title: Single nucleotide polymorphisms: discovery of the genetic causes of male infertility.
abstract: We carried out single nucleotide polymorphism (SNP) and mutation analyses of haploid germ cell-specific genes. An analysis of 13 genes associated with male infertility in approximately 300 infertile male patients and approximately 300 male volunteers with proven fertility revealed two mutations that might produce male infertility, and three SNP/mutations associated with male infertility in 13 germ cell-specific genes. These findings strongly support the hypothesis that dysfunction of germ cell-specific genes causes idiopathic human male infertility.
authors.affiliation: TANAKA Project, Center for Advanced Science and Innovation, Osaka University, 3-1 Yamadaoka, Suita, Osaka 565-0871, Japan. tanaka@biken.osaka-u.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Tanaka
authors.forename: M
authors.initials: M
authors.lastname: Hirose
authors.forename: K
authors.initials: K
authors.lastname: Tokuhiro
authors.forename: Y
authors.initials: Y
authors.lastname: Matsuoka
authors.forename: Y
authors.initials: Y
authors.lastname: Miyagawa
authors.forename: A
authors.initials: A
authors.lastname: Tsujimura
authors.forename: A
authors.initials: A
authors.lastname: Okuyama
authors.forename: Y
authors.initials: Y
authors.lastname: Nishimune
mesh_terms: D004252:DNA Mutational Analysis; D005787:Gene Frequency; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D013091:Spermatogenesis / Q000235:genetics*