Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
Identifieur interne : 004A66 ( PubMed/Curation ); précédent : 004A65; suivant : 004A67Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
Auteurs : M J Karkkainen [Finlande] ; R E Ferrell ; E C Lawrence ; M A Kimak ; K L Levinson ; M A Mctigue ; K. Alitalo ; D N FinegoldSource :
- Nature genetics [ 1061-4036 ] ; 2000.
Descripteurs français
- KwdFr :
- Activation de la transcription (), Activation de la transcription (génétique), Allèles, Animaux, Chromosomes humains de la paire 5 (génétique), Données de séquences moléculaires, Facteur de croissance endothéliale vasculaire de type C, Facteurs de croissance endothéliale (pharmacologie), Femelle, Gènes dominants (génétique), Humains, Lignée cellulaire, Lymphoedème (), Lymphoedème (génétique), Lymphoedème (métabolisme), Modèles moléculaires, Mutation faux-sens (génétique), Mâle, Nourrisson, Nouveau-né, Pedigree, Phosphorylation (), Protéines de fusion recombinantes (), Protéines de fusion recombinantes (génétique), Protéines de fusion recombinantes (métabolisme), Période, Récepteur-3 au facteur croissance endothéliale vasculaire, Récepteurs de surface cellulaire (), Récepteurs de surface cellulaire (génétique), Récepteurs de surface cellulaire (métabolisme), Récepteurs à activité tyrosine kinase (), Récepteurs à activité tyrosine kinase (génétique), Récepteurs à activité tyrosine kinase (métabolisme), Souris, Stabilité enzymatique, Structure secondaire des protéines, Transduction du signal ().
- MESH :
- génétique : Activation de la transcription, Chromosomes humains de la paire 5, Gènes dominants, Lymphoedème, Mutation faux-sens, Protéines de fusion recombinantes, Récepteurs de surface cellulaire, Récepteurs à activité tyrosine kinase.
- métabolisme : Lymphoedème, Protéines de fusion recombinantes, Récepteurs de surface cellulaire, Récepteurs à activité tyrosine kinase.
- pharmacologie : Facteurs de croissance endothéliale.
- Activation de la transcription, Allèles, Animaux, Données de séquences moléculaires, Facteur de croissance endothéliale vasculaire de type C, Femelle, Humains, Lignée cellulaire, Lymphoedème, Modèles moléculaires, Mâle, Nourrisson, Nouveau-né, Pedigree, Phosphorylation, Protéines de fusion recombinantes, Période, Récepteur-3 au facteur croissance endothéliale vasculaire, Récepteurs de surface cellulaire, Récepteurs à activité tyrosine kinase, Souris, Stabilité enzymatique, Structure secondaire des protéines, Transduction du signal.
English descriptors
- KwdEn :
- Alleles, Animals, Cell Line, Chromosomes, Human, Pair 5 (genetics), Endothelial Growth Factors (pharmacology), Enzyme Stability, Female, Genes, Dominant (genetics), Half-Life, Humans, Infant, Infant, Newborn, Lymphedema (congenital), Lymphedema (genetics), Lymphedema (metabolism), Male, Mice, Models, Molecular, Molecular Sequence Data, Mutation, Missense (genetics), Pedigree, Phosphorylation (drug effects), Protein Structure, Secondary, Receptor Protein-Tyrosine Kinases (chemistry), Receptor Protein-Tyrosine Kinases (genetics), Receptor Protein-Tyrosine Kinases (metabolism), Receptors, Cell Surface (chemistry), Receptors, Cell Surface (genetics), Receptors, Cell Surface (metabolism), Recombinant Fusion Proteins (chemistry), Recombinant Fusion Proteins (genetics), Recombinant Fusion Proteins (metabolism), Signal Transduction (drug effects), Transcriptional Activation (drug effects), Transcriptional Activation (genetics), Vascular Endothelial Growth Factor C, Vascular Endothelial Growth Factor Receptor-3.
- MESH :
- chemical , chemistry : Receptor Protein-Tyrosine Kinases, Receptors, Cell Surface, Recombinant Fusion Proteins.
- chemical , genetics : Receptor Protein-Tyrosine Kinases, Receptors, Cell Surface, Recombinant Fusion Proteins.
