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Hum. Reprod. Advance Access originally published online on March 3, 2005
Human Reproduction 2005 20(5):1314-1318; doi:10.1093/humrep/deh799
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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{at}oupjournals.org

Search for mutations involved in human globozoospermia*

Olivier Pirrello1,2,3,a, Nadejda Machev1,3,a, Françoise Schimdt1,4, Philippe Terriou5, Yves Ménézo6 and Stéphane Viville1,3,7

1 Service de Biologie de la Reproduction 2 Service de Gynécologie Obstétrique - SIHCUS-CMCO, CHU de Strasbourg, 19, rue Louis Pasteur, BP120, 67303 Schiltigheim cedex, 3 Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, BP163 1, rue Laurent Fries, F-67400 Illkirch Cedex, CU de Strasbourg, 4 CECOS-Mulhouse, Hopital Emile Muller, 20, rue Laennec 68000 Mulhouse, 5 Institut de Médecine de la Reproduction, Marseilles and 6 IRH/Laboratoire Marcel Merieux, Bron, France

7 To whom correspondence should be addressed. Email: viville{at}igbmc.u-strasbg.fr

BACKGROUND: Globozoospermia is a severe form of teratozoospermia characterized by round-headed sperm with an absence of acrosomes. Family cases of globozoopermia suggest that this pathology has genetic origins, but the mode of inheritance remains unknown. So far, no responsible genes have been identified. Recently, a mouse lacking the casein kinase II{alpha}' (encoded by the Csnk2a2 gene) was described. This mutant mouse presents a single phenotype reminiscent of that seen in human globozoospermia. Interestingly, the fission yeast orthologue (orb5) exhibits, when mutated, a spherical phenotype. Casein kinase II is a heterotetramer, composed of two catalytic subunits {alpha} or {alpha}' and two regulatory {beta} subunits (encoded by the Csnk2b gene). METHODS and RESULTS: Based on the evolution conservation, phenotypes observed in mouse and yeast mutant and the structure of casein kinase II, we analysed Csnk2a2 and Csnk2b genes in six patients with globozoospermia and 10 fertile controls. Genomic DNA was extracted from peripheral blood and PCR was performed to amplify Csnk2a2 and Csnk2b genes before sequencing. CONCLUSION: No mutation was identified among these six patients. Further work is needed, with a larger patient data set, to identify putative genes involved in this form of male infertility.

Key words: casein kinase/globozoospermia/male infertility/round-headed sperm

aThese two authors contributed equally to this work.

* The results of these studies were presented in part at the 20th Annual Meeting of the ESHRE, Berlin, Germany, 2004.


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