Article
Biochemistry & Molecular Biology
Kasun Buddika, Yi-Ting Huang, Ishara S. Ariyapala, Alex Butrum-Griffith, Sam A. Norrell, Alex M. O'Connor, Viraj K. Patel, Samuel A. Rector, Mark Slovan, Mallory Sokolowski, Yasuko Kato, Akira Nakamura, Nicholas S. Sokol
Summary: The study reveals that adult Drosophila intestinal stem cells contain P-bodies, and loss of P-bodies leads to the loss of stem cells and inappropriate expression of differentiation genes. Transcriptomic analysis identifies a P-body-dependent repression activity that coordinates with known transcriptional repression programs to maintain stem cells in a state primed for differentiation.
Review
Cell Biology
Alyssa Kearly, Andrew D. L. Nelson, Aleksandra Skirycz, Monika Chodasiewicz
Summary: Stress Granules (SGs) and Processing-bodies (P-bodies) are important biomolecular condensates that play crucial roles in maintaining mRNA balance and regulating stress responses. They are composed of proteins and RNAs involved in translation, protein folding, and energy metabolism.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2024)
Article
Biochemistry & Molecular Biology
Erinc Hallacli, Can Kayatekin, Sumaiya Nazeen, Xiou H. Wang, Zoe Sheinkopf, Shubhangi Sathyakumar, Souvarish Sarkar, Xin Jiang, Xianjun Dong, Roberto Di Maio, Wen Wang, Matthew T. Keeney, Daniel Felsky, Jackson Sandoe, Aazam Vahdatshoar, Namrata D. Udeshi, D. R. Mani, Steven A. Carr, Susan Lindquist, Philip L. De Jager, David P. Bartel, Chad L. Myers, J. Timothy Greenamyre, Mel B. Feany, Shamil R. Sunyaev, Chee Yeun Chung, Vikram Khurana
Summary: This study reveals the direct modulation of processing bodies by alpha-synuclein, which has significant implications for understanding the pathogenesis of Parkinson's disease. The research found that alpha-synuclein disrupts mRNA decay through interacting with multiple proteins, leading to the dysfunction of relevant pathways. Genetic modulation of P-body components can alter the toxicity of alpha-synuclein, providing a new direction for disease treatment.
Article
Developmental Biology
Madeline Cassani, Geraldine Seydoux
Summary: Specification of the germ line in Caenorhabditis elegans involves two independent cytoplasmic condensates that independently enrich and regulate maternal mRNAs, playing a crucial role in embryonic development.
Article
Plant Sciences
Sterling Field, William Craig Conner, Daniel M. Roberts
Summary: This study reveals that SGS3 is associated with stress granule-like structures during hypoxia stress, which are subject to degradation by CML38 and CDC48-dependent autophagy. Additionally, CML38 interacts directly with CDC48A, recruiting it to CML38 granules in plants.
FRONTIERS IN PLANT SCIENCE
(2021)
Article
Cell Biology
M. Sankaranarayanan, Ryan J. Emenecker, Elise L. Wilby, Marcus Jahnel, Irmela R. E. A. Trussina, Matt Wayland, Simon Alberti, Alex S. Holehouse, Timothy T. Weil
Summary: Ribonucleoprotein condensates can exhibit diverse physical states, with specific proteins, protein-protein interactions, and RNA regulating their properties. In this study, the physical properties of processing bodies (P bodies) in mature Drosophila oocytes were investigated, showing how the arrested state of P bodies supports mRNA storage and how egg activation modulates P body properties to release mRNA for translation in the early embryo. This work provides insight into how the physical states of condensates regulate cellular function in development.
DEVELOPMENTAL CELL
(2021)
Article
Biochemistry & Molecular Biology
William R. Brothers, Hana Fakim, Sam Kajjo, Marc R. Fabian
Summary: Processing bodies (P-bodies) are ribonucleoprotein granules that contain mRNAs, RNA-binding proteins and effectors of mRNA turnover. This study reveals that P-bodies can directly regulate mRNA turnover by interacting with mRNA decay enzymes and preventing them from degrading targeted mRNAs.
NUCLEIC ACIDS RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
William R. Brothers, Farah Ali, Sam Kajjo, Marc R. Fabian
Summary: The interaction between XRN1 and EDC4 regulates P-body dynamics to properly coordinate mRNA decapping with 5'-3' decay in human cells. Disrupting this interaction or altering their stoichiometry inhibits mRNA decapping and leads to larger P-bodies. P-bodies support cell viability and prevent stress granule formation when XRN1 is limiting.
