Investigation of polymorphisms in exon7 of the NSUN7 gene among Chinese Han men with asthenospermia

Hy, Ren; Zhong, Rugang; Xp, Ding; Zy, Chen; Yl, Jing

doi:10.4238/2015.august.10.6

Cited by 9 publications

(7 citation statements)

References 21 publications

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“…In asthenospermic patients, the transversion mutation in exon7 of NSUN7 results in change of protein spatial structure, protein folding, and ligand binding sites, leading to infertility (Khosronezhad, Colagar, & Jorsarayi, 2015). Intriguingly, another study found that transversion mutation of exon7 was not related to asthenospermia in Chinese Han men (Ren, Zhong, Ding, Chen, & Jing, 2015). Meanwhile, NSUN7 was broadly expressed during mouse embryo development and the defect of NSUN7 might lead to male sterility and intellectual disability (Chi & Delgado‐Olguín, 2013).…”

Section: Methyltranferasesmentioning

confidence: 98%

Dynamic transcriptomic m⁵C and its regulatory role in RNA processing

et al. 2021

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RNA 5‐methylcytosine (m5C) is a prevalent RNA modification in multiple RNA species, including messenger RNAs (mRNAs), transfer RNAs (tRNAs), ribosomal RNAs (rRNAs), and noncoding RNAs (ncRNAs), and broadly distributed from archaea, prokaryotes to eukaryotes. The multiple detecting techniques of m5C have been developed, such as m5C‐RIP‐seq, miCLIP‐seq, AZA‐IP‐seq, RNA‐BisSeq, TAWO‐seq, and Nanopore sequencing. These high‐throughput techniques, combined with corresponding analysis pipeline, provide a precise m5C landscape contributing to the deciphering of its biological functions. The m5C modification is distributed along with mRNA and enriched around 5′UTR and 3′UTR, and conserved in tRNAs and rRNAs. It is dynamically regulated by its related enzymes, including methyltransferases (NSUN, DNMT, and TRDMT family members), demethylases (TET families and ALKBH1), and binding proteins (ALYREF and YBX1). So far, accumulative studies have revealed that m5C participates in a variety of RNA metabolism, including mRNA export, RNA stability, and translation. Depletion of m5C modification in the organism could cause dysfunction of mitochondria, drawback of stress response, frustration of gametogenesis and embryogenesis, abnormality of neuro and brain development, and has been implicated in cell migration and tumorigenesis. In this review, we provide a comprehensive summary of dynamic regulatory elements of RNA m5C, including methyltransferases (writers), demethylases (erasers), and binding proteins (readers). We also summarized the related detecting technologies and biological functions of the RNA 5‐methylcytosine, and provided future perspectives in m5C research. This article is categorized under: RNA Processing > RNA Editing and Modification

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Section: Methyltranferasesmentioning

confidence: 98%

Dynamic transcriptomic m⁵C and its regulatory role in RNA processing

et al. 2021

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“…Mouse model studies have shown that the structural integrity of the flagella is of extreme importance for normal sperm motility, and defects in the axoneme assembly render poor sperm motility 52 . Not surprisingly, WES has identified a large number of genetic variants relevant to asthenozoospermia, while each variant is likely responsible for just a small fraction of patients, particularly including ADCY10 53 , CATSPER1-4 54 , EIF4G1 55 , GALNTL5 56 , NSUN7 57 , PLA2G6 54 , SPAG17 58 , and TRPC5 59 (Table 1 ).…”

Section: Spermiogenic Defects: Insight View From Mouse Modelsmentioning

confidence: 99%

Towards Post-Meiotic Sperm Production: Genetic Insight into Human Infertility from Mouse Models

Azhar¹,

Altaf²,

Uddin³

et al. 2021

Int. J. Biol. Sci.

