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Hum. Reprod. Advance Access published online on August 26, 2006
Human Reproduction, doi:10.1093/humrep/del341
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received August 11, 2005
Revised July 9, 2006
Accepted July 27, 2006

Article

Expression profile of AZF genes in testicular biopsies of azoospermic men

S.E. Kleiman 1 *, L. Yogev 1, R. Hauser 1, A. Botchan 1, B.B.-S. Maymon 2, G. Paz 1, and H. Yavetz 1

1 Institute for the Study of Fertility, Lis Maternity Hospital, Israel
2 Institute of Pathology, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

* To whom correspondence should be addressed.
S.E. Kleiman, E-mail: ser{at}tasmc.health.gov.il


  Abstract

BACKGROUND: The Y-chromosome AZF regions include genes whose functions and specific roles in spermatogenesis have not been fully clarified. This study investigated the expression of several AZF (USP9Y, DDX3Y/DDX3Yt1, EIF1AY and PRY) and USP9X transcripts in testicular biopsies of 89 azoospermic men who had been classified by histology and cytology assessments. METHODS: Expression was analysed by RT-PCR, and some biopsies were evaluated by multiplex RT-PCR. Quantitative PCR was performed in some biopsies to determine the ratio of the testis-specific transcript DDX3Yt1 to the total DDX3Y transcription. RESULTS: The expression of USP9Y, USP9X and DDX3Y was found in all the specimens tested, whereas DDX3Yt1 expression was diminished or undetectable in several biopsies with impaired spermatogenesis. EIF1AY was detected in all except two of the specimens. Noteworthy, PRY expression was detected mainly in biopsies with germ cells, and this association was significant (P < 0.001). An identical expression profile was obtained by either single or multiplex RT-PCR. CONCLUSIONS: These findings suggest that PRY is usually expressed in germ cells, whereas the other transcripts are also expressed in testicular somatic cells. The absence of EIF1AY expression might sporadically contribute to azoospermia. The decreased ratio of DDX3Yt1/DDX3Y transcript in impaired spermatogenesis suggests that the DDX3Yt1 transcript is under-expressed in impaired spermatogenesis. The findings contribute to the search and selection of the most valuable gene markers potentially useful as additional tools for predicting complete spermatogenesis by multiplex expression analysis.

Keywords: AZF gene expression/azoospermia/infertility/markers of spermatogenesis/testicular expression.
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