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Mol. Hum. Reprod. Advance Access originally published online on December 3, 2004
Molecular Human Reproduction 2005 11(2):129-132; doi:10.1093/molehr/gah140
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Molecular Human Reproduction vol. 11 no. 2 © European Society of Human Reproduction and Embryology 2004; all rights reserved

Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure

S. Mäkelä1,7, R. Eklund1, J. Lähdetie2,3, M. Mikkola4, O. Hovatta5 and J. Kere1,6

1Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, FIN-00014 Helsinki, 2Rinnekoti Foundation, FIN-02980 Espoo, 3Department of Medical Genetics, University of Turku, FIN-20520 Turku and 4Program of Developmental and Reproductive Biology, Biomedicum Helsinki, University of Helsinki, FIN-00014 Helsinki, Finland, 5Department of Clinical Science, Karolinska Institutet, Karolinska Universitetssjukhuset Huddinge, SE-141 86 and 6Department of Biosciences at Novum and Clinical Research Center, Karolinska Institute, Stockholm, Sweden

7 To whom correspondence should be addressed at: Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, FIN-00014 Helsinki, Finland

SLC26A8 is an anion transporter that is solely expressed in the testes. It interacts with MgcRacGAP that shows strong structural similarity with the Drosophila protein RotundRacGAP, which is established to have an essential role for male fertility in the fruit fly. To explore whether the SLC26A8 gene has a role in human male infertility, we performed mutational analysis in the coding region of the SLC26A8 gene in 83 male infertility patients and two groups of controls using single-strand conformational polymorphism and direct sequencing methods. We found six novel coding sequence variations, of which five lead to amino acid substitutions. All variants were found with similar frequencies in both patients and controls, thus suggesting that none of them may be causally associated with infertility. We conclude that the SLC26A8 mutations are not a common cause of male infertility.

Key words: polymorphism/SLC26 gene family/spermatogenesis/TAT1


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