Article
Oncology
Jiansong Wang, Jianjun Luo, Xuecheng Wu, Zhiyong Gao
Summary: Recent research found that circ_0000629 promotes CDC73 expression by competitively binding to miR-1290, thereby inhibiting the growth and metastasis of bladder cancer cells.
CANCER MANAGEMENT AND RESEARCH
(2021)
Review
Cell Biology
Nikita Harish Zade, Ekta Khattar
Summary: POT1 is a telomere-binding protein that prevents DNA damage response at telomeres, thus protecting against genomic instability. It is also involved in maintaining telomere length by regulating telomerase-mediated elongation. Mutations in POT1 result in different telomere phenotypes, leading to cancer or telomeropathies.
JOURNAL OF CELLULAR PHYSIOLOGY
(2023)
Review
Oncology
Gustavo Borges, Melanie Criqui, Lea Harrington
Summary: Telomere maintenance is crucial for the integrity of both normal and cancer cells. The instability of telomeres can lead to genome instability in cancer and aging, but cancer cells can partially overcome this instability by increasing telomerase expression.
MOLECULAR ONCOLOGY
(2022)
Article
Multidisciplinary Sciences
Jake Reed, Laura A. Kirkman, Bjorn F. Kafsack, Christopher E. Mason, Kirk W. Deitsch
Summary: Recent research suggests that chromosome end stability and DNA repair mechanisms play a crucial role in variant antigen diversification related to host-parasite interactions in malaria. Long-read sequencing technology was used to study the dynamics of telomere addition and chromosome end stabilization in response to double-strand breaks. The study found that telomere healing induces initial synthesis of telomere repeats in excess of minimum required for end stability, but these newly created telomeres eventually function normally and return to a length similar to intact chromosome ends.
Article
Cell Biology
Emily Weyburne, Giovanni Bosco
Summary: The study focused on specific mutations of the CAPH2 subunit in condensin II, which are enriched in human cancer patients. These mutations were found to cause genomic instability by inducing DNA damage, anaphase defects, micronuclei, and chromosomal instability. They also decreased the binding of CAPH2 to other subunits of the condensin II complex and reduced the amount of CAPH2 protein bound to chromatin, potentially impairing condensin II complex formation and activity during mitosis and interphase, leading to genetic heterogeneity in cell populations.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Biology
Caroline Belser, Franc-Christophe Baurens, Benjamin Noel, Guillaume Martin, Corinne Cruaud, Benjamin Istace, Nabila Yahiaoui, Karine Labadie, Eva Hribova, Jaroslav Dolezel, Arnaud Lemainque, Patrick Wincker, Angelique D'Hont, Jean-Marc Aury
Summary: A chromosome-scale assembly of a banana genome (Musa acuminata) was reported using Oxford Nanopore long-reads, with five out of the eleven chromosomes entirely reconstructed in a single contig from telomere to telomere, revealing the content of complex regions like centromeres or clusters of paralogous genes for the first time.
COMMUNICATIONS BIOLOGY
(2021)
Article
Cell Biology
Jonathan Barroso-Gonzalez, Laura Garcia-Exposito, Pablo Galaviz, Michelle Lee Lynskey, Joshua A. M. Allen, SongMy Hoang, Simon C. Watkins, Hilda A. Pickett, Roderick J. O'Sullivan
Summary: Alternative lengthening of telomeres (ALT) is a telomere-elongation mechanism observed in 15% of cancer subtypes. Disruption of the MutSa DNA mismatch repair complex leads to striking telomere hyperextension in ALT cells. MutSa is specifically recruited to telomeres in ALT cells by associating with the PCNA subunit of the replisome, counteracting the role of BLM helicase in stabilizing hyper-extended telomeres and maintaining the survival of MutSa-deficient ALT cancer cells.
Article
Biochemistry & Molecular Biology
Samantha L. Sholes, Kayarash Karimian, Ariel Gershman, Thomas J. Kelly, Winston Timp, Carol W. Greider
Summary: We developed a method to tag and measure telomere length in yeast using nanopore sequencing. We observed stable chromosome-specific telomere lengths and examined the role of RIF1 and TEL1 in telomere length regulation. The study suggests the influence of Y ' elements on telomere length regulation and provides insights into possible new biological mechanisms.
Article
Oncology
Yanhong Xing, Xiangqing Wei, Meng-Meng Wang, Yucheng Liu, Zhongheng Sui, Xinyan Wang, Yang Zhang, Yuan-Hui Fei, Yi Jiang, Chen Lu, Peng Zhang, Rong Chen, Nan Liu, Mengmei Wu, Lin Ding, Yuqing Wang, Feng Guo, Jun-Li Cao, Jiansong Qi, Wuyang Wang
Summary: TRPM7 activation inhibits autophagy by releasing Zn2+, disrupting fusion between autophagosomes and lysosomes, ultimately arresting autophagy process. TRPM7-mediated autophagy inhibition triggers cell death and restricts tumor growth.
Article
Biology
Alexander N. