Skip Navigation



Mol. Hum. Reprod. Advance Access published online on January 23, 2009
Molecular Human Reproduction, doi:10.1093/molehr/gap003
This Article
Right arrow Advance Access manuscript (PDF)
Right arrow All Versions of this Article:
15/3/165    most recent
gap003v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Kusz, K.M.
Right arrow Articles by Jaruzelska, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kusz, K.M.
Right arrow Articles by Jaruzelska, J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 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

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

To whom correspondence should be addressed: Jadwiga Jaruzelska, Ph.D. Institute of Human Genetics Polish Academy of Sciences Strzeszynska 32, 60-479 Poznan, Poland Tel: 48 61657 9208 Fax: 48 61823 3235 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 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.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.