Article
Biochemistry & Molecular Biology
Shuai Wang, Hongjie Qiao, Pengxiang Wang, Yuan Wang, Danian Qin
Summary: Zdhhc19 knockout mice did not show disruption in spermatogenesis but exhibited male infertility with defects in sperm morphology and functions, highlighting the essential role of Zdhhc19 in sperm production and fertility in mice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Boryeong Pak, Chris E. Schmitt, Sera Oh, Jun-Dae Kim, Woosoung Choi, Orjin Han, Minjung Kim, Myoung-Jin Kim, Hyung-Jin Ham, Shanghyeon Kim, Tae-Lin Huh, Jae-Il Kim, Suk-Won Jin
Summary: The Pax9 gene plays a crucial role in hematopoiesis in zebrafish, particularly in granulopoiesis. Loss of the pax9 gene results in decreased neutrophil numbers, affects immune responses, and increases susceptibility and mortality in embryos.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Article
Biochemistry & Molecular Biology
Yumei Jia, Zhaoyuan Guo, Jiahao Zhu, Guanyu Qin, Wenwen Sun, Yu Yin, Haiying Wang, Renpeng Guo
Summary: The study shows that Snap29 plays a crucial role in the self-renewal and differentiation of mouse ESCs. Depletion of Snap29 does not affect the self-renewal and pluripotency-associated factor expression in ESCs, but enhances their differentiation into cardiomyocytes. Transcriptome analysis reveals that Snap29 deficiency significantly decreases the expression of genes required for germ layer differentiation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Lu Qiao, So Hee Dho, Ji Young Kim, Lark Kyun Kim
Summary: SEPHS1 plays a minor role in maintaining pluripotency in mouse embryonic stem cells (ESCs), but is crucial for germ layer differentiation, especially for functional cardiac lineage.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Cell Biology
Chang Sun, Yuan Qi, Natalie Fowlkes, Nina Lazic, Xiaoping Su, Guillermina Lozano, Amanda R. Wasylishen
Summary: Daxx functions as a histone chaperone for the histone H3 variant H3.3 and is essential for embryonic development. It interacts with Atrx to deposit H3.3 into heterochromatin, and this interaction is dispensable for viability. However, the interaction between Daxx and H3.3 is essential for postnatal viability and is important for silencing endogenous retroviruses and maintaining proper immune cell composition.
CELL DEATH & DISEASE
(2023)
Article
Developmental Biology
Jing-Yi Qiao, Qian Zhou, Ke Xu, Wei Yue, Wen-Long Lei, Yuan-Yuan Li, Lin-Jian Gu, Ying-Chun Ouyang, Yi Hou, Heide Schatten, Tie-Gang Meng, Zhen-Bo Wang, Qing-Yuan Sun
Summary: In this study, the role of Mad2 in meiotic oocytes was investigated using a mouse-specific knockout approach. It was found that Mad2-deficient oocytes exhibited an accelerated metaphase-to-anaphase transition, caused by premature degradation of securin and cyclin B1. However, the knockout mice were still fertile and the resulting oocytes were euploid. Further studies showed that Mad2 acts to mitigate environmental stress in meiotic oocytes and its absence led to chromosome misalignment, lagging chromosomes, aneuploidy, and premature separation of sister chromatids, particularly when matured in vitro at a lower temperature.
Article
Cell & Tissue Engineering
Deepanwita Pal, Scott M. Riester, Bashar Hasan, Sara F. Tufa, Amel Dudakovic, Douglas R. Keene, Andre J. van Wijnen, Ronen Schweitzer
Summary: This passage discusses the role of epigenetic modifiers in musculoskeletal system development, with a focus on the impact of Ezh2 on tendon and muscle patterning. The study reveals that early mesenchymal cues mediated by Ezh2 play a crucial role in coordinating the development of all tissues in the musculoskeletal system.
