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Mol. Hum. Reprod. Advance Access published online on September 2, 2005
Molecular Human Reproduction, 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
Received July 6, 2005
Accepted July 19, 2005

Article

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

K. Vouk 1 *, P. Hudler 1 *, L. Strmsnik 2, M. Fink 1, G. Majdic 2, B. Zorn 3, E. Lalli 4, P. Sassone-Corsi 4, N. Debeljak 1, R. Komel 1, and D. Rozman 5*

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

* To whom correspondence should be addressed.
D. Rozman, E-mail: damjana.rozman{at}mf.uni-lj.si


  Abstract

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.

Keywords: CREM/expression/mutation detection/non-obstructive azoospermia/regulation.

*The authors equally contributed to this work


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