Molecular mechanisms in male determination and germ cell differentiation

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Sex determination and gametogenesis are key processes in human reproduction, and any defect can lead to infertility. We describe here the molecular mechanisms of male sex determination and testis formation; defects in sex determination lead to a female phenotype despite the presence of a Y chromosome, more rarely to a male phenotype with XX chromosomes, or to intersex phenotypes. Interestingly, these phenotypes are often associated with other developmental malformations. In testis, spermatozoa are produced from renewable stem cells in a complex differentiation process called spermatogenesis. Gene expression during spermatogenesis differs to a surprising degree from gene expression in somatic cells, and we discuss here mechanistic differences and their effect on the differentiation process and male fertility.

Original languageEnglish
Pages (from-to)1907-1925
Number of pages19
JournalCellular and Molecular Life Sciences
Issue number15
Publication statusPublished - Aug 2004


  • Chromatin
  • Gene expression
  • Male infertility
  • Sex determination
  • Spermatogenesis

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Cell Biology


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