title: Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
abstract: 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.
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Micale
authors.forename: Carmela
authors.initials: C
authors.lastname: Fusco
authors.forename: Bartolomeo
authors.initials: B
authors.lastname: Augello
authors.forename: Luisa M R
authors.initials: LM
authors.lastname: Napolitano
authors.forename: Emmanouil T
authors.initials: ET
authors.lastname: Dermitzakis
authors.forename: Germana
authors.initials: G
authors.lastname: Meroni
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Merla
authors.forename: Alexandre
authors.initials: A
authors.lastname: Reymond
mesh_terms: D020816:Amino Acid Motifs / Q000235:genetics; D000818:Animals; D019556:COS Cells; D045744:Cell Line, Tumor; D002522:Chlorocebus aethiops; D002897:Chromosomes, Human, Pair 7 / Q000201:enzymology / Q000235:genetics; D006367:HeLa Cells; D006801:Humans; D051379:Mice; D010641:Phenotype; D046988:Proteasome Endopeptidase Complex / Q000502:physiology; D015398:Signal Transduction / Q000235:genetics; D026801:Synteny / Q000235:genetics; D025801:Ubiquitin / Q000502:physiology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D018980:Williams Syndrome / Q000201:enzymology* / Q000235:genetics*
chemical_list: D025801:Ubiquitin; D044767:Ubiquitin-Protein Ligases; D046988:Proteasome Endopeptidase Complex