Open AccessThe role of the testis-specific gene hTAF7L in the aetiology of male infertility
Author(s) -
Katrien Stouffs,
Ariane Willems,
Willy Lissens,
Herman Tournaye,
A. Van Steirteghem,
Ingeborg Liebaers
Publication year - 2006
Publication title -
molecular human reproduction
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.143
H-Index - 122
eISSN - 1460-2407
pISSN - 1360-9947
DOI - 10.1093/molehr/gal020
Subject(s) - biology , spermatogenesis , gene , male infertility , infertility , genetics , etiology , gene expression , point mutation , medicine , endocrinology , andrology , mutation , pregnancy
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.