Raymond C S, Murphy M W, O'Sullivan M G, Bardwell V J, Zarkower D
Graduate Program in Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, Minnesota 55455, USA.
Genes Dev. 2000 Oct 15;14(20):2587-95. doi: 10.1101/gad.834100.
The only molecular similarity in sex determination found so far among phyla is between the Drosophila doublesex (dsx) and Caenorhabditis elegans mab-3 genes. dsx and mab-3 contain a zinc finger-like DNA-binding motif called the DM domain, perform several related regulatory functions, and are at least partially interchangeable in vivo. A DM domain gene called Dmrt1 has been implicated in male gonad development in a variety of vertebrates, on the basis of embryonic expression and chromosomal location. Such evidence is highly suggestive of a conserved role(s) for Dmrt1 in vertebrate sexual development, but there has been no functional analysis of this gene in any species. Here we show that murine Dmrt1 is essential for postnatal testis differentiation, with mutant phenotypes similar to those caused by human chromosome 9p deletions that remove the gene. As in the case of 9p deletions, Dmrt1 is dispensable for ovary development in the mouse. Thus, as in invertebrates, a DM domain gene regulates vertebrate male development.
迄今为止，在不同门生物中发现的性别决定方面唯一的分子相似性存在于果蝇的双性基因（dsx）和秀丽隐杆线虫的mab - 3基因之间。dsx和mab - 3含有一种名为DM结构域的锌指样DNA结合基序，执行多种相关的调控功能，并且在体内至少部分可互换。基于胚胎表达和染色体定位，一个名为Dmrt1的DM结构域基因已被证明与多种脊椎动物的雄性性腺发育有关。这些证据强烈暗示了Dmrt1在脊椎动物性发育中具有保守作用，但尚未对任何物种的该基因进行功能分析。在此我们表明，小鼠Dmrt1对于出生后睾丸分化至关重要，其突变表型与因人类9号染色体p臂缺失该基因所导致的表型相似。与9号染色体p臂缺失的情况一样，Dmrt1对于小鼠卵巢发育并非必需。因此，与无脊椎动物一样，一个DM结构域基因调控脊椎动物的雄性发育。
