Insights into the molecular basis of male infertility

The study of the genetic basis of human male infertility is complicated by genetic heterogeneity and because linkage analysis studies are difficult. The study has been limited so far to the analysis of genes located on the Y chromosome. Several genes and gene families have been discovered and mutation analysis of these candidate genes in infertile patients is ongoing. In recent years, several mouse models with impaired spermatogenesis or fertility have also been analysed, expanding our knowledge about the molecular basis of spermatogenesis and male fertility.