کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2812196 | 1569293 | 2007 | 8 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia](/preview/png/2812196.png)
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.
Journal: - Volume 81, Issue 4, October 2007, Pages 813–820