Research Paper

Genetic Counseling: Families’ experiences accessing care after genomic sequencing in the pediatric cancer context: “It’s just been a big juggle” (Tomlinson)

January 18, 2024

Blake Vuocolo, Amanda M. Gutierrez, Jill O. Robinson, Alva M. Recinos, Lauren R. Desrosiers, Mary A. Majumder, Juan Carlos Bernini, Jonathan Gill, Timothy Griffin, Gail E. Tomlinson, Kelly Vallance, Amy L. McGuire, D. Williams Parsons, Sharon E. Plon, Sarah Scollon Abstract Access to genomic sequencing (GS) and resulting recommendations have not been well described in pediatric oncology. GS results may provide a cancer predisposition syndrome (CPS) diagnosis that warrants [...]

Cell Reports: The FANCI/FANCD2 complex links DNA damage response to R-loop regulation through SRSF1-mediated mRNA export (Sung & Lab)

January 17, 2024

Anne Olazabal-Herrero 1 2, Boxue He 3 4, Youngho Kwon 3, Abhishek K. Gupta 2, Arijit Dutta 3, Yuxin Huang 3, Prajwal Boddu 2, Zhuobin Liang 5, Fengshan Liang 1 2, Yaqun Teng 6 7, Li Lan 6 7, Xiaoyong Chen 8, Huadong Pei 9, Manoj M. Pillai 2, Patrick Sung 3, Gary M. Kupfer 1 10 Show more Highlights RSF1 activates the FA pathway by binding and stimulating FANCD2 ubiquitination ANCD2 ubiquitination is crucial for the formation of NXF1-SRSF1 export complex ANCD2 monoubiquitination is critical for NXF1-mediated mRNA export RSF1 cancer mutants fail to bind FANCD2 and NXF1, leading to inefficient mRNA export Summary Fanconi anemia (FA) [...]

Scientific Reports: A CIC-related-epigenetic factors-based model associated with prediction, the tumor microenvironment and drug sensitivity in osteosarcoma (Kitagawa Lab)

January 16, 2024

Bin Yu, Chengkui Geng, Zhongxiong Wu, Zhongzi Zhang, Aili Zhang, Ze Yang, Jiazheng Huang, Ying Xiong, Huiqin Yang & Zhuoyuan Chen Abstract Osteosarcoma is generally considered a cold tumor and is characterized by epigenetic alterations. Although tumor cells are surrounded by many immune cells such as macrophages, T cells may be suppressed, be inactivated, or not [...]

Cell Reports: TREX2 deficiency suppresses spontaneous and genotoxin-associated mutagenesis (Vaseva Lab, Sung)

January 12, 2024

Teresa Marple 1 4 8, Mi Young Son 1 2 5 8, Xiaodong Cheng 1 6, Jun Ho Ko 1 7, Patrick Sung 2 3 4, Paul Hasty 1 3 5 9 Highlights The 3′-5′ exonuclease TREX2 causes spontaneous mutations in cells TREX2 causes mutations in cells exposed to a range of genotoxins TREX2 causes spontaneous mutations in MMR-deleted cells Deletion of TREX2 and MMR has a synthetic effect on DNA replication Summary TREX2, a 3′-5′ exonuclease, is a part of the DNA damage tolerance (DDT) [...]

MDPI Cells: Survivin-Sodium Iodide Symporter Reporter as a Non-Invasive Diagnostic Marker to Differentiate Uterine Leiomyosarcoma from Leiomyoma (Bishop Lab)

January 10, 2024

Natalia Garcia 1,2,†,Mara Ulin 1,3,†,Qiwei Yang 1,4ORCID,Mohamed Ali 1,4,5ORCID,Maarten C. Bosland 6,Weiqiao Zeng 1,Liaohai Chen 1 andAyman Al-Hendy 1,4, Abstract Leiomyosarcoma (LMS) has been challenging to diagnose because of limitations in clinical and radiographic predictors, as well as the lack of reliable serum or urinary biomarkers. Most uterine masses consist of benign leiomyoma (LM). However, [...]

