliale vasculaire de type C (métabolisme)</term><term>Facteurs de transcription SOX-F (génétique)</term><term>Facteurs de transcription SOX-F (métabolisme)</term><term>Femelle</term><term>Hypotrichose (génétique)</term><term>Lymphangiogenèse (génétique)</term><term>Lymphoedème (génétique)</term><term>Modèles animaux de maladie humaine</term><term>Mouvement cellulaire (génétique)</term><term>Protéines adaptatrices de la transduction du signal (génétique)</term><term>Protéines adaptatrices de la transduction du signal (métabolisme)</term><term>Protéines d'activation de la GTPase (génétique)</term><term>Protéines d'activation de la GTPase (métabolisme)</term><term>Régulation de l'expression des gènes</term><term>Souris</term><term>Souris knockout</term><term>Syndrome</term><term>Télangiectasie (génétique)</term><term>Vaisseaux lymphatiques (métabolisme)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Adaptor Proteins, Signal Transducing</term><term>GTPase-Activating Proteins</term><term>SOXF Transcription Factors</term><term>Vascular Endothelial Growth Factor C</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Adaptor Proteins, Signal Transducing</term><term>GTPase-Activating Proteins</term><term>SOXF Transcription Factors</term><term>Vascular Endothelial Growth Factor C</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cell Movement</term><term>Hypotrichosis</term><term>Lymphangiogenesis</term><term>Lymphedema</term><term>Telangiectasis</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteur de croissance endothéliale vasculaire de type C</term><term>Facteurs de transcription SOX-F</term><term>Hypotrichose</term><term>Lymphangiogenèse</term><term>Lymphoedème</term><term>Mouvement cellulaire</term><term>Protéines adaptatrices de la transduction du signal</term><term>Protéines d'activation de la GTPase</term><term>Télangiectasie</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Endothelial Cells</term><term>Lymphatic Vessels</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Cellules endothéliales</term><term>Facteur de croissance endothéliale vasculaire de type C</term><term>Facteurs de transcription SOX-F</term><term>Protéines adaptatrices de la transduction du signal</term><term>Protéines d'activation de la GTPase</term><term>Vaisseaux lymphatiques</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Disease Models, Animal</term><term>Female</term><term>Gene Expression Regulation</term><term>Mice</term><term>Mice, Knockout</term><term>Syndrome</term><term>Zebrafish</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Animaux</term><term>Danio zébré</term><term>Femelle</term><term>Modèles animaux de maladie humaine</term><term>Régulation de l'expression des gènes</term><term>Souris</term><term>Souris knockout</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in SOX18, VEGFC and Vascular Endothelial Growth Factor 3 underlie the hereditary lymphatic disorders hypotrichosis-lymphedema-telangiectasia (HLT), Milroy-like lymphedema and Milroy disease, respectively. Genes responsible for hereditary lymphedema are key regulators of lymphatic vascular development in the embryo. To identify novel modulators of lymphangiogenesis, we used a mouse model of HLT (Ragged Opossum) and performed gene expression profiling of aberrant dermal lymphatic vessels. Expression studies and functional analysis in zebrafish and mice revealed one candidate, ArfGAP with RhoGAP domain, Ankyrin repeat and PH domain 3 (ARAP3), which is down-regulated in HLT mouse lymphatic vessels and necessary for lymphatic vascular development in mice and zebrafish. We position this known regulator of cell behaviour during migration as a mediator of the cellular response to Vegfc signalling in lymphatic endothelial cells in vitro and in vivo. Our data refine common mechanisms that are likely to contribute during both development and the pathogenesis of lymphatic vascular disorders.</div></front></TEI><affiliations><list><country><li>Australie</li></country></list><tree><noCountry><name sortKey="Achen, Marc G" sort="Achen, Marc G" uniqKey="Achen M" first="Marc G" last="Achen">Marc G. Achen</name><name sortKey="Astin, Jonathan" sort="Astin, Jonathan" uniqKey="Astin J" first="Jonathan" last="Astin">Jonathan Astin</name><name sortKey="Betterman, Kelly L" sort="Betterman, Kelly L" uniqKey="Betterman K" first="Kelly L" last="Betterman">Kelly L. Betterman</name><name sortKey="Bower, Neil I" sort="Bower, Neil I" uniqKey="Bower N" first="Neil I" last="Bower">Neil I. Bower</name><name sortKey="Crosier, Philip" sort="Crosier, Philip" uniqKey="Crosier P" first="Philip" last="Crosier">Philip Crosier</name><name sortKey="Francois, Mathias" sort="Francois, Mathias" uniqKey="Francois M" first="Mathias" last="François">Mathias François</name><name sortKey="Harvey, Natasha L" sort="Harvey, Natasha L" uniqKey="Harvey N" first="Natasha L" last="Harvey">Natasha L. Harvey</name><name sortKey="Hogan, Benjamin M" sort="Hogan, Benjamin M" uniqKey="Hogan B" first="Benjamin M" last="Hogan">Benjamin M. Hogan</name><name sortKey="Karnezis, Tara" sort="Karnezis, Tara" uniqKey="Karnezis T" first="Tara" last="Karnezis">Tara Karnezis</name><name sortKey="Kazenwadel, Jan" sort="Kazenwadel, Jan" uniqKey="Kazenwadel J" first="Jan" last="Kazenwadel">Jan Kazenwadel</name><name sortKey="Koltowska, Katarzyna" sort="Koltowska, Katarzyna" uniqKey="Koltowska K" first="Katarzyna" last="Koltowska">Katarzyna Koltowska</name><name sortKey="Lesieur, Emmanuelle" sort="Lesieur, Emmanuelle" uniqKey="Lesieur E" first="Emmanuelle" last="Lesieur">Emmanuelle Lesieur</name><name sortKey="Smith, Kelly A" sort="Smith, Kelly A" uniqKey="Smith K" first="Kelly A" last="Smith">Kelly A. Smith</name><name sortKey="Stacker, Steven A" sort="Stacker, Steven A" uniqKey="Stacker S" first="Steven A" last="Stacker">Steven A. Stacker</name><name sortKey="Vermeren, Sonja" sort="Vermeren, Sonja" uniqKey="Vermeren S" first="Sonja" last="Vermeren">Sonja Vermeren</name></noCountry><country name="Australie"><noRegion><name sortKey="Kartopawiro, Joelle" sort="Kartopawiro, Joelle" uniqKey="Kartopawiro J" first="Joëlle" last="Kartopawiro">Joëlle Kartopawiro</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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