Blecher S R
J Invest Dermatol. 1986 Dec;87(6):720-2. doi: 10.1111/1523-1747.ep12456718.
I have suggested that the X-linked gene Tabby (Ta) and its autosomal mimics in the mouse may be homologous with the genes for sex-linked anhidrotic (hypohidrotic) ectodermal dysplasia (Christ-Siemens-Touraine syndrome, CST) and its apparent autosomal mimics in the human. In the present study, I examined whether anhidrosis, a cardinal feature of CST, is present in the putative mouse sex-linked model, Tabby. The results demonstrate that whereas normal mice perspire on the volar and plantar surfaces of their paws, hemizygous Ta/Y male mice show anhidrosis and absence of sweat glands, as do human hemizygous male sufferers of CST. This result is strongly supportive of the hypothesis that Ta is homologous to the gene for CST.
我曾提出,小鼠中X连锁基因“虎斑”(Ta)及其常染色体模拟基因可能与人类性连锁无汗(少汗)性外胚层发育不良(克里斯 - 西门子 - 图赖讷综合征,CST)及其明显的常染色体模拟基因同源。在本研究中,我检测了CST的主要特征——无汗症是否存在于假定的小鼠性连锁模型“虎斑”中。结果表明,正常小鼠的爪掌面会出汗,而半合子Ta/Y雄性小鼠表现出无汗症且没有汗腺,人类CST半合子男性患者也是如此。这一结果有力地支持了Ta与CST基因同源的假说。