- chemical , metabolism : Receptor Protein-Tyrosine Kinases, Receptors, Cell Surface, Recombinant Fusion Proteins.
- chemical , pharmacology : Endothelial Growth Factors.
- congenital : Lymphedema.
- drug effects : Phosphorylation, Signal Transduction, Transcriptional Activation.
- genetics : Chromosomes, Human, Pair 5, Genes, Dominant, Lymphedema, Mutation, Missense, Transcriptional Activation.
- metabolism : Lymphedema.
- Alleles, Animals, Cell Line, Enzyme Stability, Female, Half-Life, Humans, Infant, Infant, Newborn, Male, Mice, Models, Molecular, Molecular Sequence Data, Pedigree, Protein Structure, Secondary, Vascular Endothelial Growth Factor C, Vascular Endothelial Growth Factor Receptor-3.
Abstract
Primary lymphoedema is a rare, autosomal dominant disorder that leads to a disabling and disfiguring swelling of the extremities and, when untreated, tends to worsen with time. Here we link primary human lymphoedema to the FLT4 locus, encoding vascular endothelial growth factor receptor-3 (VEGFR-3), in several families. All disease-associated alleles analysed had missense mutations and encoded proteins with an inactive tyrosine kinase, preventing downstream gene activation. Our study establishes that VEGFR-3 is important for normal lymphatic vascular function and that mutations interfering with VEGFR-3 signal transduction are a cause of primary lymphoedema.
DOI: 10.1038/75997
PubMed: 10835628
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pubmed:10835628Le document en format XML
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<term>Animals</term>
<term>Cell Line</term>
<term>Chromosomes, Human, Pair 5 (genetics)</term>
<term>Endothelial Growth Factors (pharmacology)</term>
<term>Enzyme Stability</term>
<term>Female</term>
<term>Genes, Dominant (genetics)</term>
<term>Half-Life</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (metabolism)</term>
<term>Male</term>
<term>Mice</term>
<term>Models, Molecular</term>
<term>Molecular Sequence Data</term>
<term>Mutation, Missense (genetics)</term>
<term>Pedigree</term>
<term>Phosphorylation (drug effects)</term>
<term>Protein Structure, Secondary</term>
<term>Receptor Protein-Tyrosine Kinases (chemistry)</term>
<term>Receptor Protein-Tyrosine Kinases (genetics)</term>
<term>Receptor Protein-Tyrosine Kinases (metabolism)</term>
<term>Receptors, Cell Surface (chemistry)</term>
<term>Receptors, Cell Surface (genetics)</term>
<term>Receptors, Cell Surface (metabolism)</term>
<term>Recombinant Fusion Proteins (chemistry)</term>
<term>Recombinant Fusion Proteins (genetics)</term>
<term>Recombinant Fusion Proteins (metabolism)</term>
<term>Signal Transduction (drug effects)</term>
<term>Transcriptional Activation (drug effects)</term>
<term>Transcriptional Activation (genetics)</term>
<term>Vascular Endothelial Growth Factor C</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Activation de la transcription ()</term>
<term>Activation de la transcription (génétique)</term>
<term>Allèles</term>
<term>Animaux</term>
<term>Chromosomes humains de la paire 5 (génétique)</term>
<term>Données de séquences moléculaires</term>
<term>Facteur de croissance endothéliale vasculaire de type C</term>
<term>Facteurs de croissance endothéliale (pharmacologie)</term>
<term>Femelle</term>
<term>Gènes dominants (génétique)</term>
<term>Humains</term>
<term>Lignée cellulaire</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (génétique)</term>
<term>Lymphoedème (métabolisme)</term>
<term>Modèles moléculaires</term>
<term>Mutation faux-sens (génétique)</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Pedigree</term>
<term>Phosphorylation ()</term>
<term>Protéines de fusion recombinantes ()</term>
<term>Protéines de fusion recombinantes (génétique)</term>
<term>Protéines de fusion recombinantes (métabolisme)</term>
<term>Période</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
<term>Récepteurs de surface cellulaire ()</term>
<term>Récepteurs de surface cellulaire (génétique)</term>
<term>Récepteurs de surface cellulaire (métabolisme)</term>
<term>Récepteurs à activité tyrosine kinase ()</term>
<term>Récepteurs à activité tyrosine kinase (génétique)</term>
<term>Récepteurs à activité tyrosine kinase (métabolisme)</term>
<term>Souris</term>
<term>Stabilité enzymatique</term>
<term>Structure secondaire des protéines</term>
<term>Transduction du signal ()</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>Receptor Protein-Tyrosine Kinases</term>
<term>Receptors, Cell Surface</term>
