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Mol. Hum. Reprod. Advance Access originally published online on September 2, 2005
Molecular Human Reproduction 2005 11(8):567-574; doi:10.1093/molehr/gah209
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© The Author 2005. 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@oupjournals.org

Combinations of genetic changes in the human cAMP-responsive element modulator gene: a clue towards understanding some forms of male infertility?

K. Vouk1,*, P. Hudler1,*, L. Strmsnik2, M. Fink1, G. Majdic2, B. Zorn3, E. Lalli4, P. Sassone-Corsi4, N. Debeljak1, R. Komel1 and D. Rozman1,5,6

1Institute of Biochemistry, Medical Center for Molecular Biology, 2Clinic for Reproduction of Domestic Animals, University of Ljubljana, 3Department of Obstetrics and Gynecology, Andrology Center, University Medical Center Ljubljana, Ljubljana, Slovenia, 4Institut de Génétique et Biologie Moléculaire et Cellulaire, CNRS, INSERM, Université Louis Pasteur Illkirch-C.U. de Strasbourg, Illkirch, Strasbourg, France and 5Center for Functional Genomics and Bio-Chips, Institute of Biochemistry, University of Ljubljana, Ljubljana, Slovenia

6 To whom correspondence should be addressed at: Center for Functional Genomics and Bio-Chips, Institute of Biochemistry, University of Ljubljana, Zaloka 4, SI-1000 Ljubljana, Slovenia. E-mail: damjana.rozman{at}mf.uni-lj.si

The cAMP-responsive element modulator (CREM) gene plays a pivotal role in the mouse spermatogenesis, but its role in the human infertility has not been fully established. We performed a mutation screening in 13 Slovenian men with round spermatid arrest and in six controls. Eleven genetic changes have been identified in the human CREM gene, three novel single-nucleotide polymorphisms [within the promoters P1, P3 and intervening sequence 1 (IVS1)], one insertion (IVS2) and one non-sense mutation (exon {gamma}). Some infertile patients seem to accumulate potentially harmful genetic changes. We identified a patient with no CREM immunoreactive protein that was homozygous for the nucleotide changes in all promoters, IVS 1, 2, 6, and was heterozygous for the mutation in exon {gamma}. Interestingly, insertion in IVS2 (IVS2-58_55insT) results in a four-fold decrease in binding of nuclear proteins. Computer predictions suggested the presence of a potential novel CREM promoter, however, random amplification of cDNA ends from the human testis cDNA library was not successful in confirming a novel transcription start site of the CREM gene. Screening of a larger number of patients and controls is required to elucidate whether the observed combinations of genetic changes in the CREM gene can explain some forms of male infertility.

Key words: CREM/expression/mutation detection/non-obstructive azoospermia/regulation

* The authors equally contributed to this work.


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