VEGFR3 gene structure, regulatory region, and sequence polymorphisms.
Identifieur interne : 009949 ( Main/Curation ); précédent : 009948; suivant : 009950VEGFR3 gene structure, regulatory region, and sequence polymorphisms.
Auteurs : K. Iljin [Finlande] ; M J Karkkainen ; E C Lawrence ; M A Kimak ; M. Uutela ; J. Taipale ; K. Pajusola ; L. Alhonen ; M. Halmekytö ; D N Finegold ; R E Ferrell ; Kari Alitalo [Finlande]Source :
- FASEB journal : official publication of the Federation of American Societies for Experimental Biology [ 0892-6638 ] ; 2001.
Descripteurs français
- KwdFr :
- Animaux, Cellules 3T3, Clonage moléculaire, Données de séquences moléculaires, Embryon de mammifère, Endothélium, Exons, Humains, Introns, Polymorphisme génétique, Récepteur facteur croissance (génétique), Récepteur-3 au facteur croissance endothéliale vasculaire, Récepteurs à activité tyrosine kinase (génétique), Régions promotrices (génétique) (génétique), Similitude de séquences d'acides nucléiques, Souris, Souris transgéniques, Séquence nucléotidique, Variation génétique.
- MESH :
- génétique : Récepteur facteur croissance, Récepteurs à activité tyrosine kinase, Régions promotrices (génétique).
- Animaux, Cellules 3T3, Clonage moléculaire, Données de séquences moléculaires, Embryon de mammifère, Endothélium, Exons, Humains, Introns, Polymorphisme génétique, Récepteur-3 au facteur croissance endothéliale vasculaire, Similitude de séquences d'acides nucléiques, Souris, Souris transgéniques, Séquence nucléotidique, Variation génétique.
English descriptors
- KwdEn :
- 3T3 Cells, Animals, Base Sequence, Cloning, Molecular, Embryo, Mammalian, Endothelium, Exons, Genetic Variation, Humans, Introns, Mice, Mice, Transgenic, Molecular Sequence Data, Polymorphism, Genetic, Promoter Regions, Genetic (genetics), Receptor Protein-Tyrosine Kinases (genetics), Receptors, Growth Factor (genetics), Sequence Homology, Nucleic Acid, Vascular Endothelial Growth Factor Receptor-3.
- MESH :
- chemical , genetics : Receptor Protein-Tyrosine Kinases, Receptors, Growth Factor.
- genetics : Promoter Regions, Genetic.
- 3T3 Cells, Animals, Base Sequence, Cloning, Molecular, Embryo, Mammalian, Endothelium, Exons, Genetic Variation, Humans, Introns, Mice, Mice, Transgenic, Molecular Sequence Data, Polymorphism, Genetic, Sequence Homology, Nucleic Acid, Vascular Endothelial Growth Factor Receptor-3.
Abstract
Vascular endothelial growth factor receptor 3 (VEGFR-3) is required for cardiovascular development during embryogenesis. In adults, this receptor is expressed in lymphatic endothelial cells, and mutant VEGFR3 alleles have been implicated in human hereditary lymphedema. To better understand the basis of its specific endothelial lineage-restricted expression, we have characterized the VEGFR3 gene and its regulatory 5' flanking region. The human gene contains 31 exons, of which exons 30a and 30b are alternatively spliced. The VEGFR3 proximal promoter is TATA-less and contains stretches of sequences homologous with the mouse Vegfr3 promoter region. In transfection experiments of cultured cells, the Vegfr3 promoter was shown to control endothelial cell-specific transcription of downstream reporter genes. This result was further confirmed in vivo; in a subset of transgenic mouse embryos, a 1.6 kb Vegfr3 promoter fragment directed weak lymphatic endothelial expression of the LacZ marker gene. This suggests that endothelial cell-specific elements occur in the proximal promoter, although further enhancer elements are probably located elsewhere. The sequence, organization, and variation in the VEGFR3 gene and its regulatory region provide important tools for the molecular genetic analysis of the lymphatic system and its disorders.
PubMed: 11292664
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pubmed:11292664Le document en format XML
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Iljin</name><affiliation wicri:level="4"><nlm:affiliation>Molecular/Cancer Biology Laboratory, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Molecular/Cancer Biology Laboratory, Haartman Institute, University of Helsinki, 00014 Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Karkkainen, M J" sort="Karkkainen, M J" uniqKey="Karkkainen M" first="M J" last="Karkkainen">M J Karkkainen</name></author><author><name sortKey="Lawrence, E C" sort="Lawrence, E C" uniqKey="Lawrence E" first="E C" last="Lawrence">E C Lawrence</name></author><author><name sortKey="Kimak, M A" sort="Kimak, M A" uniqKey="Kimak M" first="M A" last="Kimak">M A Kimak</name></author><author><name sortKey="Uutela, M" sort="Uutela, M" uniqKey="Uutela M" first="M" last="Uutela">M. 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In adults, this receptor is expressed in lymphatic endothelial cells, and mutant VEGFR3 alleles have been implicated in human hereditary lymphedema. To better understand the basis of its specific endothelial lineage-restricted expression, we have characterized the VEGFR3 gene and its regulatory 5' flanking region. The human gene contains 31 exons, of which exons 30a and 30b are alternatively spliced. The VEGFR3 proximal promoter is TATA-less and contains stretches of sequences homologous with the mouse Vegfr3 promoter region. In transfection experiments of cultured cells, the Vegfr3 promoter was shown to control endothelial cell-specific transcription of downstream reporter genes. This result was further confirmed in vivo; in a subset of transgenic mouse embryos, a 1.6 kb Vegfr3 promoter fragment directed weak lymphatic endothelial expression of the LacZ marker gene. This suggests that endothelial cell-specific elements occur in the proximal promoter, although further enhancer elements are probably located elsewhere. The sequence, organization, and variation in the VEGFR3 gene and its regulatory region provide important tools for the molecular genetic analysis of the lymphatic system and its disorders.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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