Meyer W J, Migeon B R, Migeon C J
Proc Natl Acad Sci U S A. 1975 Apr;72(4):1469-72. doi: 10.1073/pnas.72.4.1469.
We have studied androgen binding characteristics of cells for androgen insensitivity from an obligate heterozygote, who is the mother of three male pseudohermaphrodites with dihydrotestosterone (17beta-hydroxy-5alpha-androstan-3-one) receptor deficiency. Specific dihydrotestosterone binding by skin fibroblasts from her wrist and pubis is within the normal range and indicates that androgen insensitivity is X-linked in man and is therefore homologous to the tfm locus in the mouse. A significant population of clones from the heterozygote has deficient receptor activity, and this finding is compatible with inactivation of one X-linked allele at this locus. Our results indicate the presence of a gene on the human X chromosome that is essential for normal male sexual differentiation and provide further evidence for homology between X chromosomes of all mammals.
我们研究了一位专性杂合子细胞的雄激素结合特性，该杂合子是三名患有二氢睾酮（17β-羟基-5α-雄甾烷-3-酮）受体缺陷的男性假两性畸形患者的母亲。来自她手腕和耻骨的皮肤成纤维细胞对二氢睾酮的特异性结合在正常范围内，这表明雄激素不敏感在人类中是X连锁的，因此与小鼠的tfm位点同源。来自杂合子的大量克隆具有缺陷的受体活性，这一发现与该位点一个X连锁等位基因的失活相一致。我们的结果表明，人类X染色体上存在一个对正常男性性分化至关重要的基因，并为所有哺乳动物X染色体之间的同源性提供了进一步的证据。
