Article
Multidisciplinary Sciences
Michal Levo, Joao Raimundo, Xin Yang Bing, Zachary Sisco, Philippe J. Batut, Sergey Ryabichko, Thomas Gregor, Michael S. Levine
Summary: The prevailing view of metazoan gene regulation is challenged by recent findings that reveal physical and functional connections between genes separated by large genomic distances, providing new insights into gene regulation mechanisms.
Article
Biology
Vivek Kumar Raxwal, Somya Singh, Manu Agarwal, Karel Riha
Summary: The study revealed that new genes in rice have relatively low expression levels, possibly controlled by distal enhancers and chromatin conformation at their TSS; the chromatin in TSS regions may be remodeled in response to abiotic stress, indicating conditional expression of young genes. Furthermore, transcripts of young genes in Arabidopsis are prone to nonsense-mediated RNA decay, restricting their expression.
Article
Neurosciences
Zhendong Feng, Oleg O. Glebov
Summary: This study reveals how neuronal activity rapidly regulates the recruitment of R-type VGCCs in hippocampal neurons through synaptic NMDAR signaling, suggesting a feedback mechanism for regulating synaptic Ca2+ signaling.
EUROPEAN JOURNAL OF NEUROSCIENCE
(2021)
Article
Multidisciplinary Sciences
Rui Zhou, Guodong Wang, Qi Li, Fanxi Meng, Can Liu, Rui Gan, Dapeng Ju, Meimei Liao, Junjie Xu, Di Sang, Xue Gao, Shuang Zhou, Kejia Wu, Quanzhi Sun, Ying Guo, Chongyang Wu, Zhiyu Chen, Lin Chen, Bihan Shi, Haiyan Wang, Xia Wang, Huaiye Li, Tao Cai, Bin Li, Fengchao Wang, Hiromasa Funato, Masashi Yanagisawa, Eric Erquan Zhang, Qinghua Liu
Summary: This study characterizes a major signaling pathway for the transcriptional regulation of sleep in mice, involving the LKB1-SIK3 pathway and phosphorylation of HDAC4/HDAC5. The findings provide insights into the molecular mechanisms that regulate sleep quantity and offer new potential targets for the treatment of sleep disorders.
Article
Neurosciences
Kiel G. Ormerod, Anthony E. Scibelli, J. Troy Littleton
Summary: The Drosophila neuromuscular system has been used to study synaptic development and function, but little is known about specific synaptic alterations on neuromuscular transduction and muscle contractility. Studies show that larval muscle contraction force increases with motoneuron stimulation frequency and duration, with plasticity between 5 and 40 Hz. Genetic and pharmacological manipulations of Ca2+ regulation components affect muscle contraction strength and timing. Identification of a FMRFa peptide and its signaling pathway dramatically improves muscle performance, showcasing Drosophila as a model for studying excitation-contraction coupling.
JOURNAL OF PHYSIOLOGY-LONDON
(2022)
Review
Biochemistry & Molecular Biology
Sung-Min Park, Tae-Il Kang, Jae-Seon So
Summary: XBP1s is an active transcription factor that plays a critical role in regulating UPR target genes to reduce ER stress. It also controls the transcription of genes involved in lipid and glucose metabolism, as well as immune responses. Understanding the target genes and transcriptional regulatory mechanisms of XBP1s will aid in developing new therapeutic targets for various diseases.
Review
Cell Biology
Kamalakshi Deka, Yinghui Li
Summary: The NF-kappa B signaling pathway plays a major role in inflammation and innate immunity, and is also crucial for cancer initiation and progression. It consists of canonical and non-canonical pathways, with the canonical pathway being prevalent in various human malignancies and inflammation-related diseases. The non-canonical pathway is also increasingly recognized in disease pathogenesis.
Review
Biochemistry & Molecular Biology
Dries Amezian, Ralf Nauen, Gaelle Le Goff
Summary: Arthropods have evolved various strategies, including the induction of detoxification enzymes, to defend themselves against a wide array of chemicals in their environment. Studies using advanced genetic tools in insects have substantially contributed to our understanding of the genomic basis of their xenobiotic response. Signaling pathways such as nuclear receptors and transcription factors play crucial roles in the upregulation of detoxification enzymes and can impact insects' adaptive processes.
