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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
Nature Genetics, Volume 39, No. 5, Year 2007
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Description
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. © 2007 Nature Publishing Group.
Authors & Co-Authors
Dieterich, Klaus
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, Saint Martin D'heres
Université Grenoble Alpes
Soto Rifo, Ricardo
France, Paris
Inserm
France, Lyon
Biosciences Gerland-lyon Sud
Karen Faure, Anne
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Albert Bonniot Institute Iab: Ontogenesis and Molecular Oncogenesis
Hennebicq, Sylviane
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Albert Bonniot Institute Iab: Ontogenesis and Molecular Oncogenesis
Amar, Baha Ben
Morocco, Agdal Rabat
Centre de Fiv
Zahi, Mohamed
Morocco, Agdal Rabat
Centre Privé de Fécondation in Vitro
Perrin, Julia
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, Saint Martin D'heres
Université Grenoble Alpes
Martinez, Delphine
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, Saint Martin D'heres
Université Grenoble Alpes
Sèle, Bernard
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Albert Bonniot Institute Iab: Ontogenesis and Molecular Oncogenesis
Jouk, Pierre Simon
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, Saint Martin D'heres
Université Grenoble Alpes
Ohlmann, Théophile
France, Paris
Inserm
France, Lyon
Biosciences Gerland-lyon Sud
Rousseaux, Sophie
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, Saint Martin D'heres
Université Grenoble Alpes
France, La Tronche
Albert Bonniot Institute Iab: Ontogenesis and Molecular Oncogenesis
Lunardi, Joël L.
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, Saint Martin D'heres
Université Grenoble Alpes
Ray, Pierre F.
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, Saint Martin D'heres
Université Grenoble Alpes
Statistics
Citations: 254
Authors: 14
Affiliations: 7
Identifiers
Doi:
10.1038/ng2027
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Sexual And Reproductive Health
Participants Gender
Male