The Open Andrology Journal

2013, 5 : 1-5
Published online 2013 August 07. DOI: 10.2174/1876827X01305010001
Publisher ID: TOANDROJ-5-1

Nucleotide Polymorphism Analysis of Testis-specific CETN1 in Human Male Infertility

Hiromitsu Tanaka , Akira Tsujimura , Yasushi Miyagawa , Yuuki Kohama , Yuko Aramaki , Yoshino Araki , Morimasa Wada and Yoshitake Nishimune
Faculty of Pharmaceutical Sciences, Nagasaki International University, Sasebo, Nagasaki, 859-3298, Japan.

ABSTRACT

Centrin1 (CETN1) is a member of the EF-hand superfamily of calcium-binding proteins that localizes to centrosomes and regulates cytokinesis. Four centrin genes have been reported in mice, of which one, CETN1, is specifically expressed in the mouse testis. Computer-assisted analysis showed that CETN1 was predominantly expressed in the testis. In this study, human CETN1, CETN2, and CETN3 mRNAs from various organs were subjected to reverse transcription polymerase chain reaction (RT-PCR) analysis. CETN1 was specifically detected only in the testis. Next, we identified polymorphisms of human CETN1 (centrin1) as a candidate gene in human male infertility. To investigate the possible association between CETN1 and male infertility, DNA from 282 infertile male patients and 96 male volunteers proven to be fertile was screened for mutations in CETN1. Ten polymorphisms were found in the open reading frame and the 3' untranslated region of CETN1. These data provide a basis for further large-scale genetic analysis of the association between genetic background and male infertility.

Keywords:

Sperm, centrin, testis.