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

K Stouffs, Ariane Willems, W Lissens, H Tournaye, A Van Steirteghem, I Liebaers

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)263-267
Number of pages5
JournalMolecular Human Reproduction
Issue number4
Publication statusPublished - Apr 2006


  • amino acid sequence
  • animals
  • base sequence
  • DNA mutational analysis
  • X-linked genes
  • humans
  • male infertility
  • male
  • mice
  • molecular sequence data
  • mutation
  • oligospermia
  • polymerase chain reaction
  • amino acid sequence homology
  • spermatogenesis
  • TATA-binding protein associated factors
  • testis
  • transcription factor TFIID
  • TAF7L


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