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

doi:10.1093/molehr/gal020

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

Medical Sciences

Research output: Contribution to journal › Article › peer-review

29 Citations (Scopus)

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.

Original language	English
Pages (from-to)	263-267
Number of pages	5
Journal	Molecular Human Reproduction
Volume	12
Issue number	4
DOIs	https://doi.org/10.1093/molehr/gal020
Publication status	Published - Apr 2006

Keywords

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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10.1093/molehr/gal020

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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.",

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author = "K Stouffs and Ariane Willems and W Lissens and H Tournaye and {Van Steirteghem}, A and I Liebaers",

year = "2006",

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doi = "10.1093/molehr/gal020",

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T1 - The role of the testis-specific gene hTAF7L in the aetiology of male infertility

AU - Stouffs, K

AU - Willems, Ariane

AU - Lissens, W

AU - Tournaye, H

AU - Van Steirteghem, A

AU - Liebaers, I

PY - 2006/4

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N2 - 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.

AB - 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.

KW - amino acid sequence

KW - animals

KW - base sequence

KW - DNA mutational analysis

KW - X-linked genes

KW - humans

KW - male infertility

KW - male

KW - mice

KW - molecular sequence data

KW - mutation

KW - oligospermia

KW - polymerase chain reaction

KW - amino acid sequence homology

KW - spermatogenesis

KW - TATA-binding protein associated factors

KW - testis

KW - transcription factor TFIID

KW - TAF7L

U2 - 10.1093/molehr/gal020

DO - 10.1093/molehr/gal020

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EP - 267

JO - Molecular Human Reproduction

JF - Molecular Human Reproduction

IS - 4

ER -

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

Abstract

Keywords

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