About Us |
PMID | 18547510 |
Gene Name | SPATA16 |
Condition | Globozoospermia |
Association |
Associated |
Sex | Male |
Infertility type | Male infertility |
Associated genes | SPATA16 |
Other associated phenotypes |
Globozoospermia |
[The acrosome: comparative morphology and development, contribution of a human familial globozoospermia case report] Koscinski I, Jaeger AS, Moutou C, Viville S. Sperm acrosome is known to play a role in the fertilization of the majority of animal species studied. As a general rule, the acrosome appeared as soon as the fertilization occurred out of aquaeous phase. The biochemical content of acrosome as well as its release mode could suggest it is a simple lysosome. But this would by pass its important morphogenic role in spermiogenesis. Its development is strongly linked to the development of the microtubules manchette system. Molecular data of animal mutagenesis contribute to the understanding of acrosome biogenesis mechanisms. Globozoospermia is a rare but severe human teratozoospermia, characterized by ejaculates entirely consisting of round-headed spermatozoa that lack an acrosome. It originates from a disturbed acrosome biogenesis. Recently, the genetic study of a familial globozoospermia led to highlight a homozygote mutation of the gene SPATA16, linked to the globozoospermic phenotype. This study contributes to the understanding of the mechanisms implied in human acrosome formation. FAU - Koscinski, Isabelle AU - Koscinski I AD - Laboratoire de Biologie de la Reproduction, SIHCUS- CMCO, 19 rue Louis Pasteur, 67303 Schiltigheim Cedex, France. isabelle.koscinski@chru-strasbourg.fr FAU - Jaeger, Anne Sophie AU - Jaeger AS FAU - Moutou, CĂ©line AU - Moutou C |