Journal of Andrology
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Published-Ahead-of-Print February 10, 2006, DOI:10.2164/jandrol.05162

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Infertility caused by polymorphisms or mutations in spermatogenesis-specific genes

Yoshitake Nishimune and Hiromitsu Tanaka

As many as 15% of couples are unable to conceive, and males are known to be responsible for half of the instances of infertility. Although advances in medical technology have allowed some infertile couples to have children, the causes of infertility are, in most cases, unknown. Many genes are expressed exclusively in the testes, particularly in the testicular germ cells. It is reasonable to propose that functional deficiencies in the genes expressed exclusively in spermatogenesis should lead to male infertility when there is no observable abnormality in the somatic cells of various organs. Hence, in order to understand idiopathic male infertility, comprehensive isolation of the genes expressed specifically in the testes, and characterization of the gene products in spermatogenesis, are essential. Here, we describe the cloning and characterization of germ cell-specific genes and analyses of infertility resulting from mutations of human germ cell-specific genes in our laboratory.




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