A GERMLINE INSERTION IN THE TUBEROUS SCLEROSIS (TSC2) GENE GIVES RISE TO THE EKER RAT MODEL OF DOMINANTLY INHERITED CANCER
A GERMLINE INSERTION IN THE TUBEROUS SCLEROSIS (TSC2) GENE GIVES RISE TO THE EKER RAT MODEL OF DOMINANTLY INHERITED CANCER
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DOI：
10.1038/ng0195-70
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发表时间：
1995-01-01
期刊：
影响因子：
30.8
通讯作者：
HINO, O
中科院分区：
文献类型：
--
作者：
KOBAYASHI, T;HIRAYAMA, Y;HINO, O
Eker 大鼠遗传性肾癌 (RC) 是实验动物中孟德尔显性易患特定癌症的一个很好的例子。我们之前在大鼠染色体10q和人类染色体16p13.3上建立了一个新的保守连锁群，并表明Eker突变与结节性硬化症（Tsc2）基因紧密连锁。我们现在描述了编码 Tsc2 的基因中的种系突变，该突变是由于在 Eker 大鼠中插入大约 5 kilobase DNA 片段引起的，导致突变等位基因的异常 RNA 表达。除了肾肿瘤的发生外，人类结节性硬化症的表型与 Eker 大鼠的表型不同。因此，Eker 大鼠可能提供对肿瘤发生和/或表型特异性突变的物种特异性差异的见解。
The Eker rat hereditary renal carcinoma (RC) is an excellent example of a mendelian dominant predisposition to a specific cancer in an experimental animal. We have previously established a new conserved linkage group on rat chromosome 10q and human chromosome 16p13.3, and shown that the Eker mutation is tightly linked to the tuberous sclerosis (Tsc2) gene. We now describe a germline mutation in the gene encoding Tsc2 caused by the insertion of an approximately 5 kilobase DNA fragment in the Eker rat, resulting in aberrant RNA expression from the mutant allele. The phenotype of tuberous sclerosis in humans differs from that of the Eker rat, except for the occurence of renal tumours. The Eker rat may therefore provide insights into species-specific differences in tumourigenesis and/or phenotype-specific mutations.