Molecular mechanisms in male determination and germ cell differentiation

Research output: Contribution to journalArticle

Abstract

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
Volume61
Issue number15
Publication statusPublished - Aug 2004

Keywords

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

ASJC Scopus subject areas

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

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