Sequencing of the<i>ZMYND15</i>gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia

Wen, Yuting; Wang, Xiang; Zheng, Rui; Dai, Siyu; Li, Jinhui; Yang, Yihong; Shen, Ying

doi:10.1136/jmg-2022-108727

Cited by 4 publications

(4 citation statements)

References 31 publications

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“…10,46 Previous studies have proved that ZMYND15 mediates spermatogenesis by interacting with DPY19L2, AKAP4, and FSIP2 and regulating the expression of SPATA33. 9 Therefore, we speculated that sodium arsenite downregulates Spaca1, Dpy19l2, Odf1, Akap4, Col1a1, Adam10, Odf2, Akap3, and Fsip2 by reducing the expression of testis-specific protein ZMYND15, then induces the lesion of sperm quality in rats, causes oligospermia or asthenospermia (Scheme 1).…”

Section: Discussionmentioning

confidence: 99%

“…7,8 A cohort study of infertile study has found novel mutations of ZMYND15 in patients with teratozoospermia. 9 ZMYND15 deletion in infertile patients downregulates protein expression of SPACA1, DPY19L2, ODF1, ODF2, AKAP4, AKAP3, COL1A1, FSIP2, and ADAM10, which are involved in sperm head development, flagellation and spermatogenesis. 10 Moreover, ZMYND15 has been proven to be a transcriptional repressor via binding with histone deacetylase enzymes (HDAC1, HDAC3, HDAC6) to regulate the expression of haploid genes including Prm1, Tnp1, Spem1, and Catpser3 during spermatogenesis.…”

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confidence: 99%

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Sodium arsenite impairs sperm quality via downregulating the ZMYND15 and ZMYND10

Li,

Shen,

Yuan

et al. 2024

Environmental Toxicology

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Zinc finger MYND‐type containing 15 (ZMYND15) has been documented to play important roles in spermatogenesis, and mutants contribute to recessive azoospermia, severe oligozoospermia, non‐obstructive azoospermia, teratozoospermia, even male infertility. ZMYND10 is involved in sperm motility. Whether environmental pollutants impair male fertility via regulating the expression of ZMYND15 and ZMYND10 has not been studied. Arsenic exposure results in poor sperm quality and male infertility. In order to investigate whether arsenic‐induced male reproductive toxicity is related to the expression of ZMYND15, ZMYND10 and their target genes, we established a male rat model of sodium arsenite exposure‐induced reproductive injury, measured sperm quality, serum hormone levels, mRNA and protein expressions of intratesticular ZMYND15 and ZMYND10 as well as their target genes. The results showed that, in addition to the increased mRNA expression of Tnp1, sodium arsenite exposure reduced sperm quality, serum hormone levels, and mRNA and protein expression of intratesticular ZMYND15 and ZMYND10 and their target genes in male rats compared with the control group (p < .05). Therefore, our study first showed that the environmental pollutant arsenic impairs sperm quality in male rats by reducing the expression of ZMYND10 and ZMYND15 and their regulatory genes, which provides a possible diagnostic marker for environmental pollutants‐induced male infertility.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Sodium arsenite impairs sperm quality via downregulating the ZMYND15 and ZMYND10

Li,

Shen,

Yuan

et al. 2024

Environmental Toxicology

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“…A homozygous loss-of-function mutation in the zinc finger MYND-type containing 15 ( ZMYND15 ) gene was found in recent research employing WES. It has been demonstrated that the lack of ZMYND15 produces nonobstructive azoospermia and severe oligozoospermia [ 59 ]; additionally, another research suggests that it may potentially be linked to teratozoospermia [ 60 ]. ZMYND15 has also been described as a switch for haploid gene expression.…”

Section: Discussionmentioning

confidence: 99%

A Comparative Cross-Platform Analysis to Identify Potential Biomarker Genes for Evaluation of Teratozoospermia and Azoospermia

