Journal of Andrology Download to Citation Manager
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Published-Ahead-of-Print April 3, 2008, DOI:10.2164/jandrol.107.004598
Journal of Andrology, Vol. 29, No. 4, July/August 2008
Copyright © American Society of Andrology
DOI: 10.2164/jandrol.107.004598

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
29/4/374    most recent
Author Manuscript (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Su, D.
Right arrow Articles by Zhang, S.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Su, D.
Right arrow Articles by Zhang, S.

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

DAN SU*,{dagger}, WEI ZHANG*,{dagger}, YUAN YANG*, YING DENG*, YONGXIN MA*, HONGXIA SONG* AND SIZHONG ZHANG*

From the * Department of Medical Genetics, West China Hospital, Sichuan University and the Division of Human Morbid Genomics, State Key Laboratory of Biotherapy, Chengdu, China.

Correspondence to: Dr Sizhong Zhang, Professor, Department of Medical Genetics, West China Hospital, Sichuan University, Renmin Nanlu, Section 3 #17 Chengdu, 610041, China (e-mail: szzhang{at}mcwcums.com).


The 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 relationships between variations, including mutations and polymorphisms of the TSSK4 gene and impaired spermatogenesis in humans, mutation screening of this gene in 372 patients with azoospermia or severe oligospermia and 220 controls was performed. In total, 4 novel single nucleotide changes including c.679G>A, c.987+108G>A, c.-155C>G and c.765C>A were discovered. The latter 2 variations were found only in patients, not in controls. Bioinformatics analysis suggested that allele A of c.765C>A could decrease the activity of pre-mRNA splicing of TSSK4. The frequency of allele A of c.679G>A was significantly higher in controls than in patients. On the contrary, allele A of c.987+108G>A was remarkably increased in patients compared with controls. Our investigation of TSSK4, a potentially important testicular gene, in Chinese infertile and control men identified the association of some single nucleotide polymorphisms in this gene with male infertility.

     Key words: Male infertility, single nucleotide polymorphism






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2008 by The American Society of Andrology.