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Declined quality and quantity of sperm is currently the major cause of patients suffering from infertility. Male germ cell development is spatiotemporally regulated throughout the whole developmental process. While it has been known that exogenous factors, such as environmental exposure, diet and lifestyle, et al, play causative roles in male infertility, recent progress has revealed abundant genetic mutations tightly associated with defective male germline development. In mammals, male germ cells undergo dramatic morphological change (i.e., nuclear condensation) and chromatin remodeling during post-meiotic haploid germline development, a process termed spermiogenesis; However, the molecular machinery players and functional mechanisms have yet to be identified. To date, accumulated evidence suggests that disruption in any step of haploid germline development is likely manifested as fertility issues with low sperm count, poor sperm motility, aberrant sperm morphology or combined. With the continually declined cost of next-generation sequencing and recent progress of CRISPR/Cas9 technology, growing studies have revealed a vast number of disease-causing genetic variants associated with spermiogenic defects in both mice and humans, along with mechanistic insights partially attained and validated through genetically engineered mouse models (GEMMs). In this review, we mainly summarize genes that are functional at post-meiotic stage. Identification and characterization of deleterious genetic variants should aid in our understanding of germline development, and thereby further improve the diagnosis and treatment of male infertility.

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“…In humans, RNA m 5 C formation is catalysed by the tRNA aspartic acid MTase 1 (TRDMT1/DNMT2), and by seven proteins of the NOP2/Sun domain family (NSUN1-7) (Garc ıa-V ılchez et al, 2019). Pathogenic mutations in humans have been mapped to several genes involved in the m 5 C pathway (Abbasi-Moheb et al, 2012;Khan et al, 2012;Martinez et al, 2012;Khosronezhad et al, 2015;Komara et al, 2015;Ren et al, 2015;Haag et al, 2016;Nakano et al, 2016;Van Haute et al, 2016). Despite its conservation and clear relevance, the functions and molecular interactions of the RNA m 5 C methylome remain largely unknown.…”

Section: Introductionmentioning

confidence: 99%

Translational adaptation to heat stress is mediated by RNA 5‐methylcytosine in Caenorhabditis elegans

et al. 2020

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Methylation of carbon-5 of cytosines (m 5 C) is a post-transcriptional nucleotide modification of RNA found in all kingdoms of life. While individual m 5 C-methyltransferases have been studied, the impact of the global cytosine-5 methylome on development, homeostasis and stress remains unknown. Here, using Caenorhabditis elegans, we generated the first organism devoid of m 5 C in RNA, demonstrating that this modification is non-essential. Using this genetic tool, we determine the localisation and enzymatic specificity of m 5 C sites in the RNome in vivo. We find that NSUN-4 acts as a dual rRNA and tRNA methyltransferase in C. elegans mitochondria. In agreement with leucine and proline being the most frequently methylated tRNA isoacceptors, loss of m 5 C impacts the decoding of some triplets of these two amino acids, leading to reduced translation efficiency. Upon heat stress, m 5 C loss leads to ribosome stalling at UUG triplets, the only codon translated by an m 5 C34-modified tRNA. This leads to reduced translation efficiency of UUG-rich transcripts and impaired fertility, suggesting a role of m 5 C tRNA wobble methylation in the adaptation to higher temperatures.

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Investigation of polymorphisms in exon7 of the NSUN7 gene among Chinese Han men with asthenospermia

Cited by 9 publications

References 21 publications

Dynamic transcriptomic m⁵C and its regulatory role in RNA processing

Dynamic transcriptomic m⁵C and its regulatory role in RNA processing

Towards Post-Meiotic Sperm Production: Genetic Insight into Human Infertility from Mouse Models

Translational adaptation to heat stress is mediated by RNA 5‐methylcytosine in Caenorhabditis elegans

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Investigation of polymorphisms in exon7 of the NSUN7 gene among Chinese Han men with asthenospermia

Cited by 9 publications

References 21 publications

Dynamic transcriptomic m5C and its regulatory role in RNA processing

Dynamic transcriptomic m5C and its regulatory role in RNA processing

Towards Post-Meiotic Sperm Production: Genetic Insight into Human Infertility from Mouse Models

Translational adaptation to heat stress is mediated by RNA 5‐methylcytosine in Caenorhabditis elegans

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Dynamic transcriptomic m⁵C and its regulatory role in RNA processing

Dynamic transcriptomic m⁵C and its regulatory role in RNA processing