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Mol. Hum. Reprod. Advance Access originally published online on April 5, 2006
Molecular Human Reproduction 2006 12(4):263-267; doi:10.1093/molehr/gal020
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

The role of the testis-specific gene hTAF7L in the aetiology of male infertility

K. Stouffs1, A. Willems, W. Lissens, H. Tournaye, A. Van Steirteghem and I. Liebaers

Research Centre for Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, Belgium

1 To whom correspondence should be addressed at: Research Centre for Reproduction and Genetics, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium. E-mail: katrien.stouffs{at}az.vub.ac.be

The X-linked TAF7L gene is homologous to the autosomal transcription factor TAF7. Together with its testis-specific expression pattern, this might point to an important function in spermatogenesis. In order to analyse the involvement of the hTAF7L gene in the aetiology of male infertility, a total of 25 patients with maturation arrest of spermatogenesis have been analysed for the presence of mutations in this gene. Four alterations of the nucleotide sequence, with concomitant changes in the amino acid sequence, have been observed in 12 patients. All sequence alterations were also found either in a control group consisting of men with proven fertility or in a control group with men with normal spermatogenesis. Therefore, these alterations are probably polymorphisms.

Key words: male infertility/mutations/TAF7L/X chromosome


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