USP26 gene variations in fertile and infertile men

Ribarski, I.; Lehavi, Ofer; Yogev, Leah; Hauser, Ron; Maymon, Batia Bar-Shira; Botchan, Amnon; Paz, Gedalia; Yavetz, Haim; Kleiman, Sandra E.

doi:10.1093/humrep/den374

Cited by 33 publications

(41 citation statements)

References 24 publications

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“…Other novel variants such as 393A>T, 468 T>G, 520 T>G, 565 T>G, 2144A>T, 2182A>T, 2195 T>C, 2204 T>G, 2239A>T, 2247A>C, 2250A>G and 2271 T>C were also linked to impaired spermatogenesis. Recently, Ribarski et al, [110], reported high frequency (4.7 %) of 1090C>T mutations in infertile patients. Stouffs et al, [111] reported the presence of some mutations in USP26 gene such as 370-371insACA, 494 T>C and 1423C>T in patients (7.2 %) with SCOS.…”

Section: The Usp26 Gene Mutationsmentioning

confidence: 99%

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Tahmasbpour

Balasubramanian

Agarwal

2014

J Assist Reprod Genet

109

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Background The assisted reproductive techniques aimed to assist infertile couples have their own offspring carry significant risks of passing on molecular defects to next generations. Results Novel breakthroughs in gene and protein interactions have been achieved in the field of male infertility using genome-wide proteomics and transcriptomics technologies. Conclusion Male Infertility is a complex and multifactorial disorder.Significance This review provides a comprehensive, up-todate evaluation of the multifactorial factors involved in male infertility. These factors need to be first assessed and understood before we can successfully treat male infertility.

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Section: The Usp26 Gene Mutationsmentioning

confidence: 99%

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

Tahmasbpour

Balasubramanian

Agarwal

2014

J Assist Reprod Genet

109

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“…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%

“…Only men with normal semen analysis with history of RPL were enrolled. The mean age of the men was 34.38±4.52 [27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43] years.…”

Section: Study Subjectsmentioning

confidence: 99%

“…A mismatch in the forward primer was introduced for distinguishing between the normal allele and the mutant allele on position 1737 by restriction with FokI. The specific restriction enzymes and primers pair for each mutation were selected according to Ribarski et al;2009 [41] and are summarized in Table 1. Cloning and sequencing were performed for confirming PCR-SSCP analysis results.…”

Section: Study Subjectsmentioning

confidence: 99%

“…The coexistence of these three changes in a cluster might point to a specific X chromosome haplotype. Interestingly, in a publication on USP26, the authors identified additional compound mutation that included the 370-371insACA mutation and a new change (460G>A) in the USP26 gene that might cause spermatogenesis impairment in a small group of Chinese infertile oligozoospermic men [1,40,41]. Paduch et al (2005) [40] demonstrated two additional changes, 1090C>T and 1737G>A, with frequencies of 4.3 and 1.6 %, respectively, but they were not investigated in greater depth.…”

Section: Introductionmentioning

confidence: 99%

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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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Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient

Arafat

Zeadna

Levitas

et al. 2020

Molec Gen & Gen Med

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BackgroundUbiquitin‐Specific Peptidase 26 (USP26), located on the X chromosome, encodes a deubiquitinating enzyme expressed mainly in testis, where it regulates protein turnover during spermatogenesis and modulates the ubiquitination levels of the Androgen Receptor (AR), and as a consequence, affects AR signaling.MethodsThe patient was thoroughly characterized clinically. He was genetically tested by chromosome analysis and whole exome sequencing (WES).ResultsThe patient was diagnosed with Sertoli cell‐only syndrome pattern (SCOS). The WES analysis revealed only the variation in USP26: causing p.P469S in a highly evolutionary conserved amino acid as the possible cause for SCOS. The literature search identified 34 single variations and 14 clusters of variations in USP26 that were associated with male infertility. Only one of the 22 variations and of one cluster of three mutations tested for ubiquitination activity was found as damaging. Only one out of six variations tested for effect on AR function was found as damaging. Thus, the association of USP26 with male fertility was questioned.ConclusionsThe finding in our patient and the discussion on the reviewed literature support a possible role for USP26 in male fertility.

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USP26 gene variations in fertile and infertile men

Abstract: Mutation 1090C > T may be a new genetic risk factor for developing inguinal hernia which may be associated with impaired male fertility.

Cited by 33 publications

References 24 publications

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

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

Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient

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