Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
Identifieur interne : 004A59 ( PubMed/Curation ); précédent : 004A58; suivant : 004A60Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
Auteurs : A. Irrthum [Belgique] ; M J Karkkainen ; K. Devriendt ; K. Alitalo ; M. VikkulaSource :
- American journal of human genetics [ 0002-9297 ] ; 2000.
Descripteurs français
- KwdFr :
- Alignement de séquences, Chromosomes humains de la paire 5 (génétique), Dimérisation, Domaine catalytique, Données de séquences moléculaires, Femelle, Gènes dominants (génétique), Humains, Lignée cellulaire, Lod score, Lymphoedème (), Lymphoedème (génétique), Modèles moléculaires, Mutation (génétique), Mâle, Pedigree, Phosphorylation, Polymorphisme génétique (génétique), Pénétrance, 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), Sites de fixation, Substitution d'acide aminé (génétique), Séquence d'acides aminés, Séquence nucléotidique, Transfection.
- MESH :
- génétique : Chromosomes humains de la paire 5, Gènes dominants, Lymphoedème, Mutation, Polymorphisme génétique, Récepteurs de surface cellulaire, Récepteurs à activité tyrosine kinase, Substitution d'acide aminé.
- métabolisme : Récepteurs de surface cellulaire, Récepteurs à activité tyrosine kinase.
- Alignement de séquences, Dimérisation, Domaine catalytique, Données de séquences moléculaires, Femelle, Humains, Lignée cellulaire, Lod score, Lymphoedème, Modèles moléculaires, Mâle, Pedigree, Phosphorylation, Pénétrance, Récepteur-3 au facteur croissance endothéliale vasculaire, Récepteurs de surface cellulaire, Récepteurs à activité tyrosine kinase, Sites de fixation, Séquence d'acides aminés, Séquence nucléotidique, Transfection.
English descriptors
- KwdEn :
- Amino Acid Sequence, Amino Acid Substitution (genetics), Base Sequence, Binding Sites, Catalytic Domain, Cell Line, Chromosomes, Human, Pair 5 (genetics), Dimerization, Female, Genes, Dominant (genetics), Humans, Lod Score, Lymphedema (congenital), Lymphedema (genetics), Male, Models, Molecular, Molecular Sequence Data, Mutation (genetics), Pedigree, Penetrance, Phosphorylation, Polymorphism, Genetic (genetics), 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), Sequence Alignment, Transfection, Vascular Endothelial Growth Factor Receptor-3.
- MESH :
- chemical , chemistry : Receptor Protein-Tyrosine Kinases, Receptors, Cell Surface.
- congenital : Lymphedema.
- genetics : Amino Acid Substitution, Chromosomes, Human, Pair 5, Genes, Dominant, Lymphedema, Mutation, Polymorphism, Genetic, Receptor Protein-Tyrosine Kinases, Receptors, Cell Surface.
- chemical , metabolism : Receptor Protein-Tyrosine Kinases, Receptors, Cell Surface.
- Amino Acid Sequence, Base Sequence, Binding Sites, Catalytic Domain, Cell Line, Dimerization, Female, Humans, Lod Score, Male, Models, Molecular, Molecular Sequence Data, Pedigree, Penetrance, Phosphorylation, Sequence Alignment, Transfection, Vascular Endothelial Growth Factor Receptor-3.
Abstract
Hereditary lymphedema is a chronic swelling of limbs due to dysfunction of lymphatic vessels. An autosomal dominant, congenital form of the disease, also known as "Milroy disease," has been mapped to the telomeric part of chromosome 5q, in the region 5q34-q35. This region contains a good candidate gene for the disease, VEGFR3 (FLT4), that encodes a receptor tyrosine kinase specific for lymphatic vessels. To clarify the role of VEGFR3 in the etiology of the disease, we have analyzed a family with hereditary lymphedema. We show linkage of the disease with markers in 5q34-q35, including a VEGFR3 intragenic polymorphism, and we describe an A-->G transition that cosegregates with the disease, corresponding to a histidine-to-arginine substitution in the catalytic loop of the protein. In addition, we show, by in vitro expression, that this mutation inhibits the autophosphorylation of the receptor. Thus, defective VEGFR3 signaling seems to be the cause of congenital hereditary lymphedema linked to 5q34-q35.
DOI: 10.1086/303019
PubMed: 10856194
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pubmed:10856194Le document en format XML
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<term>Données de séquences moléculaires</term>
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<term>Models, Molecular</term>
<term>Molecular Sequence Data</term>
<term>Pedigree</term>
<term>Penetrance</term>
<term>Phosphorylation</term>
<term>Sequence Alignment</term>
<term>Transfection</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
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<term>Récepteurs à activité tyrosine kinase</term>
<term>Sites de fixation</term>
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<front><div type="abstract" xml:lang="en">Hereditary lymphedema is a chronic swelling of limbs due to dysfunction of lymphatic vessels. An autosomal dominant, congenital form of the disease, also known as "Milroy disease," has been mapped to the telomeric part of chromosome 5q, in the region 5q34-q35. This region contains a good candidate gene for the disease, VEGFR3 (FLT4), that encodes a receptor tyrosine kinase specific for lymphatic vessels. To clarify the role of VEGFR3 in the etiology of the disease, we have analyzed a family with hereditary lymphedema. We show linkage of the disease with markers in 5q34-q35, including a VEGFR3 intragenic polymorphism, and we describe an A-->G transition that cosegregates with the disease, corresponding to a histidine-to-arginine substitution in the catalytic loop of the protein. In addition, we show, by in vitro expression, that this mutation inhibits the autophosphorylation of the receptor. Thus, defective VEGFR3 signaling seems to be the cause of congenital hereditary lymphedema linked to 5q34-q35.</div>
</front>
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<Abstract><AbstractText>Hereditary lymphedema is a chronic swelling of limbs due to dysfunction of lymphatic vessels. An autosomal dominant, congenital form of the disease, also known as "Milroy disease," has been mapped to the telomeric part of chromosome 5q, in the region 5q34-q35. This region contains a good candidate gene for the disease, VEGFR3 (FLT4), that encodes a receptor tyrosine kinase specific for lymphatic vessels. To clarify the role of VEGFR3 in the etiology of the disease, we have analyzed a family with hereditary lymphedema. We show linkage of the disease with markers in 5q34-q35, including a VEGFR3 intragenic polymorphism, and we describe an A-->G transition that cosegregates with the disease, corresponding to a histidine-to-arginine substitution in the catalytic loop of the protein. In addition, we show, by in vitro expression, that this mutation inhibits the autophosphorylation of the receptor. Thus, defective VEGFR3 signaling seems to be the cause of congenital hereditary lymphedema linked to 5q34-q35.</AbstractText>
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<OtherID Source="NLM">PMC1287178</OtherID>
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<Month>04</Month>
<Day>20</Day>
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<PubMedPubDate PubStatus="accepted"><Year>2000</Year>
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<PubMedPubDate PubStatus="entrez"><Year>2000</Year>
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