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

Klaus Dieterich; Raoudha Zouari; Radu Harbuz; François Vialard; Delphine Martinez; Hanane Bellayou; Nadia Prisant; Abdelali Zoghmar; Marie Roberte Guichaoua; Isabelle Koscinski; Mahmoud Kharouf; Mehrdad Noruzinia; Sellama Nadifi; Abdelaziz Sefiani; Jacqueline Lornage; Mohamed Zahi; Stéphane Viville; Bernard Sèle; Pierre-Simon Jouk; Marie-Christine Jacob; Denise Escalier; Yorgos Nikas; Sylviane Hennebicq; Joël Lunardi; Pierre Ray

doi:10.1093/hmg/ddp029

Journal articles

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, *}

* Corresponding author

1 Département de génétique et procréation

2 Clinique de la reproduction les Jasmins

3 Laboratoire de Cytogénétique

4 Laboratoire de Génétique et Pathologie Moléculaire

5 Assistance médicale à la procréation, Biologie de reproduction - Stérilité [Pitié-Salpétrière]

6 Centre de Médecine de la Reproduction

7 Laboratoire de biologie de la reproduction

8 Service de Biologie de la Reproduction

9 Department of Hematology

10 Département de génétique médicale

11 Laboratoire de biologie de la reproduction

12 Centre privé de Fécondation in vitro

13 RFMQ

TIMC [2011-2015] - Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 [2011-2015], Département de génétique et procréation

14 Laboratoire d'Immunocytologie

15 Bases moléculaires et cellulaires des maladies génétiques

16 Athens Innovative Microscopy

17 GIN - Grenoble Institut des Neurosciences

18 ARCHAMPS

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.

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Biochemistry, Molecular Biology

Complete list of metadatas

https://www.hal.inserm.fr/inserm-00410300
Contributor : Nathalie Roux-Buisson <>
Submitted on : Wednesday, July 13, 2011 - 3:53:26 PM
Last modification on : Wednesday, August 19, 2020 - 12:06:25 PM
Long-term archiving on: : Friday, December 2, 2016 - 9:56:54 PM

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

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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.

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