TITLE:
Genetic Variation in the Testis-Specific HASPIN Gene Encoding a Serine/Threonine Protein Kinase in Infertile Japanese Males
AUTHORS:
Hiromitsu Tanaka, Akira Tsujimura, Yasushi Miyagawa, Dakyo Oh, Damin Choi, Morimasa Wada, Hiromi Nishimura, Yoshitake Nishimune
KEYWORDS:
Single-Nucleotide Polymorphism, Spermatogenesis, Meiosis, Sperm, Nucleus, HASPIN Gene
JOURNAL NAME:
Advances in Sexual Medicine,
Vol.6 No.3,
July
13,
2016
ABSTRACT: HASPIN is a serine/threonine protein kinase predominantly expressed during spermatogenesis and localized in the nucleus. The HASPIN gene is conserved from yeast to mammals and plants. To investigate any possible associations between HASPIN polymorphisms and impaired spermatogenesis in Japanese males, we screened for mutations in the HASPIN coding sequence (CDS) using DNA from 282 sterile male patients and 262 fertile male volunteers. Polymorphisms were found at 10 positions within the HASPIN CDS. Among these 10 polymorphisms, 5 were found only in the infertile group, 3 of which were nonsynonymous. These polymorphisms found only in the infertile patients may be a cause of male infertility and thus valuable candidates for further study of this condition.