Analysis of genes involved in male infertility

Project Details


Male infertility, which accounts for ~30% of the fertility problems, is usually associated with a decreased production of spermatozoa. Causes can be acquired or inherited, though in ~70% of the cases the cause of the abnormal spermatogenesis remains unknown. It is obvious that male infertility remains largely unexplained. This project aims to identify and characterize genetic causes of male infertility. For this purpose, three studies will be initiated and further extended depending on the observations made.
In a first study, three genes (ETV5, MSH4 and STRA8) possibly involved in SCOS will be studied. SCOS is a frequent observed phenotype in men facing non-obstructive azoospermia. Defects can be expected in either Sertoli cells as they have a supporting function or in the germ cell itself. The three genes will be analyzed for the presence of mutations in men with Sertoli cell-only syndrome.
In a second part of this project, the MSH4 gene, which is located at chromosomal region 1p31 will be studied. In an infertile male population more chromosomal rearrangements of chromosome 1 such as translocations and inversions are found compared to other chromosomes and the general population. This suggests that a gene crucial for spermatogenesis might be located in this region. We will investigate whether this gene is disrupted in patients with an arrangement at chromosomal region 1p31. Since MSH4 is essential for meiosis, also patients with a maturation arrest of spermatogenesis will be analyzed for the presence of mutations.
In a last study, partial deletions of the AZFb region will be explored. Just as the AZFc region, AZFb contains many repetitive sequences. Therefore, it might be possible that also partial deletions of the AZFb region are occurring, which might cause fertility problems.
Effective start/end date1/01/0831/12/11


  • fertility

Flemish discipline codes

  • Basic sciences