Elliott D J, Cooke H J
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
Bioessays. 1997 Sep;19(9):801-9. doi: 10.1002/bies.950190910.
Spermatogenesis is an elaborate process involving both cell division and differentiation, and cell-cell interactions. Defects in any of these processes can result in infertility, and in some cases these can be genetic in cause. Mapping experiments have defined at least three regions of the human Y chromosome that are required for normal spermatogenesis. Two of these contain the genes encoding the RNA binding proteins RBM and DAZ, suggesting that the control of RNA metabolism is likely to be an important control point for human spermatogenesis. A similar analysis in mice has shown that at least two regions of the mouse Y chromosome are essential for spermatogenesis. Both genetic and reverse genetic approaches have been used to identify mouse autosomal genes required for spermatogenesis. These studies have shown that genes in a number of different pathways are essential for normal spermatogenesis, and also provide putative models of human infertility.
精子发生是一个复杂的过程，涉及细胞分裂、分化以及细胞间相互作用。这些过程中任何一个出现缺陷都可能导致不育，在某些情况下，其原因可能是遗传因素。定位实验已经确定了人类Y染色体上至少三个正常精子发生所必需的区域。其中两个区域包含编码RNA结合蛋白RBM和DAZ的基因，这表明RNA代谢的调控可能是人类精子发生的一个重要控制点。对小鼠的类似分析表明，小鼠Y染色体上至少有两个区域对精子发生至关重要。遗传和反向遗传方法都已被用于鉴定精子发生所需的小鼠常染色体基因。这些研究表明，许多不同途径中的基因对于正常精子发生至关重要，同时也提供了人类不育的假定模型。
