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TSPY expression is variably altered in transgenic mice with testicular feminization
Stephanie Schubert1, Kenji Kamino, Detlef Böhm
1Institute of Human Genetics, Hannover Medical School, D-30625 Hannover, Germany. schubert.steffi@mh-hannover.de
Biology of Reproduction
|April 11, 2008
Summary
Testis-specific protein Y (TSPY) gene expression in transgenic mice with androgen insensitivity revealed aberrant splicing and increased testes weight. TSPY did not cause germ cell tumors but was associated with Leydig cell tumors in some cases.
Area of Science:
- Reproductive biology
- Genetics
- Oncology
Background:
- Testis-specific protein Y (TSPY) is a Y-chromosome gene implicated in germ cell proliferation and potentially testis cancer etiology.
- TSPY is a candidate for the gonadoblastoma locus (GBY), linked to gonadoblastoma development in 46,XY sex-reversed individuals.
- Previous studies generated TSPY transgenic mice carrying multiple copies of the human TSPY gene.
Purpose of the Study:
- To investigate TSPY gene expression and its role in gonadal tumorigenesis under conditions of complete androgen insensitivity.
- To analyze TSPY transcript splicing and expression levels in TSPY transgenic mice with the testicular feminization mutation (Ar(Tfm)).
Main Methods:
- Generation of sex-reversed TSPY transgenic Ar(Tfm) mice hemizygous for the testicular feminization mutation.
- Analysis of TSPY transcript splicing and expression in the testes of these mice.
- Monitoring of testes weight, spermatogenesis, and tumor development in TSPY transgenic and control groups.
Main Results:
- TSPY transcript showed aberrant splicing in TSPY-Ar(Tfm) mouse testes.
- TSPY expression was upregulated by androgen insensitivity in some, but not all, TSPY transgenic Ar(Tfm) mice.
- TSPY transgenic mice exhibited significantly increased testes weights; one animal showed spermatogenesis beyond meiotic prophase.
- No germ cell tumors were observed, but Leydig cell tumors developed in a subset of TSPY transgenic Ar(Tfm) mice and control Ar(Tfm) mice, with a higher incidence in the transgenic group.
Conclusions:
- Androgen insensitivity affects TSPY splicing and expression, leading to increased testes weight in TSPY transgenic mice.
- TSPY does not appear to directly cause germ cell tumors but may influence Leydig cell tumorigenesis in the context of androgen insensitivity.
- Further research is needed to fully elucidate the role of TSPY in male germ cell development and testicular cancer.
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