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Genetic dissection of mammalian fertility pathways

Nature Medicine volume 8, page S40 (2002)Cite this article

Abstract

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.

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Figure 1: Genetic aetiologies of human male infertility.
Figure 2: Genes involved in the regulation of male reproduction in the mouse.
Figure 3: Spermatogenic failure in the human.
Figure 4: Female fertility proteins.
Figure 5: Mouse knockout models to study folliculogenesis.

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Acknowledgements

The authors thank S. Baker for her expert assistance in manuscript formatting, and R. Behringer, K. Burns, and M.R. Maduro for critical review of the manuscript. We also thank K. Burns and W. Yan for help with the Supplementary Information Table. Studies in the Matzuk and Lamb laboratories on fertility pathways have been supported by the National Institutes of Health (grants HD33438, CA60651, HD32067 and HD36289) and the Specialized Cooperative Centers Program in Reproduction Research (grant HD07495).

Supplementary Information accompanies the paper at www.nature.com/fertility. All gene names are spelled out in full in the Supplementary Information Table.

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Authors and Affiliations

  1. Department of Pathology, Baylor College of Medicine, Houston, 77030, TX, USA

    Martin M. Matzuk

  2. Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, 77030, TX, USA

    Martin M. Matzuk & Dolores J. Lamb

  3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, TX, USA

    Martin M. Matzuk

  4. Scott Department of Urology, Baylor College of Medicine, Houston, 77030, TX, USA

    Dolores J. Lamb

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  1. Martin M. Matzuk
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  2. Dolores J. Lamb
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Correspondence to Martin M. Matzuk.

Supplementary information

41591_2002_BFnmfertilityS41_MOESM1_ESM.pdf

Online table: Mouse mutations causing reproductive defects. Only single mutant defects are described. Fertility defects of unknown gene origin are not described. M, male; F, female; Hetero, heterozygote phenotype

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Matzuk, M., Lamb, D. Genetic dissection of mammalian fertility pathways. Nat Med 8 (Suppl 10), S40 (2002). https://doi.org/10.1038/nm-fertilityS41

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