Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. - Archive ouverte HAL Access content directly
Journal Articles Nature Genetics Year : 2007

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

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Baha Ben Amar
  • Function : Author
Théophile Ohlmann

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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Dates and versions

inserm-00381942 , version 1 (08-07-2009)

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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, 2007, 39 (5), pp.661-5. ⟨10.1038/ng2027⟩. ⟨inserm-00381942⟩
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