<term>Recombinant Fusion Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptor Protein-Tyrosine Kinases</term>
<term>Receptors, Cell Surface</term>
<term>Recombinant Fusion Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Receptor Protein-Tyrosine Kinases</term>
<term>Receptors, Cell Surface</term>
<term>Recombinant Fusion Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="pharmacology" xml:lang="en"><term>Endothelial Growth Factors</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="drug effects" xml:lang="en"><term>Phosphorylation</term>
<term>Signal Transduction</term>
<term>Transcriptional Activation</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 5</term>
<term>Genes, Dominant</term>
<term>Lymphedema</term>
<term>Mutation, Missense</term>
<term>Transcriptional Activation</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Activation de la transcription</term>
<term>Chromosomes humains de la paire 5</term>
<term>Gènes dominants</term>
<term>Lymphoedème</term>
<term>Mutation faux-sens</term>
<term>Protéines de fusion recombinantes</term>
<term>Récepteurs de surface cellulaire</term>
<term>Récepteurs à activité tyrosine kinase</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Lymphoedème</term>
<term>Protéines de fusion recombinantes</term>
<term>Récepteurs de surface cellulaire</term>
<term>Récepteurs à activité tyrosine kinase</term>
</keywords>
<keywords scheme="MESH" qualifier="pharmacologie" xml:lang="fr"><term>Facteurs de croissance endothéliale</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Animals</term>
<term>Cell Line</term>
<term>Enzyme Stability</term>
<term>Female</term>
<term>Half-Life</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Mice</term>
<term>Models, Molecular</term>
<term>Molecular Sequence Data</term>
<term>Pedigree</term>
<term>Protein Structure, Secondary</term>
<term>Vascular Endothelial Growth Factor C</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Activation de la transcription</term>
<term>Allèles</term>
<term>Animaux</term>
<term>Données de séquences moléculaires</term>
<term>Facteur de croissance endothéliale vasculaire de type C</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lignée cellulaire</term>
<term>Lymphoedème</term>
<term>Modèles moléculaires</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Pedigree</term>
<term>Phosphorylation</term>
<term>Protéines de fusion recombinantes</term>
<term>Période</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
<term>Récepteurs de surface cellulaire</term>
<term>Récepteurs à activité tyrosine kinase</term>
<term>Souris</term>
<term>Stabilité enzymatique</term>
<term>Structure secondaire des protéines</term>
<term>Transduction du signal</term>
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<front><div type="abstract" xml:lang="en">Primary lymphoedema is a rare, autosomal dominant disorder that leads to a disabling and disfiguring swelling of the extremities and, when untreated, tends to worsen with time. Here we link primary human lymphoedema to the FLT4 locus, encoding vascular endothelial growth factor receptor-3 (VEGFR-3), in several families. All disease-associated alleles analysed had missense mutations and encoded proteins with an inactive tyrosine kinase, preventing downstream gene activation. Our study establishes that VEGFR-3 is important for normal lymphatic vascular function and that mutations interfering with VEGFR-3 signal transduction are a cause of primary lymphoedema.</div>
</front>
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<ArticleTitle>Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.</ArticleTitle>
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<Abstract><AbstractText>Primary lymphoedema is a rare, autosomal dominant disorder that leads to a disabling and disfiguring swelling of the extremities and, when untreated, tends to worsen with time. Here we link primary human lymphoedema to the FLT4 locus, encoding vascular endothelial growth factor receptor-3 (VEGFR-3), in several families. All disease-associated alleles analysed had missense mutations and encoded proteins with an inactive tyrosine kinase, preventing downstream gene activation. Our study establishes that VEGFR-3 is important for normal lymphatic vascular function and that mutations interfering with VEGFR-3 signal transduction are a cause of primary lymphoedema.</AbstractText>
</Abstract>
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<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
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