Salido E C, Yen P H, Mohandas T K, Shapiro L J
Howard Hughes Medical Institute, UCLA School of Medicine, Harbor-UCLA Medical Center, Torrance 90509.
Nat Genet. 1992 Nov;2(3):196-9. doi: 10.1038/ng1192-196.
Mammalian X-chromosome inactivation is thought to be controlled by the X inactivation centre (XIC, X-controlling element -Xce-in mice). A human gene, XIST and its mouse counterpart, Xist, which map to the XIC/Xce, are expressed exclusively from inactive X chromosomes, suggesting their involvement in the process of X-inactivation. We now report the presence of Xist/XIST transcripts in newborn and adult mouse testes, and in human testicular tissue with normal spermatogenesis, but not in the testes of patients who lack germ cells. Our results indicate that while the X chromosome in males is active in somatic cells, it undergoes inactivation during spermatogenesis.
哺乳动物的X染色体失活被认为受X失活中心（在小鼠中为XIC，即X控制元件 - Xce）控制。一个定位于XIC/Xce的人类基因XIST及其小鼠对应基因Xist，仅从不活跃的X染色体上表达，这表明它们参与了X染色体失活过程。我们现在报告，在新生和成年小鼠睾丸以及具有正常精子发生的人类睾丸组织中存在Xist/XIST转录本，但在缺乏生殖细胞的患者睾丸中则没有。我们的结果表明，虽然雄性的X染色体在体细胞中是活跃的，但在精子发生过程中会发生失活。
