Lee C H, Taketo T
Department of Biology and Urology Research Laboratory, Department of Surgery, McGill University, Montreal, Quebec, Canada.
Genesis. 2001 May;30(1):7-11. doi: 10.1002/gene.1026.
Sry, a single-copy gene on the Y-chromosome, triggers the fetal gonad to begin testis differentiation in mammals. On the other hand, mutation or absence of Sry results in ovary differentiation and the female phenotype. However, cases of XY sex reversal in the presence of wild-type Sry exist in mice and man. One such example is the B6-Y(TIR) mouse, whose autosomes and X-chromosome are from the C57BL/6J mouse (an inbred strain of Mus musculus molossinus), whereas the Y-chromosome is from a Mus musculus domesticus mouse originating in Tirano, Italy. The B6-Y(TIR) mouse never develops normal testes and instead develops ovaries or ovotestes in fetal life. It has been suggested that low levels of Sry transcription may account for the aberrant testis differentiation in the B6-Y(TIR) mouse. In this study, however, we observed relatively low levels of Sry transcripts not only in B6-Y(TIR) but also in B6 mice, which develop normal testes. We conclude that low dosage of Sry transcripts cannot be the sole cause of sex reversal in the B6-Y(TIR) gonad.
Sry是Y染色体上的一个单拷贝基因,它能促使哺乳动物胎儿的性腺开始睾丸分化。另一方面,Sry的突变或缺失会导致卵巢分化和雌性表型。然而,在小鼠和人类中存在野生型Sry却出现XY性反转的情况。一个这样的例子是B6-Y(TIR)小鼠,其常染色体和X染色体来自C57BL/6J小鼠(小家鼠日本亚种的一个近交系),而Y染色体来自一只原产于意大利蒂拉诺的小家鼠。B6-Y(TIR)小鼠从未发育出正常的睾丸,而是在胎儿期发育出卵巢或卵睾。有人提出,Sry转录水平低可能是B6-Y(TIR)小鼠睾丸分化异常的原因。然而,在本研究中,我们观察到不仅B6-Y(TIR)小鼠,而且发育出正常睾丸的B6小鼠中Sry转录本水平都相对较低。我们得出结论,Sry转录本低剂量不可能是B6-Y(TIR)性腺性反转的唯一原因。