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Mol. Hum. Reprod. Advance Access originally published online on January 23, 2009
Molecular Human Reproduction 2009 15(3):165-171; doi:10.1093/molehr/gap003
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© The Author 2009. 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

The highly conserved NANOS2 protein: testis-specific expression and significance for the human male reproduction

K.M. Kusz1, L. Tomczyk1, M. Sajek1, A. Spik1, A. Latos-Bielenska2, P. Jedrzejczak3, L. Pawelczyk3 and J. Jaruzelska1,4

1 Institute of Human Genetics Polish Academy of Sciences, Poznan, Poland 2Department and Chair of Medical Genetics, University of Medical Sciences, Poznan, Poland 3Division of Infertility and Reproductive Endocrinology, University of Medical Sciences, Poznan, Poland

4 Correspondence address. Tel: +48-61657-9208; Fax: +48-61823-3235; E-mail: jaruzjad{at}man.poznan.pl

The highly conserved Nanos gene was found to encode a translational repressor necessary for germ-cell development in lower organisms. The mammalian homologue, Nanos2, was recently found to be expressed in the mouse germ cells. Since its disruption caused infertility exclusively in males, we sought to study the significance of this gene in human male reproduction. Here, we describe for the first time the expression pattern of the NANOS2 gene in human tissues and show that it is testis specific. We found that NANOS2 protein is present in prenatal germ cells and at later stages in spermatogenesis. To elucidate the role of NANOS2 in human germ-line development, we screened this gene for mutations in 214 males with isolated sterility and spermatogenic abnormalities. We identified two heterozygous variants, each in a different oligospermic patient, the second allele being the wild-type. The influence of the first variant, a missense mutation H68Q on the sterility phenotype, was not obvious since it was accompanied by a microdeletion within the AZF region of the Y chromosome. The second variant contained a silent mutation, H109H. Although both mutations were situated within the most conserved RNA-binding domain and were absent in 400 fertile males, it is not obvious that they cause male infertility.

Key words: germ cells/male infertility/NANOS2/spermatogenesis

Submitted on November 2, 2007; resubmitted on December 5, 2008; accepted on January 15, 2009.


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