Genetic Variation in the Testis-Specific HASPIN Gene Encoding a Serine/Threonine Protein Kinase in Infertile Japanese Males

Autor:	Hiromitsu Tanaka, Yoshitake Nishimune, Akira Tsujimura, Damin Choi, Hiromi Nishimura, Yasushi Miyagawa, Morimasa Wada, Dakyo Oh
Rok vydání:	2016
Předmět:	Nonsynonymous substitution Genetics Single-nucleotide polymorphism General Medicine Serine threonine protein kinase Biology medicine.disease Molecular biology Male infertility Genetic variation medicine Coding region Protein kinase A Gene
Zdroj:	Advances in Sexual Medicine. :19-25
ISSN:	2164-5205 2164-5191
DOI:	10.4236/asm.2016.63003
Popis:	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.
Databáze:	OpenAIRE
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