Polymorphisms of sperm protamine genes and CMA3 staining in infertile men with varicocele

Nayeri, Maryam; Talebi, Ali Reza; Heidari, Mohammad; Seifati, Seyed Morteza; Tabibnejad, Nasim

doi:10.1016/j.androl.2018.07.005

Cited by 9 publications

(6 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In accordance with the presence of both mutations in the specific regulatory areas, determining a possible relationship between their existence and male infertility needs more investigation through the functional analysis using the mice model. On the other hand, both variations were detected in the heterozygote state that was consistent with previously published articles that reported variations of heterozygous state (Iguchi et al, 2006;Nayeri et al, 2020;Ravel et al, 2007). Furthermore, despite the heterozygous state of the detected variations, they still showed complications, which these effects are perhaps due to the haploinsufficiency.…”

Section: Ta B L Esupporting

confidence: 90%

Identification of thePRM1gene mutations in oligoasthenoteratozoospermic men

et al. 2020

View full text Add to dashboard Cite

Mutations or altered expression of PRM1 gene have been associated with male infertility. This study aimed to analyse pathogenic variations of PRM1 gene in Iranian Arab infertile men with oligoasthenoteratozoospermia that was carried out for the first time in this population. Genomic DNA was used to perform PCR sequencing in PRM1 untranslated regions, exons and intron. Also, bioinformatics analysis was recruited to discover the possible effect of detected variations. Two pathogenic variations were seen in two men with oligoasthenoteratozoospermia, which were not found in the control group. The cDNA.384G>C variation is novel and was located in the 3′ untranslated region, and cDNA.42G>A variation is reported for the first time related to male infertility and was found in 5′ untranslated regions. Bioinformatics analysis showed that the minimum free energy was increased from −19.9kcal/mol to −13.1kcal/mol due to the cDNA.384G>C variation at hsa‐miR‐4326's seed site. More analysis revealed cDNA.42G>A located in transcription factors binding site, E1 and MYOD, which was detected as a promoter‐associated region, and generally have regulatory features for acetylation and methylation. In conclusion, two pathogenic variations were recognised in regulatory areas of PRM1 gene, which might interfere with some critical factors related to PRM1 gene expression, hence cause male infertility.

show abstract

Section: Ta B L Esupporting

confidence: 90%

Identification of thePRM1gene mutations in oligoasthenoteratozoospermic men

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Bahreinian et al (2015) observed in infertile men an increased percentage of spermatozoa presenting low protamination. Protamine deficiency in men with varicocele is associated with changes in protamine genes (PRM1 and PRM2) (Nayeri et al, 2020). Here, the varicocelized‐non‐treated rats (VR group) showed spermatozoa with low protamination levels.…”

Section: Discussionmentioning

confidence: 99%

Resveratrol benefits on sperm DNA, chromatin structure and reproductive outcomes of varicocelized rats

et al. 2022

View full text Add to dashboard Cite

In varicocele, the main cause of sperm DNA damage is oxidative stress (OS).Resveratrol, a polyphenol with antioxidant properties, can protect cells from injuries caused by OS. We investigated the benefits of resveratrol against reproductive damage caused by experimental varicocele induced from peripuberty. Eighty peripubertal male rats were distributed into 4 groups: sham-control (S), varicocele (V), resveratrol (R) and varicocele treated with resveratrol (VR). Varicocele was induced through the partial ligature of the left renal vein. Resveratrol was given in a daily dose of 300 mg/ kg body weight (gavage). Sperm samples were collected at 100 days of age for vitality, DNA fragmentation and chromatin protamination evaluations. OS analyses were carried out. Rats from all groups were mated with healthy primiparous females for evaluation of reproductive capacity and embryonic quality. The V group showed reduction of sperm vitality, altered chromatin protamination and sperm DNA integrity and high levels of OS. The VR group showed an improvement of oxidative status, sperm vitality, DNA integrity and chromatin structure, and an enhancement in the gestational index and embryonic quality. Therefore, we showed in this experimental model that resveratrol is a promising nutraceutical adjuvant and should be deeply studied to mitigate subfertility in varicocele.

show abstract

“…Recent studies showed a significant relationship between male infertility and reduced TP2 gene expressions (28, 29). During spermiogenesis, sperm nucleus are compacted, and for this reason, chromatin must be changed by the replacement of the common histones with PRMs (which are derived from histone H1) and TNPs (30, 31). Since nucleotide changes in the genes that code these nuclear proteins lead to male infertility in mice, it suggests that the replacement of the common histones with these nuclear proteins is the most important event during spermiogenesis (5).…”

Section: Discussionmentioning

confidence: 99%

The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study

Heidari

Danafar

Moezzi

et al. 2019

IJRM

View full text Add to dashboard Cite

Background: Numerous researches have provided great evidence that revealed the relationship between varicocele and sperm DNA damage. Objective: Because of the crucial role of nuclear transition proteins (TPs) in sperm DNA condensation and integrity, this case-control study was designed to study TNP2 gene nucleotide variations in Iranian patients with varicocele. Materials and Methods: PCR-SSCP and DNA sequencing were used to search for mutations in exons 1 & 2 of the TNP2 gene in 156 infertile patients with varicocele and 150 fertile men. Results: The results of sequencing showed three variants at positions c.301C > T (p.R101C), c.391C > T (p.R131 W), and g.IVS1-26G >C (rs8043625) of TNP2 gene. It was found that varicocele risk in men who have the CC genotype of g.IVS1-26G >C SNP is higher than those who don’t have these genotypes (according to Co-dominant model, Dominant model, Recessive model, and Over-dominant model). The haplotype-based analysis showed that (C/C/T) and (C/T/T) haplotypes were a risk factor of in patients with varicocele compared to controls (OR = 3.278, p = 0.000 and OR= 9.304, p = 0.038, respectively). Conclusion: Because of the significant difference in the genotype and allele frequencies of g.IVS1-26G >C SNP in the intronic region of TNP2 in patients with varicocele compared with controls and also because of the high conservation of this SNP position during evolution, this SNP may be involved in some important processes associated with the expression of this gene like mRNA splicing, but the exact mechanism is not clear.

show abstract

Polymorphisms of sperm protamine genes and CMA3 staining in infertile men with varicocele

Cited by 9 publications

References 27 publications

Identification of thePRM1gene mutations in oligoasthenoteratozoospermic men

Identification of thePRM1gene mutations in oligoasthenoteratozoospermic men

Resveratrol benefits on sperm DNA, chromatin structure and reproductive outcomes of varicocelized rats

The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study

Contact Info

Product

Resources

About