PESTICIDE BIOCHEMISTRY AND PHYSIOLOGY
(2021)
Review
Microbiology
Mengwen Zhang, Shu Zheng, Jessie Qiaoyi Liang
Summary: Human endogenous retroviruses (HERVs) originated from ancient retroviral infections of germline cells millions of years ago and have evolved as part of the host genome. HERVs not only retain the capacity as retroelements but also regulate host gene expression. Domesticated copies of HERVs in normal cells play important roles in genome regulation and transcription processes.
FRONTIERS IN MICROBIOLOGY
(2022)
Review
Neurosciences
Eduardo Leyva-Diaz
Summary: CUT homeobox genes are a crucial gene class that plays critical roles in the development and maintenance of various cell types in different organisms. They are involved in diverse processes such as body axis formation, organogenesis, tissue patterning, and neuronal specification. Besides their function as transcriptional regulators, they also serve as accessory factors in DNA repair pathways. CUT genes are highly conserved and have undergone significantly more rearrangements and diversification compared to other homeobox gene classes. Understanding the functions and regulatory networks of CUT homeobox genes provides insights into the molecular mechanisms of embryonic development and tissue homeostasis. Moreover, aberrant expression or mutations in CUT homeobox genes are associated with various human diseases, highlighting their relevance beyond developmental processes.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Review
Oncology
Vinay Kumar Rao, Dipanwita Das, Reshma Taneja
Summary: Cancer cachexia is a complex syndrome characterized by significant weight loss predominantly caused by the loss of skeletal muscle and adipose tissue. Despite the focus on inflammatory factors for developing therapeutics, a comprehensive understanding of deregulated signaling and catabolic gene expression is necessary for developing new therapies to treat cancer cachexia.
Article
Biochemistry & Molecular Biology
Yanqiang Li, Yang Yi, Jie Lv, Xinlei Gao, Yang Yu, Sahana Suresh Babu, Ivone Bruno, Dongyu Zhao, Bo Xia, Weiqun Peng, Jun Zhu, Hong Chen, Lili Zhang, Qi Cao, Kaifu Chen
Summary: Cell identity genes possess unique transcription regulation mechanisms involving super-enhancers and broad H3K4me3 domains, but their mRNA stability has not been well understood. Through transcriptome-wide analysis in nine cell types, we found that unstable transcripts were enriched in pathways related to cell identity, while stable transcripts were enriched in housekeeping pathways. Joint analysis of RNA stability and chromatin state revealed significant enrichment of super-enhancers and broad H3K4me3 domains at the gene loci of unstable transcripts. Interestingly, the RNA m(6)A methyltransferase METTL3 preferentially binds to chromatin at super-enhancers, broad H3K4me3 domains, and their associated genes.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Cell Biology
Rodrigo Torres, Cecilia Hidalgo
Summary: Ryanodine receptors (RyR) are expressed in the brain with different isoforms, which play different roles in neuronal function. Understanding the transcriptional regulation of RyR isoforms is crucial for elucidating the causes of brain disorders associated with neuronal dysfunction.
Review
Nutrition & Dietetics
Ines Bravo-Ruiz, Miguel Angel Medina, Beatriz Martinez-Poveda
Summary: Lipids and carbohydrates regulate gene expression through molecules such as PPAR and ChREBP, playing key roles in metabolic homeostasis, particularly in glucose and lipid metabolism. While they are ideal therapeutic targets for obesity, diabetes, and fatty liver, their pleiotropic functions in different tissues pose challenges in targeting them effectively.
Review
Cell Biology
Fabio Arturo Iannotti, Rosa Maria Vitale
Summary: PPARs are a family of nuclear receptors that regulate the expression of target genes involved in metabolism, immune reaction, cell differentiation, and other cellular changes. They are activated by various lipid molecules, including cannabinoids, and interact with the endocannabinoid system to modulate physiological and pathophysiological functions.
