Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.

Détails

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Etat: Serval
Version: de l'auteur
ID Serval
serval:BIB_C1B799B255F6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
Périodique
European Journal of Human Genetics
Auteur(s)
Micale L., Fusco C., Augello B., Napolitano L.M., Dermitzakis E.T., Meroni G., Merla G., Reymond A.
ISSN
1018-4813
Statut éditorial
Publié
Date de publication
2008
Peer-reviewed
Oui
Volume
16
Numéro
9
Pages
1038-1049
Langue
anglais
Résumé
Williams-Beuren syndrome (WBS) is a neurodevelopmental and multisystemic disease that results from hemizygosity of approximately 25 genes mapping to chromosomal region 7q11.23. We report here the preliminary description of eight novel genes mapping within the WBS critical region and/or its syntenic mouse region. Three of these genes, TRIM50, TRIM73 and TRIM74, belong to the TRIpartite motif gene family, members of which were shown to be associated to several human genetic diseases. We describe the preliminary functional characterization of these genes and show that Trim50 encodes an E3 ubiquitin ligase, opening the interesting hypothesis that the ubiquitin-mediated proteasome pathway might be involved in the WBS phenotype.
Mots-clé
Amino Acid Motifs/genetics, Animals, COS Cells, Cell Line, Tumor, Cercopithecus aethiops, Chromosomes, Human, Pair 7/enzymology, Chromosomes, Human, Pair 7/genetics, Hela Cells, Humans, Mice, Phenotype, Proteasome Endopeptidase Complex/physiology, Signal Transduction/genetics, Synteny/genetics, Ubiquitin/physiology, Ubiquitin-Protein Ligases/genetics, Williams Syndrome/enzymology, Williams Syndrome/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
18/06/2009 13:34
Dernière modification de la notice
09/05/2019 0:46
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