STEM CELLS AND DEVELOPMENT
(2021)
Article
Endocrinology & Metabolism
Xue Jiang, Xiaoli Zhu, Yu Cheng, Muhammad Azhar, Xuemei Xing, Wenqing Li, Yuzhu Cao, Qinghua Shi, Jianqiang Bao
Summary: This study identified a new epigenetic player named Spindoc that is essential for haploid spermatid development, but not necessary for meiotic divisions in spermatocytes. This discovery sheds light on the role of Spindoc in germline development and its interaction with Spin1 in modulating downstream signaling.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2021)
Article
Multidisciplinary Sciences
Shuiqiao Yuan, Zhuqing Wang, Hongying Peng, Sean M. Ward, Grant W. Hennig, Huili Zheng, Wei Yan
Summary: The motile cilia in the infundibulum of the oviduct are essential for picking up ovulated oocytes and female fertility, while motile cilia in other parts facilitate gamete and embryo transport but are not absolutely required for female fertility.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Chemistry, Multidisciplinary
Xuyan He, Chaodong Ge, Jun Xia, Zhidan Xia, Lu Zhao, Sicong Huang, Rong Wang, Jianwei Pan, Tao Cheng, Peng-Fei Xu, Fudi Wang, Junxia Min
Summary: SLC39A10 is identified as a key zinc transporter in hematopoiesis, and it plays a larger role than iron in early hematopoietic stem cells. Loss of Slc39a10 causes zinc deficiency, leading to DNA damage, apoptosis, and cell cycle arrest. Zinc supplementation and inhibiting necroptosis were found to restore hematopoiesis, suggesting the potential of SLC39A10 as a therapeutic target for anemia and zinc deficiency-related disorders.
Review
Cell Biology
Wen Hao Neo, Michael Lie-A-Ling, Muhammad Zaki Hidayatullah Fadlullah, Georges Lacaud
Summary: During ontogeny, the establishment of the hematopoietic system occurs in different phases, from the yolk sac to the main arteries of the embryo. It has been discovered that yolk sac cells, initially thought to only bridge the gap to hematopoietic stem cells (HSCs), also play a role in embryonic organogenesis. Some of these cells persist into adulthood as distinct hematopoietic populations, opening up a new area of research.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Ringaile Zaksauskaite, Ruth C. Thomas, Freek van Eeden, Sherif F. El-Khamisy
Summary: Deficiency in the DNA end-processing enzyme, tyrosyl-DNA phosphodiesterase 1 (TDP1), causes progressive neurodegeneration in humans. However, the tdp1(-/-) zebrafish embryo does not require TDP1 to protect from Top1-DNA damage, instead relying on apex2 and ercc4 (xpf) as putative players fulfilling this role. This highlights the need for distinct DNA repair factors across the life span of vertebrates.
Article
Cell Biology
Norin Chaudhry, Margaux Sica, Satya Surabhi, David Sanchez Hernandez, Ana Mesquita, Adem Selimovic, Ayesha Riaz, Laury Lescat, Hua Bai, Gustavo C. Macintosh, Andreas Jenny
Summary: The endolysosomal system plays a crucial role in cellular catabolism, nutrient recycling, and energy sensing. In this study, the previously uncharacterized Drosophila Lamp1 was found to have distinct functions compared to its vertebrate orthologs. Lamp1 deficiency in flies led to an increase in acidic organelles and defects in lipid metabolism.
Letter
Oncology
Lulu Liu, Yanjia Fang, Xiaodan Ding, Weihua Zhou, Remi Terranova, Yan Zhang, He Wang
Summary: By using a hematopoietic-specific Wdr5 knockout mouse model, we found that the loss of Wdr5 leads to embryonic lethality and impairs the function of hematopoietic stem and progenitor cells. Additionally, it may alter the immunophenotype of these cells by decreasing c-Kit expression. Overall, we identified the crucial role of Wdr5 in fetal hematopoiesis and erythropoiesis as novel findings.