Scientific Reports: Associations of tissue damage induced inflammatory plasticity in masseter muscle with the resolution of chronic myalgia (Lai)

January 4, 2024

Abstract Gene plasticity during myogenous temporomandibular disorder (TMDM) development is largely unknown. TMDM could be modeled by intramuscular inflammation or tissue damage. To model inflammation induced TMDM we injected complete Freund’s adjuvant (CFA) into masseter muscle (MM). To model tissue damage-induced TMDM, we injected extracellular matrix-degrading collagenase type 2 (Col). CFA and Col produced distinct [...]

Nucleic Acids Research: The protein phosphatase EYA4 promotes homologous recombination (HR) through dephosphorylation of tyrosine 315 on RAD51 (Sung Lab)

December 14, 2023

Bárbara de la Peña Avalos, Nicolas Paquet, Romain Tropée, Yan Coulombe, Hannah Palacios, Justin W Leung, Jean-Yves Masson, Pascal H G Duijf, Eloïse Dray Abstract Efficient DNA repair and limitation of genome rearrangements rely on crosstalk between different DNA double-strand break (DSB) repair pathways and their synchronization with the cell cycle. The selection, timing, and efficacy of DSB repair pathways are influenced by post-translational modifications of histones and [...]

Molecular Cell: SRSF2 Plays an Unexpected Role as Reader of m5C on mRNA, Linking Epitranscriptomics to Cancer (Gupta)

December 7, 2023

Hai-Li Ma 1 14, Martin Bizet 1 14, Christelle Soares Da Costa 1 14, Frédéric Murisier 1, Eric James de Bony 1 8, Meng-Ke Wang 2, Akihide Yoshimi 3 9, Kuan-Ting Lin 7, Kristin M. Riching 4, Xing Wang 2, John I. Beckman 5, Shailee Arya 5, Nathalie Droin 6, Emilie Calonne 1, Bouchra Hassabi 1, Qing-Yang Zhang 2 10, Ang Li 2 11, Pascale Putmans 1, Lionel Malbec 1, Céline Hubert 1…François Fuks 1 15 Highlights SRSF2 preferentially binds m5C-marked mRNA, whereas SRSF2P95H mutant impairs binding NSUN2 depletion reduces mRNA m5C levels and alters SRSF2 RNA binding and splicing NSUN2 loss and SRSF2P95H alter SRSF2 binding to key leukemia-related transcripts In leukemia patients, low NSUN2 levels and SRSF2P95H mutation predict poor outcomes. Summary A common mRNA [...]

Cold Spring Harbor, Spatial-Live: A lightweight and versatile tool for single cell spatial-omics data visualization (Chen, Zheng, Lai)

December 5, 2023

Zhenqing Ye, Zhao Lai, Siyuan Zheng, Yidong Chen Abstract Single-cell spatial-omics data visualization plays a pivotal role in unraveling the intricate spatial organization and heterogeneity of cellular systems. Although various software tools and packages have been developed for this purpose, challenges persist in terms of user-friendly accessibility, data integration, and interactivity. In this study, we introduce Spatial-Live, a lightweight and versatile viewer tool designed [...]

Molecular and Cellular Biology: A SNAI2/CTCF Interaction is Required for NOTCH1 Expression in Rhabdomyosarcoma (Ignatius Lab)

December 1, 2023

Prethish Sreenivas,Long Wang,Meng Wang,Anil Challa,Paulomi Modi,Nicole Rae Hensch,Berkley Gryder,Hsien-Chao Chou,Xiang R. Zhao,Benjamin Sunkel,Rodrigo Moreno-Campos,Javed Khan,Benjamin Z. Stanton & Myron S. Ignatius Abstract Rhabdomyosarcoma (RMS) is a pediatric malignancy of the muscle with characteristics of cells blocked in differentiation. NOTCH1 is an oncogene promoting self-renewal and blocking differentiation in the fusion negative-RMS sub-type. However, how NOTCH1 [...]