Miyamoto Toshinobu, Tsujimura Akira, Miyagawa Yasushi, Koh Eitetsu, Sato Hisashi, Namiki Mikio, Sengoku Kazuo
Department of Obstetrics and Gynecology Asahikawa Medical College Midorigaokahigashi 2-1-1-1 078-8510 Asahikawa Hokkaido Japan.
Department of Urology Osaka University Graduate School of Medicine Suita Japan.
Reprod Med Biol. 2010 Jun 16;9(3):121-127. doi: 10.1007/s12522-010-0054-5. eCollection 2010 Sep.
Infertility is a serious social problem in advanced nations today. One of the most important causes is the male factor. Striking progress has been achieved in recent years in elucidating the mechanisms of spermatogenesis in mice by experimental methods represented by the knockout mouse. Although many factors associated with male infertility are known in mice, the translation of this information to people has been slow. This is because the knockout mouse phenotype cannot necessarily be reproduced faithfully in humans. However, it is known that environmental factors, chromosomal defects and several specific gene mutations result in human male infertility. In this review, we first discuss the environmental factors considered likely to be involved in male infertility, and secondly we describe the Y chromosome and several important genes on the Y chromosome that play critical roles in spermatogenesis in humans. Then, we demonstrate the three critical genes identified in our laboratory in autosomes involved in human spermatogenesis, the , and -. Finally, we explain the future directionality and possibilities of research in this field.
如今，不孕不育在发达国家是一个严重的社会问题。其中一个最重要的原因是男性因素。近年来，以基因敲除小鼠为代表的实验方法在阐明小鼠精子发生机制方面取得了显著进展。虽然在小鼠中已知许多与男性不育相关的因素，但将这些信息转化到人类身上的进程一直很缓慢。这是因为基因敲除小鼠的表型不一定能在人类中如实地重现。然而，已知环境因素、染色体缺陷和几种特定的基因突变会导致人类男性不育。在这篇综述中，我们首先讨论被认为可能与男性不育有关的环境因素，其次描述Y染色体以及Y染色体上在人类精子发生中起关键作用的几个重要基因。然后，我们展示了在我们实验室中在常染色体上鉴定出的参与人类精子发生的三个关键基因，即 、 和 - 。最后，我们解释了该领域研究的未来方向性和可能性。
