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The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.

Klaus Dieterich 1 Raoudha Zouari 2 Radu Harbuz 1 François Vialard 3 Delphine Martinez 1 Hanane Bellayou 4 Nadia Prisant 5 Abdelali Zoghmar 6 Marie Roberte Guichaoua 7 Isabelle Koscinski 8 Mahmoud Kharouf 2 Mehrdad Noruzinia 9 Sellama Nadifi 4 Abdelaziz Sefiani 10 Jacqueline Lornage 11 Mohamed Zahi 12 Stéphane Viville 8 Bernard Sèle 1 Pierre-Simon Jouk 13 Marie-Christine Jacob 14 Denise Escalier 15 Yorgos Nikas 16 Sylviane Hennebicq 1 Joël Lunardi 1, 17 Pierre Ray 18, *
Abstract : Infertility concerns a minimum of 70 million couples worldwide. An important proportion of cases is believed to have a genetic component, yet few causal genes have been identified so far. In a previous study, we demonstrated that a homozygous mutation (c.144delC) in the Aurora Kinase C (AURKC) gene led to the production of large-headed polyploid multi-flagellar spermatozoa, a primary infertility phenotype mainly observed in North Africans. We now want to estimate the prevalence of the defect, to improve our understanding of AURKC physiopathology in spermatogenesis and assess its implication in oogenesis. A carrier frequency of 1/50 was established from individuals from the Maghrebian general population, comparable to that of Y-microdeletions, thus far the only known recurrent genetic event altering spermatogenesis. A total of 62 patients were genotyped, all who had a typical phenotype with close to 100% large-headed spermatozoa were homozygously mutated (n = 32), whereas no AURKC mutations were detected in the others. Two homozygous females were identified; both were fertile indicating that AURKC is not indispensible in oogenesis. Previous FISH results had showed a great chromosomal heterogeneity in these patient's spermatozoa. We demonstrate here by flow cytometry that all spermatozoa have in fact a homogeneous 4C DNA content and are thus all blocked before the first meiotic division. Our data thus indicate that a functional AURKC protein is necessary for male meiotic cytokinesis while its absence does not impair oogenesis.
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Submitted on : Wednesday, July 13, 2011 - 3:53:26 PM
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Klaus Dieterich, Raoudha Zouari, Radu Harbuz, François Vialard, Delphine Martinez, et al.. The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.. Human Molecular Genetics, Oxford University Press (OUP), 2009, 18 (7), pp.1301-9. ⟨10.1093/hmg/ddp029⟩. ⟨inserm-00410300⟩



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