Article
Psychology, Developmental
Fiana Ni Ghralaigh, Ellen McCarthy, Daniel N. Murphy, Louise Gallagher, Lorna M. Lopez
Summary: This study evaluates the clinical utility of gene panels marketed for use in autism and finds that the diagnostic yields range from 0.22% to 10.02%. The gene selection for these panels also varies in relevance, measured as the overlap percentage with SFARI Gene, ranging from 15.15% to 100%. The study concludes that the current gene panels for autism have limited clinical utility and suggests that sequencing with greater coverage may be more appropriate.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Biochemistry & Molecular Biology
Xinpu Tang, Yi Pu, Haoning Peng, Kaixiu Li, Sara Faouzi, Tianjian Lu, Dan Pu, Michael Cerezo, Jianguo Xu, Lu Li, Caroline Robert, Shensi Shen
Summary: As a central node of protein synthesis, the cap-binding complex, eukaryotic translation initiation factor 4 F (eIF4F), is involved in cell homeostasis, development and tumorigenesis. A large body of literature exists on the regulation and function of eIF4F in cancer cells, however the intracellular localization patterns of this complex are largely unknown. This study developed an in situ detection method for eIF4F at the single cell level and identified five distinct spatial patterns of the eIF4F translation initiation complex in human melanoma cells. The spatial patterns of eIF4F complexes at the single cell level could distinguish melanoma cells harboring different oncogenic driver mutations, suggesting their potential association with melanoma cell chemoresistance.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2023)
Review
Clinical Neurology
Sven Bolte, Janina Neufeld, Peter B. Marschik, Zachary J. Williams, Louise Gallagher, Meng-Chuan Lai
Summary: There are qualitative and quantitative differences in health conditions between individuals of different birth-assigned sexes, gender identities, and gender experiences, which require personalized care. It is important to study the moderating and mediating effects of sex and gender factors on impairment, disability, wellbeing, and health, especially for neurodivergent individuals. Researchers have started to investigate the mechanisms through which sex and gender variables affect the manifestations of neurodevelopmental conditions.
NATURE REVIEWS NEUROLOGY
(2023)
Article
Cell & Tissue Engineering
Giuliana E. Salazar-Noratto, Catriana C. Nations, Hazel Y. Stevens, Maojia Xu, Sean Gaynard, Claire Dooley, Nica de Nijs, Katya McDonagh, Sanbing Shen, S. Clifton Willimon, Frank Barry, Robert E. Guldberg
Summary: Juvenile osteochondritis dissecans (JOCD) is a pediatric disease characterized by osteonecrotic lesion and separation of necrotic fragment, leading to early-onset osteoarthritis. This study used induced pluripotent stem cells (iPSCs) to investigate JOCD pathomechanisms. The study found that JOCD cells have lower chondrogenic capability and their endochondral ossification process differs from control cells, indicating potential involvement of endoplasmic reticulum (ER) stress. The study establishes JOCD-specific iPSC-derived in vitro models and identifies potential targets for improving diagnostic tools and therapeutic strategies in JOCD.
STEM CELLS TRANSLATIONAL MEDICINE
(2023)
Article
Genetics & Heredity
Bethany Vibert, Patricia Segura, Louise Gallagher, Stelios Georgiades, Panagiota Pervanidou, Audrey Thurm, Lindsay Alexander, Evdokia Anagnostou, Yuta Aoki, Catherine S. Birken, Somer L. Bishop, Jessica Boi, Carmela Bravaccio, Helena Brentani, Paola Canevini, Alessandra Carta, Alice Charach, Antonella Costantino, Katherine T. Cost, Elaine A. Cravo, Jennifer Crosbie, Chiara Davico, Federica Donno, Junya Fujino, Alessandra Gabellone, Cristiane T. Geyer, Tomoya Hirota, Stephen Kanne, Makiko Kawashima, Elizabeth Kelley, Hosanna Kim, Young Shin Kim, So Hyun Kim, Daphne J. Korczak, Meng-Chuan Lai, Lucia Margari, Lucia Marzulli, Gabriele Masi, Luigi Mazzone, Jane McGrath, Suneeta Monga, Paola Morosini, Shinichiro Nakajima, Antonio Narzisi, Rob Nicolson, Aki Nikolaidis, Yoshihiro Noda, Kerri Nowell, Miriam Polizzi, Joana Portolese, Maria Pia Riccio, Manabu Saito, Ida Schwartz, Anish K. Simhal, Martina Siracusano, Stefano Sotgiu, Jacob Stroud, Fernando Sumiya, Yoshiyuki Tachibana, Nicole Takahashi, Riina Takahashi, Hiroki Tamon, Raffaella Tancredi, Benedetto Vitiello, Alessandro Zuddas, Bennett Leventhal, Kathleen Merikangas, Michael P. Milham, Adriana Di Martino
Summary: The study examined the impact of the COVID-19 pandemic on youth with autism spectrum disorder and related neurodevelopmental disorders, revealing heterogeneity in symptoms and access to services. The findings can inform recovery efforts and emphasize the importance of international data-sharing and collaborations in addressing the needs of vulnerable populations during crises.
