Mitchell M, Simon D, Affara N, Ferguson-Smith M, Avner P, Bishop C
Unité d'Immunogénétique Humaine, Institut Pasteur, Paris, France.
Genetics. 1989 Apr;121(4):803-9. doi: 10.1093/genetics/121.4.803.
Recently a candidate gene for the primary testis-determining factor (TDF) encoding a zinc finger protein (ZFY) has been cloned from the human Y chromosome. A highly homologous X-linked copy has also been identified. Using this human sequence it is possible to identify two Y loci, an X and an autosomal locus in the mouse (Zfy-1, Zfy-2, Zfx and Zfa, respectively). Suprisingly ZFY is more homologous to the mouse X and autosomal sequences than it is to either of the Y-linked loci. Both Zfy-1 and Zfy-2 are present in the Sxr region of the Y but Zfy-2 is absent in the Sxr deletion variant Sxrb (or Sxr") suggesting it is not necessary for male determination. Extensive backcross analyses map Zfa to mouse chromosome 10 and Zfx to a 5-cM interval between anonymous X probe MDXS120 and the tabby locus (Ta). We also show that the mouse androgen receptor locus (m-AR) believed to underlie the testicular feminization mutation (Tfm) shows complete linkage to Zfx. Comparative mapping indicates that in man these genes lie in separate conserved DNA segments.
最近，从人类Y染色体上克隆出了一个编码锌指蛋白（ZFY）的主要睾丸决定因子（TDF）的候选基因。还鉴定出了一个高度同源的X连锁拷贝。利用这一人类序列，有可能在小鼠中鉴定出两个Y位点、一个X位点和一个常染色体位点（分别为Zfy-1、Zfy-2、Zfx和Zfa）。令人惊讶的是，ZFY与小鼠的X和常染色体序列的同源性比与任何一个Y连锁位点的同源性都更高。Zfy-1和Zfy-2都存在于Y染色体的Sxr区域，但Zfy-2在Sxr缺失变体Sxrb（或Sxr"）中不存在，这表明它对于雄性决定并非必需。广泛的回交分析将Zfa定位到小鼠的10号染色体上，将Zfx定位到匿名X探针MDXS120和虎斑位点（Ta）之间5厘摩的区间内。我们还表明，被认为是睾丸女性化突变（Tfm）基础的小鼠雄激素受体位点（m-AR）与Zfx完全连锁。比较图谱分析表明，在人类中这些基因位于不同的保守DNA片段中。
