Politch J A, Fox T O, Houben P, Bullock L, Lovell D
Department of Neuroscience, Children's Hospital and Neuropathology, Harvard Medical School, Boston, Massachusetts.
Biochem Genet. 1988 Apr;26(3-4):213-21. doi: 10.1007/BF00561461.
TfmLac, a new occurrence of the X-linked mutation testicular feminization, has been isolated in a stock of mice and mapped to the same region as the original TfmH mutation. We compared these two mutants to determine if there are differences in their putative residual androgen receptors or androgen responsiveness. Such differences have been reported for Tfm mutations in humans. We found no evidence for induction of ornithine decarboxylase (ODC) activity in TfmLac despite androgen treatment for up to 3 weeks. This is in agreement with findings for TfmH. Both of these mutants expressed small amounts of androgen binding activity which shared some properties with the normal androgen receptors in mouse kidney. The binding was distinguishable between the two mutants, however, as determined by hormone saturation experiments utilizing DNA-cellulose chromatography. These findings confirm the independence of the two mutations and are consistent with their being allelic: both result in severe deficits of androgen binding and response.
TfmLac是X连锁突变睾丸女性化的一种新出现情况，已在一群小鼠中分离出来，并定位到与原始TfmH突变相同的区域。我们比较了这两个突变体，以确定它们假定的残余雄激素受体或雄激素反应性是否存在差异。人类的Tfm突变已有此类差异的报道。我们发现，尽管雄激素处理长达3周，但TfmLac中没有诱导鸟氨酸脱羧酶（ODC）活性的证据。这与TfmH的研究结果一致。这两个突变体都表达少量雄激素结合活性，这些活性与小鼠肾脏中的正常雄激素受体具有一些共同特性。然而，通过利用DNA-纤维素色谱的激素饱和实验确定，两个突变体之间的结合是可区分的。这些发现证实了这两个突变的独立性，并与其等位基因性质一致：两者都导致雄激素结合和反应的严重缺陷。