Article
Cell Biology
Maximilian Wulf, Katalin Barkovits, Karin Schork, Martin Eisenacher, Peter Riederer, Manfred Gerlach, Britta Eggers, Katrin Marcus
Summary: Neuromelanin granules (NMGs) may play an important role in neurodegenerative processes, but their exact mechanism is not fully understood. DLB patients show evidence of ongoing oxidative damage and impaired protein degradation in NMG-surrounding tissue. Enrichment of specific proteins in NMGs suggests their involvement in pathogenesis, but further research is needed to determine the exact role of NMGs.
Article
Clinical Neurology
Hadjara Sidibe, Yousra Khalfallah, Shangxi Xiao, Nicolas B. Gomez, Hana Fakim, Elizabeth M. H. Tank, Genevieve Di Tomasso, Eric Bareke, Anais Aulas, Paul M. McKeever, Ze'ev Melamed, Laurie Destroimaisons, Jade-Emmanuelle Deshaies, Lorne Zinman, J. Alex Parker, Pascale Legault, Martine Tetreault, Sami J. Barmada, Janice Robertson, Christine Vande Velde
Summary: The study reveals that TDP-43 stabilizes G3BP1 transcripts, nuclear TDP-43 depletion is sufficient to reduce G3BP1 protein levels, and G3BP1 transcripts are reduced in neurons of ALS/FTD patients with TDP-43 cytoplasmic inclusions/nuclear depletion. These findings suggest that loss of function of TDP-43 and G3BP1 may contribute to ALS/FTD pathogenesis.
Article
Biochemistry & Molecular Biology
Andres H. Cardona, Szilvia Ecsedi, Mokrane Khier, Zhou Yi, Alia Bahri, Amira Ouertani, Florian Valero, Margaux Labrosse, Sami Rouquet, Stephane Robert, Agnes Loubat, Danielle Adekunle, Arnaud Hubstenberger
Summary: This study identifies a two-tiered mechanism that controls mRNA stoichiometries through phase-transition mechanisms. The mechanism allows mRNAs to self-assemble into condensates with buffering capacity and sorting selectivity, resulting in robust control of mRNA:mRNA and mRNA:protein stoichiometries.
Article
Microbiology
Mariel Kleer, Rory P. Mulloy, Carolyn-Ann Robinson, Danyel Evseev, Maxwell P. Bui-Marinos, Elizabeth L. Castle, Arinjay Banerjee, Samira Mubareka, Karen Mossman, Jennifer A. Corcoran
Summary: The nucleocapsid (N) protein of SARS-CoV-2 is capable of causing the disassembly of processing bodies (PBs), leading to an imbalanced immune response during severe coronavirus infections caused by SARS-CoV-2.
Review
Genetics & Heredity
Dylan M. Parker, Lindsay P. Winkenbach, Erin Osborne Nishimura
Summary: Cells spatially organize their molecular components to carry out biological processes and guide development. The spatial organization of RNA within the cell is related to gene expression control. Recent studies have shown diverse associations between RNA spatial patterning and translation control. Biomolecular condensates, such as germ granules and stress granules, have attracted particular interest. Transcripts associated with cytoplasmic biomolecular condensates are generally linked with low translation status, but new biomolecular condensates associated with active translation have been identified.
FRONTIERS IN GENETICS
(2022)
Review
Virology
Yingying Guo, John S. L. Parker
Summary: De novo viral protein synthesis is essential for viral replication inside host cells, requiring engagement with host translational machinery while evading host defenses. Mammalian orthoreoviruses, as dsRNA-containing viruses, have been used to study the mechanisms of recognition and interaction with eukaryotic mRNAs by host cell ribosomes, but many unanswered questions remain regarding their translation during infection.
Review
Cell Biology
Sunmathy Kanakamani, Padmanaban S. Suresh, Thejaswini Venkatesh
Summary: Processing bodies (PBs) are cytoplasmic messenger ribonucleoprotein particle granules involved in eukaryotic gene expression regulation. They are maintained by RNA-protein and protein-protein interactions and undergo dynamic changes in response to cellular cues, including viral infections. Some PB proteins are implicated in cancer development, but the effects of epigenetic modifications on cancer-associated PB genes on PB dynamics remain to be fully explored.