Review
Psychiatry
Ciara J. Molloy, Ciara Quigley, Aine McNicholas, Linda Lisanti, Louise Gallagher
Summary: The heritability of intelligence or general cognitive ability is estimated to be 41% and 66% in children and adults, respectively. Rare copy number variants (ND-CNV) are associated with neurodevelopmental and neuropsychiatric conditions and can contribute to the variability in cognitive ability. This review examines the impact of ND-CNV on intelligence and cognitive function in both general population and clinical cohorts, and identifies genotype-specific cognitive phenotypes. The findings show that ND-CNV have cognitive impacts across different populations, but more studies and larger sample sizes are needed to determine ND-CNV-specific effects.
TRANSLATIONAL PSYCHIATRY
(2023)
Editorial Material
Biochemistry & Molecular Biology
Siofra Heraty, Alexandra Lautarescu, David Belton, Alison Boyle, Pietro Cirrincione, Mary Doherty, Sarah Douglas, Jan Roderik Derk Plas, Katrien Van Den Bosch, Pierre Violland, Jerneja Tercon, Amber Ruigrok, Declan G. M. Murphy, Thomas Bourgeron, Christopher Chatham, Eva Loth, Bethany Oakley, Grainne M. Mcalonan, Tony Charman, Nicolaas Puts, Louise Gallagher, Emily J. H. Jones
Summary: A change in research culture is needed to improve the relationship between autistic people and the biomedical research community. Through participatory research, we can reject negative perceptions of autism and work towards a shared vision that embraces neurodiversity.
Article
Biochemistry & Molecular Biology
Hongye Zhang, Meimei Yang, Jianhua Zhang, Li Li, Tianyuan Guan, Jiaxin Liu, Xuanwei Gong, Fan Yang, Sanbing Shen, Min Liu, Yongfeng Han
Summary: Research shows that Stk36 and Ulk4 genes are crucial for cerebrospinal fluid flow and ciliogenesis. They interact with the Foxj1 transcription factor pathway to regulate ciliogenesis and cilia function, thus affecting cerebrospinal fluid flow.
Article
Oncology
Yi Pu, Lu Li, Haoning Peng, Lunxu Liu, Dominique Heymann, Caroline Robert, Francois Vallette, Shensi Shen
Summary: Drug-tolerant persister (DTP) cell populations have been discovered in antibiotic-resistant bacterial biofilms and have also been identified in cancer cells. They are linked with treatment resistance and targeting these cells may offer new treatment opportunities.
NATURE REVIEWS CLINICAL ONCOLOGY
(2023)
Review
Neurosciences
Ciara J. J. Molloy, Jennifer Cooke, Nicholas J. F. Gatford, Alejandro Rivera-Olvera, Sahar Avazzadeh, Judith R. R. Homberg, Joanes Grandjean, Cathy Fernandes, Sanbing Shen, Eva Loth, Deepak P. P. Srivastava, Louise Gallagher
Summary: This article reviews the multiple molecular pathways and cellular processes involved in the neurobiology of autism and other neurodevelopmental conditions. The focus is on synaptopathies, which are clinical conditions associated with rare genetic variants disrupting genes involved in synaptic biology. The NRXN-NLGN-SHANK pathway is discussed in detail, and insights from preclinical studies, cellular processes, neuroimaging, and clinical studies are presented. Despite challenges in translating preclinical research to human brain development and autism features, bridging the gap between preclinical and clinical studies is crucial for advancing targeted therapies for neurodevelopmental conditions.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Meeting Abstract
Oncology
Haoning Peng, Lu Li, Lunxu Liu, Shensi Shen
Meeting Abstract
Oncology
Hongxu Chen, Shensi Shen, Sara Faouzi, Alexia Alfaro, Dorothee Baille, Severine Roy, Naima Benannoune, Hugues Hermann, Samad Muhammadnejad, Stephan Vagner, Caroline Robert
Article
Psychiatry
K. Conlan, J. McGrath, M. Teeling, M. J. MacAvin, K. Bennett, L. Gallagher
Summary: This study examines the prescribing rates of antipsychotic drugs in the Irish pediatric and young adult population. The study also analyzes differences in prescribing rates based on age and sex. Findings reveal that a significant proportion of this population were prescribed antipsychotics, and there was an increase in co-prescribing of antidepressants.
IRISH JOURNAL OF PSYCHOLOGICAL MEDICINE
(2023)
