Investigation of piwi-interacting RNA pathway genes role in idiopathic non-obstructive azoospermia

Kamaliyan, Zeeba; Pouriamanesh, Sara; Soosanabadi, Mohsen; Gholami, Milad; Mirfakhraie, Reza

doi:10.1038/s41598-017-17518-4

Cited by 23 publications

(17 citation statements)

References 35 publications

(32 reference statements)

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“…Normally, these elements are kept under strict control by epigenetic factors, but during epigenetic reprogramming, they become reactivated. Sperm piRNA is needed for sustaining genomic integrity during these events, and a dysfunctional piRNA machinery may result in idiopathic nonobstructive azoospermia and infertility [42]. It has been recognized, however, that in the paternal germline, there are two separate populations of piRNAs, upregulated at two different time‐points.…”

Section: Introductionmentioning

confidence: 99%

Male reproductive health and intergenerational metabolic responses from a small RNA perspective

Nätt

Öst

2020

J Intern Med

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The world has recently experienced a decline in male reproductive (e.g. sperm counts and motility) and metabolic (e.g. obesity and diabetes) health. Accumulated evidence from animal models also shows that the metabolic health of the father may influence the metabolic health in his offspring. Vectors for such paternal intergenerational metabolic responses (IGMRs) involve small noncoding RNAs (sncRNAs) that often increase in spermatozoa during the last days of maturation in the epididymis. We and others have shown that the metabolic state – depending on factors such as diet, obesity and physical exercise – may affect sperm quality and sperm sncRNA. Together, this suggests that there are overlapping aetiologies between the male metabolic syndrome, male factor infertility and intergenerational responses. In this review, we present a theoretical framework for an overlap of these aetiologies by exploring the advances in our understanding of the roles of sncRNA in spermatogenesis and offspring development. A special focus will lie on novel findings about tRNA‐derived small RNA (tsRNA), rRNA‐derived small RNA (rsRNA) and small mitochondrial RNA (mitoRNA), and their emerging roles in intergenerational metabolic and reproductive health.

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Section: Introductionmentioning

confidence: 99%

Male reproductive health and intergenerational metabolic responses from a small RNA perspective

Nätt

Öst

2020

J Intern Med

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“…Non-obstructive azoospermia (NOA) is the most severe form of azoospermia and lacking of effective cures, whereas patients with obstructive azoospermia usually can be treated with assisted reproductive technologies (ART) surgery and bypass infertility in this way. To date, mutations on several genes have been identified causative for, or associated with NOA, the acknowledged genes include X chromosome linked genes TEX11, 4–7 FAM47C, 8 MAGEB4, 9 and AR; 10,11 and autosomal genes PIWIL1, 12–15 BRCA2, 16 BOLL and DAZL, 17,18 TEX15, 19–21 SYCP3, 22 NR5A1, 23 SOHLH1, 24 WT1, 25,26 TAF4B and ZMYND15, 27 FANCM, 28 SPINK2, 29 TEX14, 30 DNAH6, 30 MEIOB, 31 RNF212 and STAG3, 32 XRCC2, 33,34 TDRD7, 35 TDRD9, 36 DMC1, 37 SYCE1, 38 NPAS2, 39,40 MCM8, 41 MEI1, 42,43 and STX2 44 . A surprisingly large proportion of total genes are specifically expressed in the male testis, 45 suggesting that thousands of genes may involve in the spermatogenic process.…”

Section: Introductionmentioning

confidence: 99%

Whole exome sequencing identifies genes associated with non-obstructive azoospermia

Zhang

Huang

Zhang

et al. 2020

Preprint

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Background: Genetic etiology is the main cause of non-obstructive azoospermia, but little is known about the landscape of the disease causative genes. Objective: To identify the association of non-obstructive azoospermia and the putative causative genetic factors. Design, setting, and participants: A single-center perspective case-control study of 133 patients, with clinicopathologic non-obstructive azoospermia and 495 fertile men control was performed. Eleven trio families were available and enrolled from the 133 patients families. Outcome measurements and statistical analysis: Whole exome sequencing based rare variant association study between the cases and controls was performed by means of gene burden association testing. Linkage analysis on the trio family was also described to screen the causative genes. Results and limitations: Totally 80 genes (p < 0.05) were identified associated with non-obstructive azoospermia (2 of which were previously reported), meanwhile 5 novel genes out of which were also found potentially causative through the linkage analysis on the trio families. The pathway enrichment analysis was also provided to assess the potential interaction between genes identified in this study and previously reported together. The 5 novel identified overlap genes by both above mentioned test with the rare mutations account for an overall 20% (26 /133 patients) incidence, together with the 2 known genes together would account for an overall 20% incidence for non-obstructive azoospermia in this study. The study is limited by the lack of functional biological study. Conclusions: Five novel genes were identified associated with non-obstructive azoospermia by means of both rare variant association study and linkage analysis through trio families. They could account for about 20% clinical incidence among the patients in our study. Patient summary: 133 infertile patients (11 of them with parents enrolled) with idiopathic non-obstructive azoospermia and 300 fertile male controls were recruited from single clinic center. All patients underwent semen analyses at least on three different occasions.

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“…One study looked at the connection between SNPs of several key proteins involved in piRNA signaling pathway and idiopathic non-obstructive azoospermia (NOA) using a sample collection of Iranian infertile males with NOA. It turns out that rs508485 polymorphism in HIWI is correlated with the increased risk if azoospermia in the studied population [86]. If the research above showed an indirect relationship between piRNA and NOA, another recent research demonstrated the relationship more directly.…”

Section: Pirnas In Other Types Of Diseasesmentioning

confidence: 81%

The disease-related biological functions of PIWI-interacting RNAs (piRNAs) and underlying molecular mechanisms

Han

2019

ExRNA

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More than a decade ago, PIWI-interacting RNA (piRNA) was discovered almost simultaneously by four different research groups. The length of this type of single stranded noncoding RNA is 24~31 nucleotides (nt), with most of the piRNAs fall into the range of 29~30 nt. PiRNAs form specific RNA-induced silencing complex with PIWI subfamily proteins, which is how piRNA got its name. PiRNAs are initially famous for the crucial roles they played in germline cells. Binding with PIWI family proteins, piRNAs is able to affect methylation of genomic DNA in germline cells and, therefore, maintaining genomic stability and suppressing transposons. Since mammalian PIWI subfamily proteins are mainly germline specific, it was once thought that piRNAs might only function in the gonadal cells. However, evidence from the later research suggest that piRNAs are broadly expressed in many kinds of somatic cells and are involved in numerous pathological condition far beyond those have been reported in the germline. For example, piRNAs were discovered to be abnormally expressed in several kinds of cancers. PiRNAs are also shown to be promising prognostic markers for various types of cancers. Interestingly, a recent research indicated that piRNAs are also regulators for pancreatic beta cell function. PiRNAs are promising regulators for the development of type 2 diabetes. From a disease-oriented point of view, this review will focus on both confirmed and proposed biological functions of piRNAs mostly in those fields beyond germline cells. Meanwhile, some of the underlying molecular mechanisms will also be mentioned.

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Investigation of piwi-interacting RNA pathway genes role in idiopathic non-obstructive azoospermia

Cited by 23 publications

References 35 publications

Male reproductive health and intergenerational metabolic responses from a small RNA perspective

Male reproductive health and intergenerational metabolic responses from a small RNA perspective

Whole exome sequencing identifies genes associated with non-obstructive azoospermia

The disease-related biological functions of PIWI-interacting RNAs (piRNAs) and underlying molecular mechanisms

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