Eicher E M
Jackson Laboratory, Bar Harbor, Maine 04609.
Philos Trans R Soc Lond B Biol Sci. 1988 Dec 1;322(1208):109-18. doi: 10.1098/rstb.1988.0118.
Beginning with findings made during the late 1950s and early 1960s, evidence continues to accumulate in support of the hypothesis that the mammalian Y chromosome carries a gene that induces the undifferentiated foetal gonad in XY individuals to develop as a testis. Recently a DNA sequence has been isolated from the human Y chromosome that appears to be the hypothesized Y-linked testis-determining gene, and advances have also been made toward identifying genes that interact with the Y-linked testis-determining (Tdy) gene to initiate testis formation. These loci have been identified in specific stocks of mice carrying the mutant Thp or TOrl allele at the T locus located on chromosome 17, and in crosses involving the transfer of a Y chromosome from two populations of Mus domesticus into the genomes of specific inbred strains of mice. The data in both cases support the hypothesis that there are several loci involved in testis determination and that abnormal interaction of these loci disrupts initiation of testis determination, resulting in development of ovarian tissue in XY individuals.
从20世纪50年代末和60年代初的研究发现开始，支持哺乳动物Y染色体携带一种基因的假说的证据不断积累，该基因可诱导XY个体中未分化的胎儿性腺发育为睾丸。最近，从人类Y染色体中分离出了一个DNA序列，它似乎就是假定的Y连锁睾丸决定基因，而且在鉴定与Y连锁睾丸决定（Tdy）基因相互作用以启动睾丸形成的基因方面也取得了进展。这些基因座已在17号染色体上T位点携带突变Thp或TOrl等位基因的特定小鼠品系中被鉴定出来，并且在涉及将来自两个家鼠种群的Y染色体转移到特定近交系小鼠基因组的杂交实验中也被鉴定出来。这两种情况下的数据都支持这样的假说，即有几个基因座参与睾丸决定，并且这些基因座的异常相互作用会破坏睾丸决定的启动，导致XY个体发育出卵巢组织。
