Journal of Andrology Testis Workshop 2009
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Published-Ahead-of-Print November 19, 2009
Journal of Andrology 2009, DOI:10.2164/jandrol.109.008466

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Some Single Nucleotide Polymorphisms of the TSSK2 Gene May Be Associated with Human Spermatogenesis Impairment

Hao Zhang , Dan Su , Yuan Yang , Wei Zhang , Yunqiang Liu , Gang Bai , Mingyi Ma , Yongxin Ma , and Sizhong Zhang *

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

Tssk2, a member of the testis specific serine/threonine kinase (TSSK) family, is expressed predominantly in the testis and crucial for the formation and function of the sperm cells in mouse. Targeted deletion of Tssk1 and 2 in male chimeric mice caused infertility due to haploinsufficiency of the genes. Therefore it is reasonable to postulate that mutations in its human homologue TSSK2 gene may also play a role in impaired spermatogenesis in humans. To explore the possible association between mutations in the TSSK2 gene and idiopathic infertility in human, mutation screening of the gene in 494 patients with azoospermia or severe oligozoospermia and 357 fertile controls was performed by DHPLC and DNA sequencing. As a result, four single nucleotide transitions were identified, including c.80 A>G(rs3747052), c.774 C>T(rs1052756), c.839 C>T(rs1052763), c.1026 G>A(rs1052773). Among them, significant differences in polymorphism frequencies were observed of c.80 A>G (rs3747052) and c.774 C>T (rs1052756) between the patients and controls, the allele G of c.80 A>G (rs3747052) and allele T of c.774 C>T (rs1052756) seem to be risk factors for the development of spermatogenic impairment, suggesting that the TSSK2 gene may be associated with male idiopathic infertility in humans.


Key words: TSSK gene • male infertility • single nucleotide polymorphism






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