Single-nucleotide polymorphisms of the PRDM9 (MEISETZ) gene in patients with nonobstructive azoospermia.
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.
Irie
Shinji
S
Life Science Research Laboratory, Technical Research Institute, Corporate Manufacturing, Technology and Research Division, Toppan Printing Co, Ltd, Tokyo, Japan.
Tsujimura
Akira
A
Miyagawa
Yasushi
Y
Ueda
Tomohiro
T
Matsuoka
Yasuhiro
Y
Matsui
Yasuhisa
Y
Okuyama
Akihiko
A
Nishimune
Yoshitake
Y
Tanaka
Hiromitsu
H
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
D011495:Histone-Lysine N-Methyltransferase; C544431:PRDM9 protein, human