Article
Biochemistry & Molecular Biology
Damaris Wallmeroth, Jan-Wilm Lackmann, Sabrina Kueckelmann, Janine Altmueller, Christoph Dieterich, Volker Boehm, Niels H. Gehring
Summary: The paralogous proteins UPF3A and UPF3B in humans play important roles in recognizing mRNAs targeted by nonsense-mediated mRNA decay (NMD). UPF3B supports NMD by bridging an exon junction complex (EJC) to the NMD factor UPF2. The role of UPF3A has been described as either a weak NMD activator or an NMD inhibitor. However, knockout or overexpression of UPF3A or knockout of UPF3B did not significantly affect global NMD activity. Co-depletion of UPF3A and UPF3B resulted in NMD inhibition, indicating functional redundancy between these two NMD factors.
Review
Biochemistry & Molecular Biology
Lingling Sun, Justine Mailliot, Christiane Schaffitzel
Summary: Nonsense-mediated mRNA decay (NMD) is a cellular surveillance mechanism that degrades mRNAs with a premature stop codon and downregulates the expression of endogenous transcripts. The core NMD factors are conserved from yeast to human, but mammals have diversified NMD pathways with additional factors. This review summarizes the molecular mechanisms and cellular roles of NMD and discusses its implications in neurodevelopmental diseases, cancer, and strategies used by RNA viruses to evade recognition by the NMD machinery.
Article
Biochemistry & Molecular Biology
Fabrice Lejeune
Summary: Nonsense-mediated mRNA decay (NMD) is a mechanism for rapidly eliminating mRNAs with premature termination codons and also regulates multiple genes. Researchers have discovered that NMD must be regulated to express genes that are normally repressed by NMD under specific physiological conditions, so a comprehensive understanding of NMD regulation is important for therapeutic purposes.
Article
Biochemistry & Molecular Biology
Sarah E. Fritz, Soumya Ranganathan, Clara D. Wang, J. Robert Hogg
Summary: This study reveals that an alternative isoform of the core NMD factor UPF1, UPF1(LL), can remodel the specificity of NMD in response to cellular stress. UPF1(LL) is able to bypass specific protective RNA binding proteins, bind and down-regulate transcripts with long 3'UTRs, and induce NMD in response to cellular stress conditions.
Article
Clinical Neurology
Gabrielle Zuniga, Simon Levy, Paulino Ramirez, Jasmine De Mange, Elias Gonzalez, Maria Gamez, Bess Frost
Summary: This study investigates the mechanisms behind altered RNA processing in tauopathies, specifically focusing on the reduction of nonsense-mediated mRNA decay (NMD) activity. The researchers find that deficits in NMD contribute to neurodegeneration in tauopathy through aberrant RNA export and accumulation. They identify a pharmacological activator of NMD that suppresses neurodegeneration in a tau transgenic Drosophila model, suggesting potential therapeutic value for tauopathy patients.
ALZHEIMERS & DEMENTIA
(2023)
Review
Genetics & Heredity
Preeti Nagar, Md Rafikul Islam, Mohammad Alinoor Rahman
Summary: NMD is a mechanism that ensures gene expression accuracy and regulation by degrading erroneous transcripts and modulating the abundance of endogenous mRNAs. It plays diverse biological functions during development, adaptation, and stress response. In tumorigenesis, NMD can be exploited by tumor cells to degrade specific mRNAs or suppressed to promote the expression of oncoproteins.
Article
Biotechnology & Applied Microbiology
Bo Sun, Liang Chen
Summary: Through genetical genomics, we elucidate the regulatory mechanism of NMD on individual genes across human tissues. We identify genetic variants that influence NMD regulation, which are often missed in traditional eQTL mapping. NMD regulation plays important roles in the brain and has specific genomic positions for NMD-QTLs.
Review
Virology
Md Robel Ahmed, Zhiyou Du
Summary: The interaction between viruses and hosts is dynamic and evolutionary. Eukaryotic hosts have multiple defense mechanisms against viral infection, including the nonsense-mediated mRNA decay (NMD) system. NMD ensures the accuracy of mRNA translation by degrading abnormal mRNAs. Many RNA viruses have internal stop codons (iTC), which activate NMD and lead to degradation of viral genomes. Some viruses are sensitive to NMD-mediated antiviral defense, while others have evolved mechanisms to overcome or escape NMD. This review summarizes the current understanding of NMD-mediated viral RNA degradation and the ways in which viruses compromise NMD for better infection.
Article
Biochemistry & Molecular Biology
Julie Carrard, Fiona Ratajczak, Josephine Elsens, Catherine Leroy, Rebekah Kong, Lucie Geoffroy, Arnaud Comte, Guy Fournet, Benoit Joseph, Xiubin Li, Sylvie Moebs-Sanchez, Fabrice Lejeune
Summary: The study has built a new screening system and identified two new molecules that can effectively inhibit nonsense-mediated mRNA decay (NMD). These molecules show no cellular toxicity at tested concentrations and have been validated in a lung cancer model with a nonsense mutation.
Article
Cell Biology
Alison J. Inglis, Alina Guna, Angel Galvez-Merchan, Akshaye Pal, Theodore K. Esantsi, Heather R. Keys, Evgeni M. Frenkel, Robert Oania, Jonathan S. Weissman, Rebecca M. Voorhees
Summary: Translation of mRNAs containing premature termination codons (PTCs) results in truncated protein products with deleterious effects. Nonsense-mediated decay (NMD) is responsible for detecting and degrading these proteins, and it relies on the ubiquitin proteasome pathway. Screening experiments identified factors involved in NMD-associated protein quality control and revealed a shared recognition event for both mRNA and protein branches of NMD.
JOURNAL OF CELL SCIENCE
(2023)
Article
Multidisciplinary Sciences
Hanae Sato, Robert H. Singer
Summary: The author developed a single-cell reporter system to investigate cell-to-cell variability of NMD efficiency. The study revealed a wide range of NMD efficiency in different cells, potentially linked to the expression levels of surveillance factors.
NATURE COMMUNICATIONS
(2021)
Article
Cell Biology
Yanjie Tan, Jing Zhang, Yi Jin
Summary: Skeletal muscle regeneration is a vital physiological process that responds to injury or disease. Nonsense-mediated mRNA decay (NMD) has been found to inhibit myoblast differentiation by targeting the phosphoinositide-3-kinase regulatory subunit 5 gene, leading to the suppression of MyoD's transcriptional activity. Inhibiting NMD can accelerate muscle regeneration, making it a potential therapeutic target for muscle-related injuries and diseases.
JOURNAL OF CELLULAR PHYSIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Sebastian Grosse, Yen-Yun Lu, Ivo Coban, Bettina Neumann, Heike Krebber
Summary: This study revealed that Gbp2 and Hrb1 are involved in nonsense mediated decay of premature termination codon-containing mRNAs by forming a complex with Upf proteins. They aid in transmitting PTC recognition signals and promoting translation repression and RNA degradation, thus controlling mRNA quality beyond the nuclear border. Identification of SR proteins as global surveillance factors in yeast sheds light on their potential role in understanding the complex human system with diseases related to defects in SR proteins or NMD.
Article
Cell Biology
Giao Vu Quynh Tran, Jens Kleinehr, Hannah Franziska Preugschas, Darisuren Anhlan, Fakry Fahmy Mohamed, Christina Ehrhardt, Stephan Ludwig, Eike Roman Hrincius
Summary: Research has shown that nonsense-mediated mRNA decay (NMD) has restricting capacities against positive-sense single-stranded RNA viruses but limited impact on negative-sense single-stranded RNA viruses. While knockdown of NMD components slightly increased viral mRNA and protein levels, it did not significantly alter viral replication, suggesting that NMD may not effectively restrict (-)ssRNA viruses.