EXPERIMENTAL HEMATOLOGY & ONCOLOGY
(2023)
Article
Genetics & Heredity
Margot J. Wyrwoll, Channah M. Gaasbeek, Ieva Golubickaite, Rytis Stakaitis, Manon S. Oud, Liina Nagirnaja, Camille Dion, Emad B. Sindi, Harry G. Leitch, Channa N. Jayasena, Anu Sironen, Ann-Kristin Dicke, Nadja Rotte, Birgit Stallmeyer, Sabine Kliesch, Carlos H. P. Grangeiro, Thais S. F. Araujo, Paul Lasko, Kathleen D'Hauwers, Roos M. Smits, Liliana Ramos, Miguel J. Xavier, Don F. Conrad, Kristian Almstrup, Joris A. Veltman, Frank Tuettelmann, Godfried W. van der Heijden
Summary: FKBP6 variants are associated with male infertility, leading to impaired testicular development and sperm production. Patients with loss-of-function variants in FKBP6 have very few or no sperm in their ejaculate, making them ineligible for assisted reproductive techniques. FKBP6 plays an important role in piRNA biogenesis in humans.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Multidisciplinary Sciences
Shimaa H. A. Soliman, Aaron E. Stark, Miranda L. Gardner, Sean W. Harshman, Chelssie C. Breece, Foued Amari, Arturo Orlacchio, Min Chen, Anna Tessari, Jennifer A. Martin, Rosa Visone, Michael A. Freitas, Krista M. D. La Perle, Dario Palmieri, Vincenzo Coppola
SCIENTIFIC REPORTS
(2020)
Article
Oncology
Janek S. Walker, Zachary A. Hing, Bonnie Harrington, Jordan Baumhardt, Hatice Gulcin Ozer, Amy Lehman, Brian Giacopelli, Larry Beaver, Katie Williams, Jordan N. Skinner, Casey B. Cempre, Qingxiang Sun, Sharon Shacham, Benjamin R. Stromberg, Matthew K. Summers, Lynne Abruzzo, Laura Rassenti, Thomas J. Kipps, Sameer Parikh, Neil E. Kay, Kerry A. Rogers, Jennifer A. Woyach, Vincenzo Coppola, Yuh Min Chook, Christopher Oakes, John C. Byrd, Rosa Lapalombella
Summary: Mutations in XPO1 at E571 are associated with high-risk genetic and epigenetic features as well as accelerated progression in CLL. Overexpression of wt or mutant XPO1 in B cells can impact the development of CLL-like disease in aged mice. Concurrent expression of XPO1 with E571K or E571G mutations and TCL1 accelerates leukemogenesis.
JOURNAL OF HEMATOLOGY & ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
Kevin M. Huang, Megan Zavorka Thomas, Tarek Magdy, Eric D. Eisenmann, Muhammad Erfan Uddin, Duncan F. DiGiacomo, Alexander Pan, Markus Keiser, Marcus Otter, Sherry H. Xia, Yang Li, Yan Jin, Qiang Fu, Alice A. Gibson, Ingrid M. Bonilla, Cynthia A. Carnes, Kara N. Corps, Vincenzo Coppola, Sakima A. Smith, Daniel Addison, Anne T. Nies, Ralf Bundschuh, Taosheng Chen, Maryam B. Lustberg, Joanne Wang, Stefan Oswald, Moray J. Campbell, Pearlly S. Yan, Sharyn D. Baker, Shuiying Hu, Paul W. Burridge, Alex Sparreboom
Summary: By studying the critical transporter OCT3 for doxorubicin accumulation in the heart, researchers have revealed the mechanism of doxorubicin-induced cardiotoxicity, providing a theoretical basis for a targeted intervention strategy to prevent this side effect.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Oncology
Benjamin B. Morris, Nolan A. Wages, Patrick A. Grant, P. Todd Stukenberg, Ryan D. Gentzler, Richard D. Hall, Wallace L. Akerley, Thomas K. Varghese, Susanne M. Arnold, Terence M. Williams, Vincenzo Coppola, David R. Jones, David T. Auble, Marty W. Mayo
Summary: Evidence suggests that many patients with lung adenocarcinoma exhibit significant genome instability and overexpress the transcription factor MYBL2, which is associated with poor prognostic outcomes and potential disruption of DNA repair pathways.
