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.
authors.affiliation: Life Science Research Laboratory, Technical Research Institute, Corporate Manufacturing, Technology and Research Division, Toppan Printing Co, Ltd, Tokyo, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Irie
authors.forename: Akira
authors.initials: A
authors.lastname: Tsujimura
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Miyagawa
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Ueda
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Matsuoka
authors.forename: Yasuhisa
authors.initials: Y
authors.lastname: Matsui
authors.forename: Akihiko
authors.initials: A
authors.lastname: Okuyama
authors.forename: Yoshitake
authors.initials: Y
authors.lastname: Nishimune
authors.forename: Hiromitsu
authors.initials: H
authors.lastname: Tanaka
mesh_terms: D000595:Amino Acid Sequence; D053713:Azoospermia / Q000235:genetics*; D001483:Base Sequence; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide
chemical_list: D011495:Histone-Lysine N-Methyltransferase; C544431:PRDM9 protein, human