Single-nucleotide polymorphisms of the PRDM9 (MEISETZ) gene in patients with nonobstructive azoospermia

Shinji Irie, Akira Tsujimura, Yasushi Miyagawa, Tomohiro Ueda, Yasuhiro Matsuoka, Yasuhisa Matsui, Akihiko Okuyama, Yoshitake Nishimune, Hiromitsu Tanaka

Research output: Contribution to journalArticlepeer-review

38 Citations (Scopus)

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 proven-fertile 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.

Original languageEnglish
Pages (from-to)426-431
Number of pages6
JournalJournal of Andrology
Volume30
Issue number4
DOIs
Publication statusPublished - 2009 Jul

Keywords

  • Genome
  • Male infertility
  • SNPs
  • Sperm
  • Spermatogenesis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Reproductive Medicine
  • Endocrinology
  • Urology

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