The precise temporal and spatial expressions of specific transcription regulation factors (TRF) have long been considered essential for spermatogenesis. We report for the first time that most of the alterations are not associated with gonadal dysfunction, while the sequence variant in exon 13 may represent a risk factor for spermatogenic failure.
The information of related literatures
1. K. Stouffs, A. Willems, W. Lissens, H. Tournaye, A. Van Steirteghem and I. Liebaers (2006) The role of the testis-specific gene hTAF7L in the aetiology of male infertility. Mol Hum Reprod 12(4): 263-7.
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. PMID: [16597641]
2. O. Akinloye, J. Gromoll, C. Callies, E. Nieschlag and M. Simoni (2007) Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure. Andrologia 39(5): 190-5.
Abstract The precise temporal and spatial expressions of specific transcription regulation factors (TRF) have long been considered essential for spermatogenesis. Recently, it has been speculated that mammals have evolved more specialised TRF genes. In the human, the TAF7L gene may be essential for maintenance of spermatogenesis. In this study, we investigated the possible role of the TAF7L gene located on the X chromosome in testicular function and spermatogenic failure. In a case-controlled retrospective study, we recruited 16 infertile males with consistent, nonobstructive azoospermia and with normal serum follicle-stimulating hormone (FSH) levels. Twenty age-matched men with normal spermatogenesis with the same ethnic background (Caucasian) were recruited as controls. Their genomic DNA was screened for sequence changes in the coding regions and part of the flanking introns of the TAF7L gene by direct sequencing. Amino acid sequence was compared with the NCBI standard sequence (BC043391). Semen analysis and hormone evaluation were performed. We observed six sequence variations in four patients, consisting of two point mutations, one each in exon 9 and 13 and one six-basepair deletion in exon 13 with concomitant changes in amino acid. One additional nucleotide exchange was observed in intron 8. Most of these changes were also found in eight controls with the exception of changes in exon 13. A meta-analysis including the present study and literature data suggests a possible association of the point mutation in exon 13 with infertility. There was no association or relationship with reproductive hormones. In conclusion, the sequence variants in the cDNA sequence observed are common polymorphisms. The changes in intron 8 appear novel. We report for the first time that most of the alterations are not associated with gonadal dysfunction, while the sequence variant in exon 13 may represent a risk factor for spermatogenic failure. PMID: [17714218]
Figures for illustrating the function of this protein/gene
Function
Probably functions as a spermatogensis-specificcomponent of the DNA-binding general transcription factor complexTFIID, a multimeric protein complex that plays a central role inmediating promoter responses to various activators and repressors.May play a role in spermatogenesis (By similarity).
Nucleus (By similarity). Cytoplasm (Bysimilarity). Note=Cytoplasmic in spermatogonia and earlyspermatocytes (preleptotene, leptotene, and zygotene);translocates into the nuclei of pachytene spermatocytes and roundspermatids (By similarity).
CHAIN 1 462 Transcription initiation factor TFIID subunit 7-like. /FTId=PRO_0000307861. COILED 342 462 Potential. COMPBIAS 336 377 Glu-rich. VAR_SEQ 1 86 Missing (in isoform 2 and isoform 3). /FTId=VSP_028847. VAR_SEQ 317 390 Missing (in isoform 3). /FTId=VSP_028848. VARIANT 34 34 L -> P (in dbSNP:rs5951328). /FTId=VAR_036695. VARIANT 61 61 E -> K. /FTId=VAR_036696. VARIANT 308 308 S -> G (in dbSNP:rs35899692). /FTId=VAR_036697. VARIANT 350 351 Missing. /FTId=VAR_036698. VARIANT 458 458 R -> H (in dbSNP:rs41310729). /FTId=VAR_036699. Back to Top