Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.

Anika H D M Dam , Isabelle Koscinski (1) , Jan a M Kremer , Celine Moutou , Anne-Sophie Jaeger (1) , Astrid R Oudakker , Herman Tournaye , Nicolas Charlet (1) , Clotilde Lagier-Tourenne (1) , Hans van Bokhoven , Stephane Viville (1)

1 IGBMC - Institut de génétique et biologie moléculaire et cellulaire

Globozoospermia is a rare (incidence <0.1% in male infertile patients) form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. It originates from a disturbed spermiogenesis, which is expected to be induced by a genetic factor. Several family cases and recessive mouse models with the same phenotype support this expectation. In this study, we present a consanguineous family with three affected brothers, in whom we have identified a homozygous mutation in the spermatogenesis-specific gene SPATA16. This is the first example of a nonsyndromic male infertility condition in humans caused by an autosomal gene defect, and it could also mean that the identification of other partners like SPATA16 could elucidate acrosome formation.

Domaines: Biologie moléculaire

Anika H D M Dam, Isabelle Koscinski, Jan a M Kremer, Celine Moutou, Anne-Sophie Jaeger, et al.. Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.. American Journal of Human Genetics, 2007, 81 (4), pp.813-20. ⟨10.1086/521314⟩. ⟨hal-00188891⟩