Sequence analysis of the X-linked USP26 gene in severe male factor infertility patients and fertile controls

Christensen, Greg L.; Griffin, James B.; Carrell, Douglas T.

doi:10.1016/j.fertnstert.2007.06.096

Cited by 19 publications

(24 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…These results are in agreement with reports that mutations in the Usp26 gene may be associated with male infertility and could negatively affect testicular function [9][10][11][12].…”

Section: Introductionsupporting

confidence: 93%

The expression of Usp26 gene in mouse testis and brain

Zhang¹,

Tian²,

Huo³

et al. 2009

Asian J Androl

View full text Add to dashboard Cite

Deubiquitinating enzymes (DUBs) play an important role in ubiquitin-dependent processes as negative regulators of protein ubiquitination. Ubiquitin-specific protease 26 (USP26) is a member of this family. The expression of Usp26 in mammalian testis and in other tissues has yet to be fully elucidated. To study the expression of Usp26 mRNA and protein in various murine tissues, reverse transcription (RT)-PCR and immunohistochemistry analyses were carried out. The RT-PCR analysis showed that the Usp26 transcript was expressed in all of the tested tissues. USP26 protein localization was examined by immunohistochemistry, and it was shown that USP26 was not detectable at 20 days postpartum, with the expression restricted to the cytoplasm of condensing spermatids (steps 9-16), Leydig cells and nerve fibers in the brain. In addition, the USP26 protein was detected at moderate levels in myocardial cells, the corpus of epidydimis, epithelium of the renal tubules and the seminal gland of postnatal day 35 mice. Its spatial and temporal expression pattern suggests that Usp26 may play an important role in development or function of the testis and brain. Further research into these possibilities is in progress.

show abstract

“…These results are in agreement with reports that mutations in the Usp26 gene may be associated with male infertility and could negatively affect testicular function [9][10][11][12].…”

Section: Introductionsupporting

confidence: 93%

The expression of Usp26 gene in mouse testis and brain

Zhang¹,

Tian²,

Huo³

et al. 2009

Asian J Androl

View full text Add to dashboard Cite

show abstract

“…Because AR signaling is essential for these processes, we investigated whether four described USP26 mutations from patients with fertility defects might affect signaling in any way. We did not measure any significant differences in any of our assays, which supports claims that changes in the USP26 gene are not restricted to infertile men and therefore cannot be causally involved (34,35,(46)(47)(48)(49)(50)(51). Interestingly, one of the mutants, 1037T-A, introduces a leucine to histidine amino acid change in the L3 NR interaction motif, which is highly important for AR binding, ubiquitination, and signaling activity.…”

Section: Discussionsupporting

confidence: 74%

“…USP26 is one candidate gene whose possible involvement in spermatogenesis and testicular development has been discussed in several articles (34,35,(47)(48)(49)(50)(51). Because AR signaling is essential for these processes, we investigated whether four described USP26 mutations from patients with fertility defects might affect signaling in any way.…”

Section: Discussionmentioning

confidence: 99%

The Deubiquitinating Enzyme USP26 Is a Regulator of Androgen Receptor Signaling

Dirac

Bernards

2010

Molecular Cancer Research

View full text Add to dashboard Cite

The androgen receptor (AR) is a member of the nuclear receptor superfamily and is essential for male sexual development and maturation, as well as prostate cancer development. Regulation of AR signaling activity depends on several posttranslational modifications, one of these being ubiquitination. We screened a short hairpin library targeting members of the deubiquitination enzyme family and identified the X-linked deubiquitination enzyme USP26 as a novel regulator of AR signaling. USP26 is a nuclear protein that binds to AR via three important nuclear receptor interaction motifs, and modulates AR ubiquitination, consequently influencing AR activity and stability. Our data suggest that USP26 assembles with AR and other cofactors in subnuclear foci, and serves to counteract hormone-induced AR ubiquitination, thereby contributing to the regulation of AR transcriptional activity. Mol Cancer Res; 8(6); 844-54. ©2010 AACR.

show abstract

“…The human X chromosome is enriched with testis-specific genes that may be crucial for male fertility [9]. One of them is USP26 and several papers have described the role of its mutations in male infertility [6,13,15,40,41]. It is a deubiquitinating enzyme and plays an important role in a wide variety of cellular processes such as the ones described before [13,44,45].…”

Section: Discussionmentioning

confidence: 99%

“…Deubiquitination of macromolecules by DUB, including ubiquitin proteases, can rescue macromolecules from degradation through substrate-specific, Nterminal dependent, enzymatic reaction [12]. During spermatogenesis, these enzymes might be involved in processes such as the removal of histones, regulation of protein turnover during meiosis, germ cell apoptosis, mitotic proliferation and differentiation of spermatogonial stem cells [13][14][15][16][17][18][19]. USP26 consists of a single exon and is located on Xq26.2.…”

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

View full text Add to dashboard Cite

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.

show abstract

Sequence analysis of the X-linked USP26 gene in severe male factor infertility patients and fertile controls

Cited by 19 publications

References 7 publications

The expression of Usp26 gene in mouse testis and brain

The expression of Usp26 gene in mouse testis and brain

The Deubiquitinating Enzyme USP26 Is a Regulator of Androgen Receptor Signaling

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

Contact Info

Product

Resources

About