Background: The PIWI-interacting RNA (piRNA) pathway has an essential role in transposon silencing, meiosis progression, spermatogenesis, and germline maintenance. genes are critical for piRNA biogenesis and function. Therefore, polymorphisms in genes contribute to spermatogenesis defects and can be considered as risk factors for male infertility. The aim of the present study was to investigate the association between the gene rs508485 polymorphism and non-obstructive azoospermia.
Methods: A total of 121 Iranian men with idiopathic azoospermia and 100 fertile controls were genotyped for rs508485 (T>C) polymorphism using Tetra-ARMS PCR. The presence of eight sequence-tagged site (STS) markers from the Y chromosome AZF region was also investigated by Multiplex PCR (M-PCR).
Results: Thirteen (10.74%) patients showed Y chromosome microdeletions and therefore were excluded from the study. rs508485 in the 3'UTR of was associated with increased risk of azoospermia in our studied population with a of 0.035 and odds ratio of 2.00 (CI 95%: 1.04-3.86).
Conclusions: We provide evidence for an association between genetic variation in the gene involved in the piRNA pathway and idiopathic non-obstructive azoospermia in Iranian patients. Therefore, piRNA pathway gene variants can be considered as risk factors for male infertility.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346278 | PMC |
Publication Analysis
Top Keywords
Similar Publications
CARF regulates the alternative splicing and piwi/piRNA complexes during mouse spermatogenesis through PABPC1.
Acta Biochim Biophys Sin (Shanghai)
December 2024
ADP-ribosylation factor collaborator (CARF), which is also known as CDKN2AIP, was first recognized as an ADP-ribosylation factor-interacting protein that participates in the activation of the ARF-p53-p21 (WAF1) signaling pathway under different conditions, such as oxidative and oncogenic stresses. The activation of this pathway often leads to cell growth arrest and apoptosis as well as senescence. Previous studies revealed that CARF, an RNA-binding protein, is critical for maintaining stem cell pluripotency and somatic differentiation.
View Article and Find Full Text PDFSmall RNA sequencing of differentiated astrocytoma exposed to NMOSD patient sera reveals perturbations in neurodegenerative signaling.
Exp Cell Res
December 2024
Biophysics and Structural Genomics Division, Saha Institute of Nuclear Physics, A CI of Homi Bhabha National Institute, Kolkata, 700 064, West Bengal, India. Electronic address:
The signaling pathways behind severe astrocytic lysis with Aquaporin4 auto-antibody (AQP4-IgG) seropositivity, and reactive astrocytosis with myelin oligodendrocyte glycoprotein auto-antibody (MOG-IgG) seropositivity, remain largely unexplored in Neuromyelitis optica spectrum disorder (NMOSD), while almost no molecular details being known about double-seronegative (DN) patients. Recent discovery of glial fibrillary acidic protein (GFAP) in DN NMOSD patients' cerebrospinal fluid, akin to AQP4-IgG + ve cases, suggests astrocytopathy. Here, we aim to study small non coding RNA (sncRNA) signature alterations in astrocytes exposed to AQP4-IgG + ve and MOG-IgG + ve patient sera, and their potential resemblance with DN-NMOSD.
View Article and Find Full Text PDFEmbryonic piRNAs target horizontally transferred vertebrate transposons in assassin bugs.
Front Cell Dev Biol
November 2024
Instituto de Ciências Biomédicas, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Article Synopsis
- - The study investigates the role of Piwi proteins and piRNAs in protecting the genome of
- Rhodnius prolixus
- , a hemipteran insect known to transmit Chagas disease, from DNA damage caused by horizontally transferred transposable elements (HTTs) acquired from its diet.
- - By using SmallRNA-Seq and RNA-Seq techniques, researchers quantified piRNA features and gene expression levels, revealing that piRNA production peaks during embryogenesis, correlating with reduced expression of HTTs and resident transposable elements.
- - The findings highlight that while resident transposable element piRNAs engage in a typical ping-pong amplification mechanism, the response to HTTs is different, suggesting unique biogenesis and functional pathways for pi
Divergent toxin alleles are suppressed by distinct mechanisms.
bioRxiv
November 2024
Department of Human Genetics, University of California, Los Angeles, CA, USA.
Toxin-antidote elements (TAs) are selfish DNA sequences that bias their transmission to the next generation. TAs typically consist of two linked genes: a toxin and an antidote. The toxin kills progeny that do not inherit the TA, while the antidote counteracts the toxin in progeny that inherit the TA.
View Article and Find Full Text PDFNon-coding RNAs in oral cancer: Emerging biomarkers and therapeutic frontier.
Heliyon
November 2024
Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Article Synopsis
- Oral cancer (OC) is a significant global health issue, leading to many deaths, and early detection is vital for better patient outcomes.
- Advancements in DNA sequencing and transcriptome profiling have highlighted the role of non-coding RNAs (ncRNAs) in regulating genomic processes and signaling pathways, making them promising for clinical use.
- Combining spatial transcriptomics and metabolomics with single-cell RNA sequencing enhances our understanding of tumor environments, while exploring salivary biomarkers offers non-invasive diagnostic options for OC.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!