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Generation and Characterization of a Transgenic Mouse with a Functional Human TSPY¹

Institute of Human Genetics,⁴ Hannover Medical School, D-30623 Hannover, Germany Institute of Human Genetics,⁵ University of Göttingen, D-37073 Göttingen, Germany Department of Anatomy and Cell Biology,⁶ Justus-Liebig-University, D-35385 Giessen, Germany Institute of Human Genetics, Biocenter,⁷ University of Würzburg, D-97074 Würzburg, Germany

To generate an animal model that is suitable for the analysis of regulation and expression of human testis-specific protein, Y-encoded TSPY, a transgenic mouse line, TgTSPY9, harboring a complete structural human TSPY gene was generated. Fluorescence in situ hybridization and Southern analyses show that approximately 50 copies of the human TSPY transgene are integrated at a single chromosomal site that maps to the distal long arm of the Y chromosome. The transgene is correctly transcribed and spliced according to the human pattern and is mainly expressed in testicular tissue, with spermatogonia and early primary spermatocytes (leptotene and zygotene) as expressing germ cells. TSPY transgenic mice are phenotypically normal, and spermatogenesis is neither impaired nor enhanced by the human transgene. The present study shows that a human TSPY gene integrated into the mouse genome follows the human expression pattern although murine tspy had lost its function in rodent evolution millions of years ago.

¹ This work was supported by the Deutsche Forschungsgemeinschaft (SFB 271 to W.E. and SCHM 373/16-2 to J.S.).

² Correspondence: Jörg Schmidtke, Institute of Human Genetics, Hannover Medical School, Carl-Neuberg-Str.1, D-30623 Hannover, Germany. FAX: 0049 511 532 5865; schmidtke.joerg{at}mh-hannover.de

³ Current address: Laboratory of Cytogenetic and Molecular Genetics, D-31134 Hildesheim, Germany

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