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Published-Ahead-of-Print April 3, 2008, DOI:10.2164/jandrol.107.004598

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Mutation Screening and Association Study of the TSSK4 Gene in Chinese Infertile Men with Impaired Spermatogenesis

Dan Su , Wei Zhang , Yuan Yang , Ying Deng , Yongxin Ma , Hongxia Song , and Sizhong Zhang *

* To whom correspondence should be addressed. E-mail: szzhang{at}mcwcums.com.

Testis specific serine/threonine kinase (TSSK) family is a specific kinase group with exclusive or dominant expression in testis and involvement in spermatogenesis and male infertility. TSSK4 is a newly identified member of the TSSK family. In order to investigate the possible relations between variations including mutations and polymorphisms of the TSSK4 gene and impaired spermatogenesis in human, mutation screening of this gene in 372 patients with azoospermia or severe oligospermia and 220 controls was performed. Total four novel single nucleotide changes including c.679G>A, c.987+108G>A, c.-155C>G and c.765C>A were discovered and the latter two variations were found only in patients. Bioinformatics analysis suggested that the allele A of c.765C>A could decrease the activity of pre-mRNA splicing of the TSSK4. The frequency of allele A of c.679G>A was significantly higher in controls than that in patients. On the contrary, allele A of c.987+108G>A was remarkably increased in patients compared to controls. Our investigation on the TSSK4 in Chinese infertile patients and controls provided some suggestions of its potential role in male infertility.


Key words: Infertility • Reproductive Genetics • Spermatogenesis






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