FRONTIERS IN ONCOLOGY
(2021)
Article
Endocrinology & Metabolism
Yaoling Shu, Faizule Hassan, Vincenzo Coppola, Kedryn K. Baskin, Xianlin Han, Neil K. Mehta, Michael C. Ostrowski, Kamal D. Mehta
Summary: Protein kinase C beta (PKC beta) plays a critical role in energy metabolism and adaptation to environmental and nutritional stimuli, particularly in the development of hepatic steatosis induced by high-fat diet. The hepatocyte-specific PKC beta deficiency offers protection against hepatic steatosis without affecting insulin sensitivity.
MOLECULAR METABOLISM
(2021)
Article
Multidisciplinary Sciences
Georgios I. Laliotis, Evangelia Chavdoula, Maria D. Paraskevopoulou, Abdul Kaba, Alessandro La Ferlita, Satishkumar Singh, Vollter Anastas, Keith A. Nair, Arturo Orlacchio, Vasiliki Taraslia, Ioannis Vlachos, Marina Capece, Artemis Hatzigeorgiou, Dario Palmieri, Christos Tsatsanis, Salvatore Alaimo, Lalit Sehgal, David P. Carbone, Vincenzo Coppola, Philip N. Tsichlis
Summary: AKT-phosphorylated IWS1 regulates alternative RNA splicing in lung cancer, leading to the growth of lung adenocarcinomas via a Sororin/ERK-dependent pathway. The activity of this pathway is associated with clinical characteristics and prognosis of the tumors.
NATURE COMMUNICATIONS
(2021)
Article
Multidisciplinary Sciences
Janek S. Walker, Zachary A. Hing, Steven Sher, James Cronin, Katie Williams, Bonnie Harrington, Jordan N. Skinner, Casey B. Cempre, Charles T. Gregory, Alexander Pan, Max Yano, Larry P. Beaver, Brandi R. Walker, Jadwiga M. Labanowska, Nyla A. Heerema, Krzysztof Mrozek, Jennifer A. Woyach, Amy S. Ruppert, Amy Lehman, Hatice Gulcin Ozer, Vincenzo Coppola, Pearlly Yan, John C. Byrd, James S. Blachly, Rosa Lapalombella
Summary: Some balanced translocations can drive tumourigenesis, with MTCP1 identified as a driver gene in chronic lymphocytic leukemia. Overexpression of MTCP1 in mice leads to disease, highlighting the importance of genetic interrogation to identify cancer-driving genes. Discovery of MTCP1's role in CLL pathogenesis reinforces the need for further investigation of rare, recurrent balanced translocations.
NATURE COMMUNICATIONS
(2021)
Article
Biology
Georgios I. Laliotis, Adam D. Kenney, Evangelia Chavdoula, Arturo Orlacchio, Abdul Kaba, Alessandro La Ferlita, Vollter Anastas, Christos Tsatsanis, Joal D. Beane, Lalit Sehgal, Vincenzo Coppola, Jacob S. Yount, Philip N. Tsichlis
Summary: AKT-phosphorylated IWS1 promotes the alternative splicing of U2AF2, leading to regulation of mRNA nuclear export, including those encoding Type I interferons. This pathway affects sensitivity to multiple cytolytic virus infections, and may serve as a potential therapeutic target in cancer treatment.
COMMUNICATIONS BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Brandon M. Murphy, Elizabeth M. Terrell, Venkat R. Chirasani, Tirzah J. Weiss, Rachel E. Lew, Andrea M. Holderbaum, Aastha Dhakal, Valentina Posada, Marie Fort, Michael S. Bodnar, Leiah M. Carey, Min Chen, Craig J. Burd, Vincenzo Coppola, Deborah K. Morrison, Sharon L. Campbell, Christin E. Burd
Summary: In this study, the authors use conditional mouse models to investigate the molecular mechanisms underlying the enrichment of specific NRAS mutants in human melanoma. They find that different tumor types exhibit distinct profiles of NRAS mutants, suggesting mutagenic events or functional differences may contribute to the profiles. The study also identifies molecular interactions that enhance the binding affinity of melanomagenic NRAS mutants and their signaling pathways.
