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

doi:10.2164/jandrol.108.006262

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

Cell Resource Center for Biomedical Research

Research output: Contribution to journal › Article › peer-review

43 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 language	English
Pages (from-to)	426-431
Number of pages	6
Journal	Journal of Andrology
Volume	30
Issue number	4
DOIs	https://doi.org/10.2164/jandrol.108.006262
Publication status	Published - 2009 Jul

Keywords

Genome
Male infertility
SNPs
Sperm
Spermatogenesis

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Reproductive Medicine
Endocrinology
Urology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.2164/jandrol.108.006262

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

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.",

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AU - Irie, Shinji

AU - Tsujimura, Akira

AU - Miyagawa, Yasushi

AU - Ueda, Tomohiro

AU - Matsuoka, Yasuhiro

AU - Matsui, Yasuhisa

AU - Okuyama, Akihiko

AU - Nishimune, Yoshitake

AU - Tanaka, Hiromitsu

PY - 2009/7

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N2 - 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.

AB - 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.

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KW - SNPs

KW - Sperm

KW - Spermatogenesis

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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