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Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

Micale, Lucia
Fusco, Carmela
Augello, Bartolomeo
Napolitano, Luisa M. R.
Meroni, Germana
Published in European journal of human genetics. 2008, vol. 16, no. 9, p. 1038-1049
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.
Keywords Amino Acid Motifs/geneticsAnimalsCOS CellsCell Line, TumorCercopithecus aethiopsChromosomes, Human, Pair 7/enzymology/geneticsHeLa CellsHumansMicePhenotypeProteasome Endopeptidase Complex/physiologySignal Transduction/geneticsSynteny/geneticsUbiquitin/physiologyUbiquitin-Protein Ligases/*geneticsWilliams Syndrome/*enzymology/*genetics
PMID: 18398435
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Research group Population Genomics and Genetics of Complex Traits (892)
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MICALE, Lucia et al. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. In: European journal of human genetics, 2008, vol. 16, n° 9, p. 1038-1049. doi: 10.1038/ejhg.2008.68 https://archive-ouverte.unige.ch/unige:19091

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Deposited on : 2012-03-27

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