• PMID: 17435757
• Gene Name: AURKC
• Condition: Infertility
• Association: We conclude that the absence of AURKC causes male infertility owing to the production of large-headed multiflagellar polyploid spermatozoa
• Mutation: single nucleotide deletion in the AURKC coding sequence
• Population size: 10
• Population details: 10 infertile
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Macrozoospermia

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

Dieterich K, Soto Rifo R, Faure AK, Hennebicq S, Ben Amar B, Zahi M, Perrin J, Martinez D, Sèle B, Jouk PS, Ohlmann T, Rousseaux S, Lunardi J, Ray PF.

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. FAU - Dieterich, Klaus AU - Dieterich K AD - Centre Hospitalier Universitaire (CHU) de Grenoble, Département de Génétique et Procréation, Unite Fonctionelle (UF) de biochimie génétique et moléculaire, F-38700 La Tronche, France. FAU - Soto Rifo, Ricardo AU - Soto Rifo R FAU - Faure, Anne Karen AU - Faure AK FAU - Hennebicq, Sylviane AU - Hennebicq S FAU - Ben Amar, Baha AU - Ben Amar B FAU - Zahi, Mohamed AU - Zahi M FAU - Perrin, Julia AU - Perrin J FAU - Martinez, Delphine AU - Martinez D FAU - Sèle, Bernard AU - Sèle B FAU - Jouk, Pierre-Simon AU - Jouk PS FAU - Ohlmann, Théophile AU - Ohlmann T FAU - Rousseaux, Sophie AU - Rousseaux S FAU - Lunardi, Joel AU - Lunardi J