Kobayashi T, Hirayama Y, Kobayashi E, Kubo Y, Hino O
Department of Experimental Pathology, Cancer Institute, Tokyo, Japan.
Nat Genet. 1995 Jan;9(1):70-4. doi: 10.1038/ng0195-70.
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 occurrence of renal tumours. The Eker rat may therefore provide insights into species-specific differences in tumourigenesis and/or phenotype-specific mutations.
埃克大鼠遗传性肾癌（RC）是实验动物中孟德尔显性遗传易患特定癌症的一个典型例子。我们之前在大鼠10号染色体长臂和人类16号染色体短臂13.3区建立了一个新的保守连锁群，并表明埃克突变与结节性硬化症（Tsc2）基因紧密连锁。我们现在描述了埃克大鼠中由于插入一个约5千碱基的DNA片段导致编码Tsc2的基因发生种系突变，从而使突变等位基因的RNA表达异常。人类结节性硬化症的表型与埃克大鼠不同，除了都会发生肾肿瘤。因此，埃克大鼠可能有助于深入了解肿瘤发生过程中的物种特异性差异和/或表型特异性突变。
