An X chromosome gene, WTX, is commonly inactivated in Wilms tumor
An X chromosome gene, WTX, is commonly inactivated in Wilms tumor
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DOI：
10.1126/science.1137509
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发表时间：
2007-02-02
期刊：
影响因子：
56.9
通讯作者：
Haber, Daniel A.
中科院分区：
文献类型：
--
作者：
Rivera, Miguel N.;Kim, Woo Jae;Haber, Daniel A.
肾母细胞瘤是一种与WT1肿瘤抑制基因失活有关的儿童肾癌，5%至10%的病例与WT1肿瘤抑制基因失活有关。使用高分辨率屏幕的DNA拷贝数的改变，在肾母细胞瘤，我们确定了体细胞缺失针对以前未知的基因在X染色体上。这种基因，我们称之为WTX，在大约三分之一的Wilms肿瘤（51个肿瘤中的15个）中失活。WTX突变的肿瘤缺乏WT1突变，并且这两个基因在正常肾前体中共享有限的时间和空间表达模式。与常染色体肿瘤抑制基因的双等位基因失活相反，WTX通过靶向男性肿瘤中的单个X染色体和女性肿瘤中的活性X染色体的单等位基因“单一命中”事件失活。
Wilms tumor is a pediatric kidney cancer associated with inactivation of the WT1 tumor-suppressor gene in 5 to 10% of cases. Using a high-resolution screen for DNA copy-number alterations in Wilms tumor, we identified somatic deletions targeting a previously uncharacterized gene on the X chromosome. This gene, which we call WTX, is inactivated in approximately one-third of Wilms tumors (15 of 51 tumors). Tumors with mutations in WTX lack WT1 mutations, and both genes share a restricted temporal and spatial expression pattern in normal renal precursors. In contrast to biallelic inactivation of autosomal tumor-suppressor genes, WTX is inactivated by a monoallelic "single-hit" event targeting the single X chromosome in tumors from males and the active X chromosome in tumors from females.