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Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.

Abstract : The World Health Organization conservatively estimates that 80 million people suffer from infertility worldwide. Male factors are believed to be responsible for 20-50% of all infertility cases, but microdeletions of the Y chromosome are the only genetic defects altering human spermatogenesis that have been reported repeatedly. We focused our work on infertile men with a normal somatic karyotype but typical spermatozoa mainly characterized by large heads, a variable number of tails and an increased chromosomal content (OMIM 243060). We performed a genome-wide microsatellite scan on ten infertile men presenting this characteristic phenotype. In all of these men, we identified a common region of homozygosity harboring the aurora kinase C gene (AURKC) with a single nucleotide deletion in the AURKC coding sequence. In addition, we show that this founder mutation results in premature termination of translation, yielding a truncated protein that lacks the kinase domain. We conclude that the absence of AURKC causes male infertility owing to the production of large-headed multiflagellar polyploid spermatozoa.
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https://www.hal.inserm.fr/inserm-00381942
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Submitted on : Wednesday, July 8, 2009 - 5:58:30 PM
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Klaus Dieterich, Ricardo Soto Rifo, Anne Karen Faure, Sylviane Hennebicq, Baha Ben Amar, et al.. Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.. Nature Genetics, Nature Publishing Group, 2007, 39 (5), pp.661-5. ⟨10.1038/ng2027⟩. ⟨inserm-00381942⟩

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