CELLULAR MICROBIOLOGY
(2021)
Review
Cell Biology
Kristoffer Leon, Melanie Ott
Summary: The Nonsense-mediated mRNA Decay (NMD) pathway is a conserved RNA quality control pathway in eukaryotic cells, playing roles in controlling viral pathogens and maintaining homeostasis.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2021)
Editorial Material
Gastroenterology & Hepatology
Yoichi Kakuta, Tsuyoshi Shirai, Dermot P. B. Mcgovern, Jonathan Braun, Hiroshi Fujii, Atsushi Masamune
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Article
Environmental Sciences
Yangyang Liu, Tao Wang, Qiuyue Ge, Zhuocheng Shi, Kejian Li, Kedong Gong, Lifang Xie, Wei Wang, Qianlong Wang, Jin Han, Hongbo Fu, Jianmin Chen, Liwu Zhang
Summary: Flow velocity is found to play a crucial role in the heterogeneous oxidation of SO2 on alpha-Fe2O3 particles, with increased velocity significantly enhancing the oxidation capability. Specimen analysis suggests a shift in the oxidation mechanism from a heterogeneous reaction mediated by active sites under low flow velocity to an aqueous-like multiphase-dominated pathway under high flow velocity. This study highlights the importance of flow velocity in triggering fast sulfate production in dust chemistry.
ATMOSPHERIC ENVIRONMENT
(2023)
Article
Hematology
Yanli Ji, Yalin Luo, Jizhi Wen, Yuanfan Sun, Shuangshuang Jia, Chunquan Ou, Wenbing Yang, Jingwang Chen, Hanshen Ye, Xiangfu Liu, Yongneng Liang, Zhigang Lu, Ying Feng, Xinzhong Wu, Muzhou Xiao, Jiankun Mo, Zhenhai Zhou, Zhen Wang, Zhijian Liao, Junhu Chen, Ling Wei, Guangping Luo, Sentot Santoso, Yann Fichou, Willy Albert Flegel, Chaopeng Shao, Chengyao Li, Rui Zhang, Yongshui Fu
Summary: Asian-type DEL phenotype individuals express few RhD proteins and can tolerate transfusion of RhD-positive RBCs without producing alloanti-D. This study provides evidence supporting the safety and effectiveness of RhD-positive RBC transfusion in Asian-type DEL patients and suggests discontinuing anti-D prophylaxis.
Article
Environmental Sciences
Zhe Bai, Wen Wen, Wei Zhang, Ling Li, Lina Wang, Jianmin Chen
Summary: This study conducted an in-depth field study on the optical properties of ambient aerosols in Shanghai, China. The results showed that brown carbon (BrC) caused light absorption coefficients at different wavelengths, accounting for a certain proportion of the total aerosol absorption. In addition, the study found that long-chain aliphatic organosulfates (OSs) played an important role in the light absorption of soluble BrC. Therefore, further research on relevant technologies to reduce the impacts of vehicle emissions is needed.
