Miyakawa Hiroe, Miyamoto Toshinobu, Koh Eitetsu, Tsujimura Akira, Miyagawa Yasushi, Saijo Yasuaki, Namiki Mikio, Sengoku Kazuo
Department of Obstetrics and Gynecology, School of Medicine, Asahikawa Medical University, Asahikawa, Japan.
J Androl. 2012 May-Jun;33(3):483-7. doi: 10.2164/jandrol.110.012146. Epub 2011 Jun 2.
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.
遗传机制被认为是某些男性不育病例的病因。最近，通过对人类睾丸组织进行表达微阵列分析，鉴定出10个参与人类精子发生的新基因，包括人类SEPTIN12。Septin12是保守的细胞骨架GTP酶septin家族的成员，在间期细胞中形成异聚丝状结构。它在睾丸中特异性表达。因此，我们推测SEPTIN12的突变或多态性参与男性不育，尤其是唯支持细胞综合征（SCOS）。为了研究SEPTIN12基因缺陷是否与SCOS引起的无精子症有关，对100名日本患者的编码区进行直接测序，进行突变分析。对SCOS患者和140名健康对照男性进行了统计分析。在SEPTIN12中未发现突变；然而，在SCOS患者中可以检测到8个编码单核苷酸多态性（SNP1-SNP8）。SCOS组中SNP3、SNP4和SNP6的基因型和等位基因频率明显高于对照组（P < .001）。这些结果表明，SEPTIN12可能在人类精子发生中起关键作用。