NATURE COMMUNICATIONS
(2022)
Meeting Abstract
Hematology
Lynda Villagomez, Porsha Smith, Fengting Yan, Victor Chen, Shelby Sloan, John T. Patton, Mackenzie Long, Fiona Brown, Elshafa H. Ahmed, Natarajan Muthusamy, Vincenzo Coppola, Anjali Mishra, Kris Vaddi, Peggy Scherle, Rosa Lapalombella, Lapo Alinari, Robert A. Baiocchi
Article
Multidisciplinary Sciences
Zachary A. Hing, Janek S. Walker, Ethan C. Whipp, Lindsey Brinton, Matthew Cannon, Pu Zhang, Steven Sher, Casey B. Cempre, Fiona Brown, Porsha L. Smith, Claudio Agostinelli, Stefano A. Pileri, Jordan N. Skinner, Katie Williams, Hannah Phillips, Jami Shaffer, Larry P. Beaver, Alexander Pan, Kyle Shin, Charles T. Gregory, Gulcin H. Ozer, Selen A. Yilmaz, Bonnie K. Harrington, Amy M. Lehman, Lianbo Yu, Vincenzo Coppola, Pearlly Yan, Peggy Scherle, Min Wang, Philip Pitis, Chaoyi Xu, Kris Vaddi, Selina Chen-Kiang, Jennifer Woyach, James S. Blachly, Lapo Alinari, Yiping Yang, John C. Byrd, Robert A. Baiocchi, Bradley W. Blaser, Rosa Lapalombella
Summary: PRMT5 plays an important role in the progression of CLL to Richter transformation, and the PRMT5 inhibitor PRT382 shows potential therapeutic value.
NATURE COMMUNICATIONS
(2023)
Review
Oncology
Graziantonio Lauria, Rosita Curcio, Paola Lunetti, Stefano Tiziani, Vincenzo Coppola, Vincenza Dolce, Giuseppe Fiermonte, Amer Ahmed
Summary: Pancreatic ductal adenocarcinoma (PDAC) extensively rewires its metabolism to utilize glucose and glutamine for nucleotide and protein synthesis, lipid synthesis, and redox homeostasis. Several mitochondrial transporters play a crucial role in this metabolic rewiring, and targeting them may be a potential strategy for combating PDAC.
Article
Biochemistry & Molecular Biology
Ruggiero Gorgoglione, Roberta Seccia, Amer Ahmed, Angelo Vozza, Loredana Capobianco, Alessia Lodi, Federica Marra, Eleonora Paradies, Luigi Palmieri, Vincenzo Coppola, Vincenza Dolce, Giuseppe Fiermonte
Summary: The human mitochondrial carrier family (MCF) consists of 53 members, with approximately one-fifth of them still lacking functional characterization. Most mitochondrial transporters have been studied by reconstituting the expressed protein into liposomes and performing transport assays. However, the availability of radiolabeled substrates limits the efficacy of this experimental approach. In this study, a yeast cell model was developed to identify the hypothetical mammalian mitochondrial N-acetylglutamate (NAG) transporter.
Article
Biochemistry & Molecular Biology
Marina Capece, Anna Tessari, Joseph Mills, Gian Luca Rampioni Vinciguerra, Darian Louke, Chenyu Lin, Bryan K. McElwain, Wayne O. Miles, Vincenzo Coppola, Alexander E. Davies, Dario Palmieri, Carlo M. Croce
Summary: The discrimination of protein biological functions in different phases of the cell cycle is limited by current experimental approaches. The article introduces a new AID system, which combines cell synchronization techniques to down regulate protein levels in specific cell cycle phases for studying the differential roles of target proteins.
CELL DEATH AND DIFFERENTIATION
(2023)
Meeting Abstract
Oncology
Janek S. Walker, Zachary A. Hing, Steven Sher, James Cronin, Katie Williams, Bonnie Harrington, Jordan N. Skinner, Casey B. Cempre, Charles T. Gregory, Max Yano, Larry P. Beaver, Brandi R. Walker, Jadwiga M. Labanowska, Nyla A. Heerema, Krzysztof Mrozek, Jennifer A. Woyach, Amy S. Ruppert, Amy Lehman, Hatice Gulcin Ozer, Vincenzo Coppola, John C. Byrd, James S. Blachly, Rosa Lapalombella