ENVIRONMENTAL POLLUTION
(2023)
Article
Gastroenterology & Hepatology
Emmanuelle Masson, Maren Ewers, Sumit Paliwal, Kiyoshi Kume, Virginie Scotet, David N. Cooper, Vinciane Rebours, Louis Buscail, Karen Rouault, Amandine Abrantes, Lina Aguilera Munoz, Jeremie Albouys, Laurent Alric, Xavier Amiot, Isabelle Archambeaud, Solene Audiau, Laetitia Bastide, Julien Baudon, Guy Bellaiche, Serge Bellon, Valerie Bertrand, Karine Bideau, Kareen Billiemaz, Claire Billioud, Sabine Bonnefoy, Corinne Borderon, Barbara Bournet, Estelle Breton, Mathias Brugel, Louis Buscail, Guillaume Cadiot, Marine Camus, Marine Carpentier-Pourquier, Patrick Chamouard, Ulriikka Chaput, Jian-Min Chen, Franck Cholet, Dragos Marius Ciocan, Christine Clavel, Benoit Coffin, Laura Coimet-Berger, Simona Cosconea, Isabelle Creveaux, Adrian Culetto, Oussama Daboussi, Louis De Mestier, Thibault Degand, Christelle D'engremont, Bernard Denis, Solene Dermine, Desgrippes, Augustin Drouet D'Aubigny, Raphael Enaud, Alexandre Fabre, Claude Ferec, Dany Gargot, Eve Gelsi, Elena Gentilcore, Rodica Gincul, Emmanuelle Ginglinger-Favre, Marc Giovannini, Cecile Gomercic, Hannah Gondran, Thomas Grainville, Philippe Grandval, Denis Grasset, Stephane Grimaldi, Sylvie Grimbert, Herve Hagege, Sophie Heissat, Olivia Hentic, Anne Herber-Mayne, Marc Hervouet, Solene Hoibian, Jeremie Jacques, Benedicte Jais, Mehdi Kaassis, Stephane Koch, Elodie Lacaze, Joel Lacroute, Thierry Lamireau, Lucie Laurent, Xavier Le Guillou, Marc Le Rhun, Sarah Leblanc, Philippe Levy, Astrid Lievre, Diane Lorenzo, Frederique Maire, Kevin Marcel, Emmanuelle Masson, Jacques Mauillon, Stephanie Morgant, Driffa Moussata, Nelly Muller, Sophie Nambot, Bertrand Napoleon, Anne Olivier, Mael Pagenault, Anne-laure Pelletier, Olivier Pennec, Fabien Pinard, Mathieu Pioche, Benedicte Prost, Lucille Queneherve, Vinciane Rebours, Noemi Reboux, Samia Rekik, Ghassan Riachi, Barbara Rohmer, Bertrand Roquelaure, Isabelle Rosa Hezode, Florian Rostain, Jean-Christophe Saurin, Laure Servais, Roxana Stan-Iuga, Clement Subtil, Jeremy Tanneche, Charles Texier, Lucie Thomassin, David Tougeron, Lucine Vuitton, Timothee Wallenhorst, Marc Wangerme, Helene Zanaldi, Frank Zerbib, Seema Bhaskar, Kazuhiro Kikuta, G. Venkat Raoi, Shin Hamada, D. Nageshwar Reddy, Atsushi Masamune, Giriraj Ratan Chandak, Heiko Witt, Claude Ferec, Jian-Min Chen
Summary: The deletion CNV of PRSS3P2 and TRY7 is associated with a reduced risk for chronic pancreatitis, suggesting a protective effect.
Article
Hematology
Jizhi Wen, Shuangshuang Jia, Zhen Wang, Jingwang Chen, Qianni Liang, Ling Wei, Gaelle Richard, Yann Fichou, Guangping Luo, Yanli Ji
Summary: This study investigated the D variant phenotypes in the Southern Chinese population. The researchers identified common D variants as well as novel RHD alleles, and confirmed their deleterious effects on D antigen or mRNA expression.
Article
Gastroenterology & Hepatology
Emmanuelle Masson, Stephanie Berthet, Gerald Le Gac, Marc Le Rhun, Chandran Ka, Sandrine Autret, Isabelle Gourlaouen, David N. French GREPAN Study Group, David N. Cooper, Claude Ferec, Vinciane Rebours, Jian-Min Chen
Summary: Mutations in the PNLIP gene are associated with chronic pancreatitis, with protease-sensitive PNLIP variants contributing to the disease. This study provides new evidence supporting the association between protease-sensitive PNLIP variants and pancreatitis, identifying specific variants in affected individuals with a positive family history. These protease-sensitive variants are often found in early-onset cases, characterized by recurrent acute pancreatitis.
Article
Environmental Sciences
Yuan Liu, Xiancheng Tang, Zhiwei Zhang, Ling Li, Jianmin Chen
Summary: In this study, an online monitoring system for particle-bound ROS was developed using the fluorescent probe DCFH. The system showed high collection efficiency, good calibration, and significantly reduced ROS loss compared to offline methods. Field observations revealed that particle-bound ROS exhibited similar diurnal variations to O3, with photochemical reactions being the main influencing factor.
