• PMID: 15579655
• Gene Name: SLC26A8
• Condition: Male infertility, Primary spermatogenic failure
• Association: Not Associated
• Population size: 83
• Population details: 83 male infertility patients
• Sex: Male
• Infertility type: Male infertility
• Associated genes: SLC26A8
• Other associated phenotypes: Male infertility, Primary spermatogenic failure

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

Mäkelä S, Eklund R, Lähdetie J, Mikkola M, Hovatta O, Kere J.

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. FAU - Mäkelä, S AU - Mäkelä S AD - Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, FIN-00014 Helsinki, Finland. FAU - Eklund, R AU - Eklund R FAU - Lähdetie, J AU - Lähdetie J FAU - Mikkola, M AU - Mikkola M FAU - Hovatta, O AU - Hovatta O