title: Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome.
abstract: Genetic mechanisms have been implicated as a cause of some cases of male  infertility. Recently, 10 novel genes involved in human spermatogenesis,  including human SEPTIN12, were identified by expression microarray  analysis of human testicular tissue. Septin12 is a member of the septin family  of conserved cytoskeletal GTPases that form heteropolymeric filamentous  structures in interphase cells. It is expressed specifically in the testis.  Therefore, we hypothesized that mutation or polymorphisms of SEPTIN12  participate in male infertility, especially Sertoli cell-only syndrome  (SCOS). To investigate whether SEPTIN12 gene defects are associated  with azoospermia caused by SCOS, mutational analysis was performed in 100  Japanese patients by direct sequencing of coding regions. Statistical analysis  was performed in patients with SCOS and in 140 healthy control men. No  mutations were found in SEPTIN12 ; however, 8 coding  single-nucleotide polymorphisms (SNP1-SNP8) could be detected in the  patients with SCOS. The genotype and allele frequencies in SNP3, SNP4, and  SNP6 were notably higher in the SCOS group than in the control group  (P < .001). These results suggest that SEPTIN12 might  play a critical role in human spermatogenesis.
authors.affiliation: Department of Obstetrics and Gynecology, School of Medicine, Asahikawa Medical University, Asahikawa, Japan.
authors.forename: Hiroe
authors.initials: H
authors.lastname: Miyakawa
authors.forename: Toshinobu
authors.initials: T
authors.lastname: Miyamoto
authors.forename: Eitetsu
authors.initials: E
authors.lastname: Koh
authors.forename: Akira
authors.initials: A
authors.lastname: Tsujimura
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Miyagawa
authors.forename: Yasuaki
authors.initials: Y
authors.lastname: Saijo
authors.forename: Mikio
authors.initials: M
authors.lastname: Namiki
authors.forename: Kazuo
authors.initials: K
authors.lastname: Sengoku
mesh_terms: D044466:Asian People / Q000235:genetics*; D053713:Azoospermia / Q000235:genetics; D001483:Base Sequence; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D058112:Septins / Q000235:genetics*; D054331:Sertoli Cell-Only Syndrome / Q000235:genetics* / Q000473:pathology
chemical_list: C502729:SEPTIN12 protein, human; D058112:Septins