Das

Guha

Nath

et al. 2022

Genes

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Male infertility is a global public health concern. Teratozoospermia is a qualitative anomaly of spermatozoa morphology, contributing significantly to male infertility, whereas azoospermia is the complete absence of spermatozoa in the ejaculate. Thus, there is a serious need for unveiling the common origin and/or connection between both of these diseases, if any. This study aims to identify common potential biomarker genes of these two diseases via an in silico approach using a meta-analysis of microarray data. In this study, a differential expression analysis of genes was performed on four publicly available RNA microarray datasets, two each from teratozoospermia (GSE6872 and GSE6967) and azoospermia (GSE145467 and GSE25518). From the analysis, 118 DEGs were found to be common to teratozoospermia and azoospermia, and, interestingly, sperm autoantigenic protein 17 (SPA17) was found to possess the highest fold change value among all the DEGs (9.471), while coiled-coil domain-containing 90B (CCDC90B) and coiled-coil domain-containing 91 (CCDC91) genes were found to be common among three of analyses, i.e., Network Analyst, ExAtlas, and GEO2R. This observation indicates that SPA17, CCDC90B, and CCDC91 genes might have significant roles to play as potential biomarkers for teratozoospermia and azoospermia. Thus, our study opens a new window of research in this area and can provide an important theoretical basis for the diagnosis and treatment of both these diseases.

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“…Several observational studies reported that mutations on DNAH1, SPEF2, and SEPT12 were correlated with sperm tail anomalies ( 51 - 53 ). Patients who harbor a pathogenic variant of ZMYND15 are also found to have abnormalities in sperm morphology based on sequencing analysis of 227 infertile men in China ( 54 ).…”

Section: Evidence Synthesismentioning

confidence: 99%

Isolated teratozoospermia: revisiting its relevance in male infertility: a narrative review

Atmoko,

Savira,

Shah

et al. 2024

Transl Androl Urol

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Background and Objective Basic semen analysis is the first step in the evaluation of male infertility. It includes an assessment of sperm morphology which is believed to reflect on overall spermatogenesis and sperm function. Teratozoospermia, defined as abnormal sperm morphology, is frequently present in association with severe oligoasthenozoospermia, but isolated teratozoospermia (in the presence of normal counts and motility) is a poorly understood clinical entity with conflicting implications in terms of fertility potential and treatment strategies. The following paper aims to: (I) discuss the classification of sperm morphology, causes, and molecular mechanism of teratozoospermia; (II) analyze the clinical significance and potential treatment options of isolated teratozoospermia as a cause of male infertility and a predictor of fertility outcome; and (III) provide a SWOT (strengths, weaknesses, opportunities, and threats) analysis based on the existing literature on this topic. Methods A comprehensive search from database inception to 25 April 2023 was conducted in PubMed for relevant papers relating to isolated teratozoospermia in male infertility. Finally, seven systematic reviews/reviews/meta-analyses and 81 original articles were synthesized into the current narrative review. Key Content and Findings Classification of sperm morphology has evolved significantly since the first edition of the World Health Organization (WHO) Manual of Human Semen Analysis. Kruger’s strict criteria are the most used classification and have been shown to correlate with fertility outcomes. There are many causes of teratozoospermia including genetic and environmental factors and physical conditions like varicocele. Teratozoospermia correlates with sperm DNA damage, elevated oxidative stress, low antioxidant function, and apoptotic alterations, which can result in impaired spermatozoa function and lower pregnancy rates. However, the clinical correlation between teratozoospermia and assisted reproductive technology (ART) outcome shows conflicting data with recent meta-analyses suggesting that isolated teratozoospermia was not associated with poor fertility outcomes from ART and that intrauterine insemination (IUI) can be an effective option even in the presence of teratozoospermia. There is very limited data on effective therapeutic options to treat idiopathic isolated teratozoospermia. The opportunity for future research is huge to fill the gap in the medical literature on this topic. Conclusions Contemporary literature on isolated teratozoospermia shows conflicting results in terms of its actual clinical implication in male infertility and the utility of available treatment options. Further research is warranted on this clinical entity to improve sperm function and future paternity.

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Sequencing of theZMYND15gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia

Cited by 4 publications

References 31 publications

Sodium arsenite impairs sperm quality via downregulating the ZMYND15 and ZMYND10

Sodium arsenite impairs sperm quality via downregulating the ZMYND15 and ZMYND10

A Comparative Cross-Platform Analysis to Identify Potential Biomarker Genes for Evaluation of Teratozoospermia and Azoospermia

Isolated teratozoospermia: revisiting its relevance in male infertility: a narrative review

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