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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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></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">10856194</PMID><DateCreated><Year>2000</Year><Month>08</Month><Day>21</Day></DateCreated><DateCompleted><Year>2000</Year><Month>08</Month><Day>21</Day></DateCompleted><DateRevised><Year>2014</Year><Month>06</Month><Day>15</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">0002-9297</ISSN><JournalIssue CitedMedium="Print"><Volume>67</Volume><Issue>2</Issue><PubDate><Year>2000</Year><Month>Aug</Month></PubDate></JournalIssue><Title>American journal of human genetics</Title><ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.</ArticleTitle><Pagination><MedlinePgn>295-301</MedlinePgn></Pagination><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></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Irrthum</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, B-1200 Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Karkkainen</LastName><ForeName>M J</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>Devriendt</LastName><ForeName>K</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Alitalo</LastName><ForeName>K</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Vikkula</LastName><ForeName>M</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><DataBankList 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UI="D040321">Vascular Endothelial Growth Factor Receptor-3</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 1998 Dec;7(13):2073-8</RefSource><PMID Version="1">9817924</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cancer Res. 1998 Apr 15;58(8):1599-604</RefSource><PMID Version="1">9563467</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 1999 Feb;64(2):547-55</RefSource><PMID Version="1">9973292</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Structure. 1999 Mar 15;7(3):319-30</RefSource><PMID Version="1">10368301</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 1999 Jul;65(1):125-33</RefSource><PMID Version="1">10364524</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 1999 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Version="1">9926914</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000595" MajorTopicYN="N">Amino Acid Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019943" MajorTopicYN="N">Amino Acid Substitution</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001665" MajorTopicYN="N">Binding Sites</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020134" MajorTopicYN="N">Catalytic Domain</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002460" MajorTopicYN="N">Cell Line</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002895" MajorTopicYN="N">Chromosomes, Human, Pair 5</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D019281" MajorTopicYN="N">Dimerization</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005799" MajorTopicYN="N">Genes, Dominant</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008126" MajorTopicYN="N">Lod Score</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000151" MajorTopicYN="Y">congenital</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008958" MajorTopicYN="N">Models, Molecular</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D019683" MajorTopicYN="N">Penetrance</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010766" MajorTopicYN="N">Phosphorylation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011110" MajorTopicYN="N">Polymorphism, Genetic</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020794" MajorTopicYN="N">Receptor Protein-Tyrosine Kinases</DescriptorName><QualifierName UI="Q000737" 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