GERMLINE INTRONIC AND EXONIC MUTATIONS IN THE WILMS-TUMOR GENE (WT1) AFFECTING UROGENITAL DEVELOPMENT
GERMLINE INTRONIC AND EXONIC MUTATIONS IN THE WILMS-TUMOR GENE (WT1) AFFECTING UROGENITAL DEVELOPMENT
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DOI：
10.1038/ng0592-144
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发表时间：
1992-05-01
期刊：
影响因子：
30.8
通讯作者：
PELLETIER, J
中科院分区：
文献类型：
--
作者：
BRUENING, W;BARDEESY, N;PELLETIER, J
Denys-Drash综合征是一种罕见的人类发育障碍，影响泌尿生殖系统，导致肾衰竭，双性障碍和肾母细胞瘤。在这份报告中，四个人与这种综合征进行了描述生殖系点突变的维尔姆斯肿瘤抑制基因，WT 1。其中三个突变位于WT 1的锌指结构域。第四个发生在内含子9，防止剪接在一个可选的剪接供体位点的外显子9时，在体外测定。这些结果为WT 1亚型在泌尿生殖系统发育中的不同功能作用提供了遗传学证据。
Denys-Drash syndrome is a rare human developmental disorder affecting the urogenital system and leading to renal failure, intersex disorders and Wilms' tumour. In this report, four individuals with this syndrome are described carrying germline point mutations in the Wilms' tumour suppressor gene, WT1. Three of these mutations were in the zinc finger domains of WT1. The fourth occurred within intron 9, preventing splicing at one of the alternatively chosen splice donor sites of exon 9 when assayed in vitro. These results provide genetic evidence for distinct functional roles of the WT1 isoforms in urogenital development.