Investigating the regulatory function of the ANO1-AS2 on the ANO1 gene in infertile men with asthenozoospermia and terato-asthenozoospermia

Saberiyan, Mohammadreza; Mirfakhraie, Reza; Gholami, Delnya; Dehdehi, Leila; Teimori, Hossein

doi:10.1016/j.yexmp.2020.104528

Cited by 9 publications

(11 citation statements)

References 38 publications

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“…One more article was also excluded, as it was a perspective and did not present original data. Finally, a total of 20 articles remained to be included in the present systematic review [ 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 ].…”

Section: Resultsmentioning

confidence: 99%

“…Therefore, the reduction of HOTAIR and the subsequent reduction of Nrf2, which has a protective role in normal cells, enhances oxidative stress, resulting in a negative impact on sperm motility and the presence of asthenozoospermia. Similarly, Saberiyan et al (2020) [ 43 ] explored the association between ANO1-AS2 lncRNA, a gene that is located near it ( ANO1 , anoctamin), and asthenozoospermia. The expression levels of the lncRNA were significantly upregulated in patients with asthenozoospermia in comparison with healthy males, and were negatively associated with sperm motility.…”

Section: Resultsmentioning

confidence: 99%

“…As in the studies on asthenozoospermia, studies on teratoasthenozoospermia focus on specific lncRNAs ( Table 3 ). Saberiyan et al (2020) [ 43 ] studied ANO1-AS2 and ANO1, and found that ANO1-AS2 was upregulated in TAZ patients while ANO1 was downregulated. The expression of ANO1-AS2 was also found to be inversely correlated with sperm morphology, while ANO1 was positively correlated with it.…”

Section: Resultsmentioning

confidence: 99%

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The Role of Long Noncoding RNAs on Male Infertility: A Systematic Review and In Silico Analysis

Kyrgiafini

Sarafidou

Mamuris

2022

Biology

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Male infertility is a complex disorder affecting many couples worldwide. Long noncoding RNAs (lncRNAs) regulate important cellular processes; however, a comprehensive understanding of their role in male infertility is limited. This systematic review investigates the differential expressions of lncRNAs in male infertility or variations in lncRNA regions associated with it. The PRISMA guidelines were used to search Pubmed and Web of Science (1 June 2022). Inclusion criteria were human participants, patients diagnosed with male infertility, and English language speakers. We also performed an in silico analysis investigating lncRNAs that are reported in many subtypes of male infertility. A total of 625 articles were found, and after the screening and eligibility stages, 20 studies were included in the final sample. Many lncRNAs are deregulated in male infertility, and interactions between lncRNAs and miRNAs play an important role. However, there is a knowledge gap regarding the impact of variants found in lncRNA regions. Furthermore, eight lncRNAs were identified as differentially expressed in many subtypes of male infertility. After in silico analysis, gene ontology (GO) and KEGG enrichment analysis of the genes targeted by them revealed their association with bladder and prostate cancer. However, pathways involved in general in tumorigenesis and cancer development of all types, such as p53 pathways, apoptosis, and cell death, were also enriched, indicating a link between cancer and male infertility. This evidence, however, is preliminary. Future research is needed to explore the exact mechanism of action of the identified lncRNAs and investigate the association between male infertility and cancer.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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The Role of Long Noncoding RNAs on Male Infertility: A Systematic Review and In Silico Analysis

Kyrgiafini

Sarafidou

Mamuris

2022

Biology

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“…The role of antisense lncRNAs in various types of male infertility was revealed before. For example, our previous study showed that high expression of ANO1‐AS2 downregulated the ANO1 gene by interacting with the ANO1 gene promoter and influenced sperm motility and morphology (Saberiyan, Mirfakhraie, Gholami, et al, 2020). Moreover, it was shown that lncNONO‐AS regulated spermatogenesis in goats by regulating androgen receptor (AR) expression (Zhao et al, 2020).…”

