Genetic dissection of mammalian fertility pathways

Nat Cell Biol. 2002 Oct:4 Suppl:s41-9. doi: 10.1038/ncb-nm-fertilityS41.


The world's population is increasing at an alarming rate and is projected to reach nine billion by 2050. Despite this, 15% of couples world-wide remain childless because of infertility. Few genetic causes of infertility have been identified in humans; nevertheless, genetic aetiologies are thought to underlie many cases of idiopathic infertility. Mouse models with reproductive defects as a major phenotype are being rapidly created and discovered and now total over 200. These models are helping to define mechanisms of reproductive function, as well as identify potential new contraceptive targets and genes involved in the pathophysiology of reproductive disorders. With this new information, men and women will continue to be confronted with difficult decisions on whether or not to use state-of-the-art technology and hormonal treatments to propagate their germline, despite the risks of transmitting mutant genes to their offspring.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Female
  • Humans
  • Infertility, Female / etiology*
  • Infertility, Female / genetics*
  • Infertility, Male / etiology*
  • Infertility, Male / genetics*
  • Male
  • Meiosis
  • Mice
  • Models, Biological
  • Recombination, Genetic
  • Reproduction / genetics*
  • Spermatogenesis