Article
Green & Sustainable Science & Technology
Yi Cheng, Junfang Mao, Zhe Bai, Wei Zhang, Linyuan Zhang, Hui Chen, Lina Wang, Ling Li, Jianmin Chen
Summary: By quantifying the absorption of black carbon (BC), brown carbon (BrC) and the lensing effect, it was found that BrC dominates the total absorption at 450 nm, and the largest absorption contribution proportion of BrC could reach 78.3% during heavy pollution. The average absorption enhancement (E-abs) at 530 nm was only 1.38, indicating that BC is not coated well here. The absorption of polycyclic aromatic nitrogen heterocycles (PANHs) is comparable to that of nitro-aromatics, which should attract more attention to their impact on climate radiative forcing.
Article
Engineering, Environmental
Tao Wang, Carmen Kalalian, Daniel Fillion, Sebastien Perrier, Jianmin Chen, Florent Domine, Liwu Zhang, Christian George
Summary: Sunlit thermokarst ponds are found to be a significant source of atmospheric VOCs, and the emission fluxes of these VOCs may be influenced by the segregation of organics at the air/water interface.
ENVIRONMENTAL SCIENCE & TECHNOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Clara Blotas, Claude Ferec, Stephanie Moisan
Summary: More than 2000 variations in the CFTR gene are related to various clinical issues. Phenotype and genotype correlations are still not well established, but tissue-specific regulatory elements and chromatin modules can modulate gene expression and disease manifestations. Expanding research beyond the gene is crucial for a comprehensive understanding.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Environmental Sciences
Longbo Shi, Zhi Liu, Wen Wen, Jung Hyun Son, Ling Li, Lina Wang, Jianmin Chen
Summary: Cooking oil fume (COF) is associated with health risks, and this study investigated the particle number size distribution (PNSD) of COF and its spatial distribution and influencing factors. The PNSD was found to follow a lognormal distribution, with peak diameters decreasing as the distance from the source increased. The decrease in temperature from the pot to the indoor environment led to a reduction in surface partial pressure of COF particles and the condensation of semi-volatile organic carbons (SVOCs) on the COF surface. The amount of edible oil used in dishes was positively correlated with COF concentration. Techniques for cleaning small size particles and improving air ventilation should be considered.
SCIENCE OF THE TOTAL ENVIRONMENT
(2023)
Article
Environmental Sciences
Zhixiu Liu, Jia Zhang, Dongxia Fan, Ge Wang, Biao Wu, Lei Lei, Lina Wang, Jinzhuo Zhao, Jianmin Chen
Summary: The coexistence of temperature changes and air pollution has a severe impact on the global environment, exacerbating health burdens. This study aimed to clarify the combined effects of ambient PM2.5 and cold exposure on the development of metabolic disorders. The results showed that a cold environment might substantially exacerbate PM2.5-induced metabolic disorder.
Article
Hematology
Pornlada Nuchnoi, Jairak Thongbut, Caroline Benech, Pawinee Kupatawintu, Dootchai Chaiwanichsiri, Claude Ferec, Yann Fichou
Summary: This study aimed to analyze D-negativity in Thai blood donors and design a specific strategy. The results showed that the most common observation was whole deletion of the gene, followed by the Asian type DEL allele and a D-negative hybrid allele. Based on these findings, a diagnostic strategy based on Rh C antigen typing and genotyping test has been designed.
Article
Hematology
Tatiane A. de Paula Vendrame, Carine P. Arnoni, Flavia R. M. Latini, Afonso J. Pereira Cortez, Caroline Benech, Yann Fichou, Lilian Castilho
Summary: This study used the QMPSF molecular protocol to investigate hybrid genes in sickle cell disease patients, and found that these hybrid alleles are more common in individuals with African descent. The QMPSF method also guided the investigation of RHCE variants and RHD zygosity, leading to the identification of two novel alleles.
