title: The role of the testis-specific gene hTAF7L in the aetiology of male infertility.
abstract: 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.
authors.affiliation: Research Centre for Reproduction and Genetics, Vrije Universiteit Brussel, Belgium. katrien.stouffs@az.vub.ac.be
authors.forename: K
authors.initials: K
authors.lastname: Stouffs
authors.forename: A
authors.initials: A
authors.lastname: Willems
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: H
authors.initials: H
authors.lastname: Tournaye
authors.forename: A
authors.initials: A
authors.lastname: Van Steirteghem
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D004252:DNA Mutational Analysis; D050172:Genes, X-Linked / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009845:Oligospermia / Q000235:genetics / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid; D013091:Spermatogenesis / Q000235:genetics / Q000502:physiology; D035381:TATA-Binding Protein Associated Factors / Q000235:genetics / Q000502:physiology*; D013737:Testis / Q000378:metabolism*; D035362:Transcription Factor TFIID / Q000235:genetics / Q000502:physiology*
chemical_list: C091537:TAF7 protein, human; D035381:TATA-Binding Protein Associated Factors; D035362:Transcription Factor TFIID