Institute of Human Genetics, Hannover Medical School, D-30625 Hannover, Germany.
Genes (Basel). 2010 Aug 18;1(2):244-62. doi: 10.3390/genes1020244.
The TSPY gene, which encodes the testis-specific protein, Y-encoded, was first discovered and characterized in humans, but orthologous genes were subsequently identified on the Y chromosome of many other placental mammals. TSPY is expressed in the testis and to a much lesser extent in the prostate gland, and it is assumed that TSPY serves function in spermatogonial proliferation and/or differentiation. It is further supposed that TSPY is involved in male infertility and exerts oncogenic effects in gonadal and prostate tumor formation. As a member of the TSPY/SET/NAP protein family, TSPY is able to bind cyclin B types, and stimulates the cyclin B1-CDK1 kinase activity, thereby accelerating the G2/M phase transition of the cell cycle of target cells. Because the laboratory mouse carries only a nonfunctional Y-chromosomal Tspy-ps pseudogene, a knockout mouse model for functional research analyses is not a feasible approach. In the last decade, three classical transgenic mouse models have been developed to contribute to our understanding of TSPY regulation, expression and function. The different transgenic mouse approaches and their relevance for studying TSPY regulation, expression and function are discussed in this review.
TSPY 基因编码睾丸特异性蛋白 Y 编码，最初在人类中被发现和鉴定，但随后在许多其他胎盘哺乳动物的 Y 染色体上也鉴定出了同源基因。TSPY 在睾丸中表达，在前列腺中表达程度较低，据推测 TSPY 在精原细胞增殖和/或分化中发挥作用。进一步推测 TSPY 与男性不育有关，并在性腺和前列腺肿瘤形成中发挥致癌作用。作为 TSPY/SET/NAP 蛋白家族的一员，TSPY 能够与细胞周期蛋白 B 类型结合，并刺激细胞周期蛋白 B1-CDK1 激酶活性，从而加速靶细胞的细胞周期 G2/M 期过渡。由于实验小鼠只携带一个无功能的 Y 染色体 Tspy-ps 假基因，因此功能性研究分析的敲除小鼠模型不是一种可行的方法。在过去的十年中，已经开发了三种经典的转基因小鼠模型，有助于我们理解 TSPY 的调控、表达和功能。本文讨论了不同的转基因小鼠方法及其在研究 TSPY 调控、表达和功能方面的相关性。
