Journal of Andrology Testis Workshop 2009
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Published-Ahead-of-Print January 22, 2009, DOI:10.2164/jandrol.108.006262
Journal of Andrology, Vol. 30, No. 4, July/August 2009
Copyright © American Society of Andrology
DOI: 10.2164/jandrol.108.006262

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Single-Nucleotide Polymorphisms of the PRDM9 (MEISETZ) Gene in Patients With Nonobstructive Azoospermia

SHINJI IRIE*, AKIRA TSUJIMURA{dagger}, YASUSHI MIYAGAWA{dagger}, TOMOHIRO UEDA{dagger}, YASUHIRO MATSUOKA{dagger}, YASUHISA MATSUI{ddagger}, AKIHIKO OKUYAMA{dagger}, YOSHITAKE NISHIMUNE§ AND HIROMITSU TANAKA||

From the * Life Science Research Laboratory, Technical Research Institute, Corporate Manufacturing, Technology and Research Division, Toppan Printing Co, Ltd, Tokyo, Japan; the {dagger} Department of Urology, Graduate School of Medicine, Osaka University, Osaka, Japan; the {ddagger} Cell Resource Center for Biomedical Research, Institute of Development, Aging and Cancer, Tohoku University, Sendai, Japan; the § Research Collaboration Center on Emerging and Re-emerging Infections, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan; and the || Faculty of Pharmaceutical Sciences, Nagasaki International University, Nagasaki, Japan.

Correspondence to: Dr Hiromitsu Tanaka, Faculty of Pharmaceutical Sciences, Nagasaki International University, Sasebo, Nagasaki, 859-3298, Japan (e-mail: h-tanaka{at}niu.ac.jp).



Abstract

To investigate the possible association between variations in the PRDM9 (MEISETZ) gene and impaired spermatogenesis in humans, we screened for mutations in the human PRDM9 gene using DNA from 217 sterile male patients and 162 provenfertile male volunteers. Two single-nucleotide polymorphisms (SNPs), 17353G>T (Gly433Val) and 18109C>G (Thr685Arg), were identified, as well as an intronic SNP, 15549G>T. These SNPs were identified in the heterozygous state in separate patients who demonstrated azoospermia. Neither variant was identified in fertile subjects. Our results suggest that mutations in PRDM9 may cause idiopathic infertility in human males.

     Key words: Sperm, male infertility, genome, SNPs, spermatogenesis






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