Genetic Variation in the Testis-Specific HASPIN Gene Encoding a Serine/Threonine Protein Kinase in Infertile Japanese Males
Genetic Variation in the Testis-Specific HASPIN Gene Encoding a Serine/Threonine Protein Kinase in Infertile Japanese Males作者机构：Lab of Molecular Biology Faculty of Pharmaceutical Sciences Nagasaki International University Sasebo Japan Department of Urology Graduate School of Medicine Juntendo University Tokyo Japan Department of Urology Graduate School of Medicine Osaka University Suita Japan Department of Science for Laboratory Animal Experimentation Research Institute for Microbial Diseases Osaka University Suita Japan
出 版 物：《Advances in Sexual Medicine》 (性医学进展（英文）)
年 卷 期：2016年第6卷第3期
页 面：19-25页
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
主 题：Single-Nucleotide Polymorphism Spermatogenesis Meiosis Sperm Nucleus HASPIN Gene
摘 要：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.
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