Section: Discussionmentioning

confidence: 99%

Reduced expression ofCFAP44andCFAP44‐AS1may affect sperm motility and morphology

et al. 2022

Self Cite

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Motility and morphology are two important characteristics of a fertile spermatozoon. CFAP44 gene encodes flagellar protein 44 involved in the formation and function of the flagella and cilia. Long non‐coding RNAs are regulatory elements involved in several processes, including reproduction. We aimed to study the alterations in the expressions of CFAP44 and CFAP44‐AS1 genes in infertile men with asthenozoospermia and terato‐asthenozoospermia. In this case–control study, a total of 105 subjects, including 35 TAZ patients, 34 AZ patients and 35 normozoospermic men, were enrolled. After RNA extraction from spermatozoa samples, quantitative real‐time PCR was performed to compare the expression of CFAP44 and CFAP44‐AS1 between the studied groups. A meaningful reduction in CFAP44 expression and a significant reduction in the expression of CFAP44‐AS1 were observed. Moreover, a positive correlation between both genes' expressions and normal sperm morphology was detected in NZ, AZ and TAZ groups. Also, there was a positive relation between CFAP44 gene expression and sperm motility in AZ and TAZ groups. The expression of CFAP44‐AS1 was positively correlated with sperm motility and morphology. Present results confirm the role of CFAP44 and CFAP44‐AS1 in the motility and morphology of spermatozoon, and deregulation of these genes may contribute to male infertility.

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“…Many factors have been found to influence sperm motility and morphology, and genetic defects in the sperm result in the development of asthenoteratozoospermia [ 2 ]. Potassium channels are important factors in the structure and function of the sperm, and their defects can cause dysfunction in the physiology and function of sperm.…”

Section: Introductionmentioning

confidence: 99%

Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations

Liu

Ma³

et al. 2022

Reprod Biol Endocrinol

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Background Potassium channels are important for the structure and function of the spermatozoa. As a potassium transporter, the mSlo3 is essential for male fertility as Slo3 knockout male mice were infertile with the series of functional defects in sperm cells. However, no pathogenic variant has been detected in human SLO3 to date. Here we reported a human case with homozygous SLO3 mutation. The function of SLO3 in human sperm and the corresponding assisted reproductive strategy are also investigated. Methods We performed whole-exome sequencing analysis from a large cohort of 105 patients with asthenoteratozoospermia. The effects of the variant were investigated by quantitative RT-PCR, western blotting, and immunofluorescence assays using the patient spermatozoa. Sperm morphological and ultrastructural studies were conducted using haematoxylin and eosin staining, scanning and transmission electron microscopy. Results We identified a homozygous missense variant (c.1237A > T: p.Ile413Phe) in the sperm-specific SLO3 in one Chinese patient with male infertility. This SLO3 variant was rare in human control populations and predicted to be deleterious by multiple bioinformatic tools. Sperm from the individual harbouring the homozygous SLO3 variant exhibited severe morphological abnormalities, such as acrosome hypoplasia, disruption of the mitochondrial sheath, coiled tails, and motility defects. The levels of SLO3 mRNA and protein in spermatozoa from the affected individual were reduced. Furthermore, the acrosome reaction, mitochondrial membrane potential, and membrane potential during capacitation were also afflicted. The levels of acrosome marker glycoproteins and PLCζ1 as well as the mitochondrial sheath protein HSP60 and SLO3 auxiliary subunit LRRC52, were significantly reduced in the spermatozoa from the affected individual. The affected man was sterile due to acrosome and mitochondrial dysfunction; however, intra-cytoplasmic sperm injection successfully rescued this infertile condition. Conclusions SLO3 deficiency seriously impact acrosome formation, mitochondrial sheath assembly, and the function of K+ channels. Our findings provided clinical implications for the genetic and reproductive counselling of affected families.

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Investigating the regulatory function of the ANO1-AS2 on the ANO1 gene in infertile men with asthenozoospermia and terato-asthenozoospermia

Cited by 9 publications

References 38 publications

The Role of Long Noncoding RNAs on Male Infertility: A Systematic Review and In Silico Analysis

The Role of Long Noncoding RNAs on Male Infertility: A Systematic Review and In Silico Analysis

Reduced expression ofCFAP44andCFAP44‐AS1may affect sperm motility and morphology

Homozygous mutation in SLO3 leads to severe asthenoteratozoospermia due to acrosome hypoplasia and mitochondrial sheath malformations

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