CELL BIOLOGY INTERNATIONAL
(2021)
Article
Genetics & Heredity
Jimmaline J. Hardy, Margot J. Wyrwoll, William Mcfadden, Agnieszka Malcher, Nadja Rotte, Nijole C. Pollock, Sarah Munyoki, Maria V. Veroli, Brendan J. Houston, Miguel J. Xavier, Laura Kasak, Margus Punab, Maris Laan, Sabine Kliesch, Peter Schlegel, Thomas Jaffe, Kathleen Hwang, Josip Vukina, Miguel A. Brieno-Enriquez, Kyle Orwig, Judith Yanowitz, Michael Buszczak, Joris A. Veltman, Manon Oud, Liina Nagirnaja, Marta Olszewska, Moira K. O'Bryan, Donald F. Conrad, Maciej Kurpisz, Frank Tuettelmann, Alexander N. Yatsenko
Summary: Male infertility impacts millions of couples, with the etiology largely unknown. A genomic study on spermatogenic failure identified potentially significant single-nucleotide variants in the GCNA gene. These variants disrupt protein domains critical for genome integrity, potentially causing germ-cell division arrest.
Article
Medicine, Research & Experimental
Marta Olszewska, Ewa Wiland, Elzbieta Wanowska, Nataliya Huleyuk, Vyacheslav B. Chernykh, Danuta Zastavna, Maciej Kurpisz
Summary: Robertsonian translocation involves the fusion of the long arms of two acrocentric chromosomes, causing reproductive failure and an increased level of sperm chromosome aneuploidy. Each carrier shows elevated aneuploidy in at least one analyzed chromosome, with interchromosomal effects observed in rare RobTs.
POSTEPY HIGIENY I MEDYCYNY DOSWIADCZALNEJ
(2021)
Article
Environmental Sciences
Kamil Gill, Michal Kups, Patryk Harasny, Tomasz Machalowski, Marta Grabowska, Mariusz Lukaszuk, Marcin Matuszewski, Ewa Duchnik, Monika Fraczek, Maciej Kurpisz, Malgorzata Piasecka
Summary: The study found a significant relationship between varicocele and semen characteristics, sperm DNA integrity, and oxidative stress in infertile men, indicating that varicocele can affect sperm quality. Infertile men exhibited lower standard semen parameters, higher SDF, and ORP levels, suggesting potential disorders of spermatogenesis in varicocele-related infertility.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Biochemistry & Molecular Biology
Marta Olszewska, Oliwia Kordyl, Marzena Kamieniczna, Monika Fraczek, Piotr Jedrzejczak, Maciej Kurpisz
Summary: Epigenetic modifications, specifically methylation and hydroxymethylation, are associated with sperm chromatin protamination. The levels of these modifications are diversified in different populations of males and may be related to sperm motility and morphology. Measuring the 5mC/5hmC status of sperm DNA may serve as a prognostic marker for reproductive failure.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Reproductive Biology
Karolina Nowicka-Bauer, Agnieszka Malcher, Olga Wloczkowska, Marzena Kamieniczna, Marta Olszewska, Maciej Krzysztof Kurpisz
Summary: This study discovered the absence of HSPA2 protein in seminal plasma of azoospermic males, while results were highly diversified in cryptozoospermia. Additionally, the application of 2-dimensional gel electrophoresis suggested the presence of additional protein isoforms, potentially underlying male infertility.
REPRODUCTIVE BIOLOGY
(2022)
Article
Environmental Sciences
Monika Fraczek, Angelika Lewandowska, Marta Budzinska, Marzena Kamieniczna, Lukasz Wojnar, Kamil Gill, Malgorzata Piasecka, Michal Kups, Anna Havrylyuk, Valentina Chopyak, Jozef Nakonechnyy, Andrij Nakonechnyy, Maciej Kurpisz
Summary: This study investigated the relationship between seminal oxidative stress markers and ejaculated sperm chromatin/DNA integrity in men exposed to prolonged scrotal hyperthermia. The results showed that men exposed to genital heat stress had greater disturbances in the oxidative stress scavenging system and a higher proportion of sperm with DNA fragmentation compared to fertile men. This study revealed the co-existence of oxidative stress and sperm DNA damage in the semen of professional drivers for the first time.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Genetics & Heredity
J. Hardy, N. Pollock, T. Gingrich, P. Sweet, A. Ramesh, J. Kuong, A. Basar, H. Jiang, K. Hwang, J. Vukina, T. Jaffe, M. Olszewska, M. Kurpisz, A. N. Yatsenko
Summary: We identified clinically significant genomic copy number and single nucleotide variants in males with unexplained spermatogenic failure using a combined genome-wide analysis technique. This finding is important for the diagnosis and treatment of complex conditions like male infertility.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Andrology
Agnieszka Malcher, Tomasz Stokowy, Andrea Berman, Marta Olszewska, Piotr Jedrzejczak, Dawid Sielski, Adam Nowakowski, Natalia Rozwadowska, Alexander N. Yatsenko, Maciej K. Kurpisz
Summary: In this study, low-frequency single nucleotide variants (SNVs) associated with spermatogenetic failure in patients with nonobstructive azoospermia (NOA) were identified using whole-genome sequencing (WGS). Novel potential candidate NOA-associated genes were found, and the WGS analysis successfully revealed NOA-associated gene findings in patients who did not have potentially causative variants detected through whole-exome sequencing (WES) analysis.
