抄録
Loss-of-function and gain-of-function studies have demonstrated that genes encoding Wt1, Ad4BP/SF-1, Emx2, and Lhx9 are required for gonad development, while genes encoding Sry, Sox9, Wt-1, M33, Dax-1, Fgf9, Arx, Wnt4, and Dhh exert their functions during the process of gonad sex determination/differentiation. Although these studies largely contributed to identify the components essential for gonad differentiation and/or gonad sex determination, functional relation between the components has remained to be elucidated. Our recent studies have been focused on this subject to realize the genetic program involved in gonad differentiation. Gain-of-function and loss-of-function studies with mice and chick embryos have been undertaken, and these studies revealed that Ad4BP/SF-1 is localized at the downstream of M33, Emx2, PITX2, and retinoic acid, and these regulations appears to be implicated in gonadal development through accelerating cell cycle progression. In addition, genetic studies demonstrated that M33 is localized at the upstream of Sry and Sox9 involved in testicular development. Although these studies indicated genetic correlations between the genes, it still remains elusive whether these correlations are direct or indirect. To determine it, we have performed in vivo transgenic analyses of the promoter function of Ad4BP/SF-1 and in vitro biochemical studies of the transcription factors. These studies help us understand the genetic program of gonad development and gonad sex differentiation. [J Physiol Sci. 2008;58 Suppl:S40]
