威廉姆斯-贝伦综合征TRIM50编码一种E3泛素连接酶。
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
作者信息
Micale Lucia, Fusco Carmela, Augello Bartolomeo, Napolitano Luisa M R, Dermitzakis Emmanouil T, Meroni Germana, Merla Giuseppe, Reymond Alexandre
机构信息
Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
出版信息
Eur J Hum Genet. 2008 Sep;16(9):1038-49. doi: 10.1038/ejhg.2008.68. Epub 2008 Apr 9.
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.
摘要
威廉姆斯-博伦综合征（WBS）是一种神经发育和多系统疾病，由定位于染色体区域7q11.23的大约25个基因的半合子状态导致。我们在此报告定位于WBS关键区域和/或其同线小鼠区域内的8个新基因的初步描述。其中3个基因，TRIM50、TRIM73和TRIM74，属于三联基序基因家族，其成员已被证明与多种人类遗传疾病相关。我们描述了这些基因的初步功能特征，并表明Trim50编码一种E3泛素连接酶，从而提出了一个有趣的假说，即泛素介导的蛋白酶体途径可能参与了WBS的表型。
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