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

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

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

Klaus Dieterich,Ricardo Soto Rifo,Anne Karen Faure,Sylviane Hennebicq,Baha Ben Amar,Mohamed Zahi,Julia Perrin,Delphine Martinez,Bernard ,Pierre-Simon Jouk, Ohlmann,Sophie Rousseaux,Joel Lunardi,Pierre F Ray,Klaus Dieterich,Ricardo Soto Rifo,Anne Karen Faure,Sylviane Hennebicq,Baha Ben Amar,Mohamed Zahi,Julia Perrin,Delphine Martinez,Bernard ,Pierre-Simon Jouk, Ohlmann,Sophie Rousseaux,Joel Lunardi,Pierre F Ray,

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.

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Publishing Authors By Initials

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

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

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Nature genetics

VOLUME: 39

Page Numbers: 661-5

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ISSN: 1061-4036

DAY: 15

MONTH: 04

YEAR: 2007

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

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LANGUAGE: eng

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Grant and Affiliation Information for Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.

AFFILIATION: Centre Hospitalier Universitaire (CHU) de Grenoble, Département de Génétique et Procréation, Unite Fonctionelle (UF) de biochimie génétique et moléculaire, F-38700 La Tronche, France.

Country: United States

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MEDLINETA: Nat Genet

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