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Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
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Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
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Journal Article
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility
2007
Overview
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
1
. 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)
2
,
3
,
4
. 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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Complications and side effects
/ Fundamental and applied biological sciences. Psychology
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genomics
/ Gynecology. Andrology. Obstetrics
/ Humans
/ In Situ Hybridization, Fluorescence
/ Infertility, Male - genetics
/ letter
/ Male
/ Microsatellite Repeats - genetics
/ Mutation
/ Pedigree
/ Protein-Serine-Threonine Kinases
