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

Stouffs, Katrien; Willems, Ariane; Lissens, Willy; Tournaye, Herman; Steirteghem, A. Van; Liebaers, Ingeborg

doi:10.1093/molehr/gal020

Cited by 34 publications

(37 citation statements)

References 6 publications

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“…Thus, it has been speculated that the human TAF7L gene may be essential for the maintenance of spermatogenesis (137). However, sequence analysis of infertile patients and controls revealed no clear association to male infertility (108,138).…”

Section: Taf7lmentioning

confidence: 94%

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

Röpke

Tüttelmann

2017

European Journal of Endocrinology

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Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo-or a-zoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistent with Ohno's law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno's law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis. Therefore, it is not surprising that the X chromosome, considered as the female counterpart of the maleassociated Y chromosome, may actually play an essential role in male infertility and sperm production. This is supported by the recent description of a significantly increased copy number variation (CNV) burden on both sex chromosomes in infertile men and point mutations in X-chromosomal genes responsible for male infertility. Thus, the X chromosome seems to be frequently affected in infertile male patients. Four principal X-chromosomal aberrations have been identified so far: (1) aneuploidy of the X chromosome as found in Klinefelter syndrome (47,XXY or mosaicism for additional X chromosomes). (2) Translocations involving the X chromosome, e.g. nonsyndromic 46,XX testicular disorders of sex development (XX-male syndrome) or X-autosome translocations. (3) CNVs affecting the X chromosome. (4) Point mutations disrupting X-chromosomal genes. All these are reviewed herein and assessed concerning their importance for the clinical routine diagnostic workup of the infertile male as well as their potential to shape research on spermatogenic failure in the next years.

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Section: Taf7lmentioning

confidence: 94%

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

Röpke

Tüttelmann

2017

European Journal of Endocrinology

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“…Mutation screening of TAF7L in 25 men with non-obstructive azoospermia did not reveal mutations that are associated with infertility (Stouffs et al 2006b). Two studies indicated that a haplotype in USP26 (371insACA, 494T9C and 1423C9T) might be a risk factor for male infertility (Paduch et al 2005, Stouffs et al 2005.…”

Section: Implications Of X-linked Meiosis Factorsmentioning

confidence: 98%

“…In several genetic studies, two X-linked germ cellspecific genes (TAF7L and USP26) were screened for mutations in infertile men (Paduch et al 2005, Stouffs et al 2005, 2006b. Mutation screening of TAF7L in 25 men with non-obstructive azoospermia did not reveal mutations that are associated with infertility (Stouffs et al 2006b).…”

Section: Implications Of X-linked Meiosis Factorsmentioning

confidence: 99%

The role of spermatogonially expressed germ cell-specific genes in mammalian meiosis

Wang

Pan

2007

Chromosome Res

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Meiosis, a hallmark of sexual reproduction, reduces the chromatin complement by half to cope with genome doubling at fertilization and permits exchange of genetic material between parental genomes. Recent functional studies of novel proteins have greatly enhanced our understanding of the regulation of meiosis. The unique status of sex chromosomes in the male germ line may have shaped their content of germ line-intrinsic genes during evolution. Previously, a unique set of 36 spermatogonially expressed, mouse germ cell-specific genes was identified in one genomic screen. Thirteen of these genes have been disrupted in mice and two-thirds of these mouse mutants exhibit meiotic defects. Therefore, we hypothesize that the majority of uncharacterized germ cellspecific genes identified in the same screen, including 11 X-linked genes, might also play important roles in meiosis. In particular, we cite previously unpublished studies demonstrating that the NXF2 protein, an X-encoded factor, is present in early spermatocytes.

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“…In addition to Y chromosome microdeletion and mutation of autosome genes, X chromosomes are also closely related to male fertility; however, the underlying molecular mechanisms are still unknown [3,5]. There has been an intensive search in such genes located on the X chromosome as men are hemizygous for this chromosome [6,7]. Nishimune et al [8] observed many genes on the X chromosome that are related to male infertility.…”

Section: Introductionmentioning

confidence: 99%

Ubiquitin-specific protease (USP26) gene alterations associated with male infertility and recurrent pregnancy loss (RPL) in Iranian infertile patients

Totonchi

Sabbaghian

et al. 2013

J Assist Reprod Genet

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Background and purpose The human X chromosome is enriched with testis-specific genes that may be crucial for male fertility. Mutations in USP26 gene have been proposed to be associated with male infertility. Moreover, the importance of the ubiquitin pathway during different stages of mammalian fertilization and even embryo development has been addressed. Some mutations and haplotypes on this gene have been proposed to be associated with male infertility. In this study, five different mutations on USP26 were investigated: 1737 G>A, 1090 C >T, 370-371ins ACA, 494 T>C and 1423 C>T. Methods The study included 166 infertile men with nonobstructive azoospermia, 72 male partners of couples who had previously experienced ≥3 clinical first trimester spontaneous abortions and 60 fertile men. Besides family history of reproduction, hormonal evaluation and semen analysis were performed. DNA was extracted from blood samples. PCR-SSCP, PCR-RFLP and PCR Product Cloning methods were used and resumed by sequencing to insure about the mutations. Moreover, USP26 gene expression was studied by Real-Time PCR after RNA extraction followed by cDNA synthesis from 24 testis biopsies in obstructive and non-obstructive azoospermia patients.Results The results indicate that there is a haplotype between three observed mutations in Iranian population include: 370-371insACA, 1423C>T and 494 T>C. This haplotype was seen in control group as well. Surprisingly, total frequency of mutations in men with history of idiopathic RPL and azoospermic cases were significantly higher than that of in control groups (p<0.05). Serum testosterone concentrations and testicular volume did not differ in the mutation positive group compared with the non-mutation group. About the USP26 gene expression, there is a significant difference between the expression levels of obstructive azoospermia, complete maturation arrest samples and SCO samples (P<0.05). Conclusions According to our results, the USP26 gene may play an important role in male reproduction. The alterations of this gene may be involved in male infertility and RPL in Iranian population and may negatively affect testicular function. Keywords Polymorphism . Male infertility . USP26Capsule In recent years, a lot of attention has been paid to genetic causes of male infertility. Moreover altered gene expression in spermatogenesis has been showed. Studies are mainly focusing on genes with a testis-specific expression pattern. Such genes which located on the sex chromosomes seem to be more important as men are hemizygous for these chromosomes. We analyzed the Ubiquitin Specific Protease 26 (USP26) gene for the presence of mutations in men with severe fertility problems.

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

Cited by 34 publications

References 6 publications

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility

The role of spermatogonially expressed germ cell-specific genes in mammalian meiosis

Ubiquitin-specific protease (USP26) gene alterations associated with male infertility and recurrent pregnancy loss (RPL) in Iranian infertile patients

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