Article
Biochemistry & Molecular Biology
Kamil Gill, Tomasz Machalowski, Patryk Harasny, Michal Kups, Marta Grabowska, Ewa Duchnik, Olimpia Sipak, Monika Fraczek, Maciej Kurpisz, Rafal Kurzawa, Malgorzata Piasecka
Summary: Our research aimed to verify the relationship between male infertility, sperm morphology, sperm DNA fragmentation (SDF), oxidation-reduction potential (ORP) in semen, and leukocytospermia. The results showed that infertile groups had lower semen characteristics and higher SDF, ORP levels than fertile controls. The risk for SDF and ORP were significantly higher in infertile groups. Surprisingly, leukocytospermic subjects had lower ORP levels and lower risk for high ORP than leukocytospermic-negative men. These findings suggest a relationship between male infertility, SDF, and oxidative stress, and the assessment of SDF and oxidative stress should be independent of leukocytospermia.
Editorial Material
Cell Biology
Maciej Kurpisz
Article
Genetics & Heredity
Sidra Qureshi, Jimmaline J. Hardy, Christopher Pombar, Andrea J. Berman, Agnieszka Malcher, Tara Gingrich, Rachel Hvasta, Jannah Kuong, Sarah Munyoki, Kathleen Hwang, Kyle E. Orwig, Jawad Ahmed, Marta Olszewska, Maciej Kurpisz, Donald F. Conrad, Muhammad Jaseem Khan, Alexander N. Yatsenko
Summary: Human spermatogenesis is a complex process that involves thousands of testis-specific genes. Defects in these genes can have detrimental effects on sperm production. This study identified and reported novel variants in the testis-expressed gene 15 (TEX15) that are associated with spermatogenic failure. The study also found a high frequency of TEX15 variants in patients with spermatogenic failure.
FRONTIERS IN GENETICS
(2023)
Review
Andrology
Amadeusz Odroniec, Marta Olszewska, Maciej Kurpisz
Summary: Spermatogenesis is the process of generating male reproductive cells from spermatogonial stem cells in the testis epithelium. Epigenetic modifications of DNA and histones play a crucial role in controlling various spermatogenic events, such as stem cell self-renewal, meiotic recombination, and chromatin remodeling. The review summarizes the important epigenetic modifications occurring during different stages of germ cell development, starting from primordial germ cells during embryonal development and ending with histone-to-protamine transition during spermiogenesis.
BASIC AND CLINICAL ANDROLOGY
(2023)
Article
Multidisciplinary Sciences
Xinbao Ding, Priti Singh, Kerry Schimenti, Tina N. Tran, Robert Fragoza, Jimmaline Hardy, Kyle E. Orwig, Marta Olszewska, Maciej K. Kurpisz, Alexander N. Yatsenko, Donald F. Conrad, Haiyuan Yu, John C. Schimenti
Summary: Infertility is a heterogeneous condition that can be caused by genetic factors. Genome sequencing is important for genetic diagnosis, but most rare variants found in patients have uncertain significance. Researchers evaluated the effects of these variants in key fertility genes using genome-edited mouse models and found that the predictions made by widely used algorithms were not accurate. Therefore, alternative and efficient functional validation models are needed.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Marta Olszewska, Oliwia Kordyl, Agnieszka Kralska, Marzena Kamieniczna, Piotr Jedrzejczak, Maciej Kurpisz
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Kumaresan Ramanathan, Minale Fekadie, Giri Padmanabhan, Henok Gulilat
Summary: Long noncoding RNAs (lncRNAs) play critical roles in kidney disease development and their dysregulation can lead to various disease processes. Understanding the function and potential application of lncRNAs in kidney disease may provide new diagnostic and therapeutic opportunities. This review provides an overview of lncRNA characteristics, function, and specific studies related to kidney disease treatment.
CELL BIOCHEMISTRY AND FUNCTION
(2024)
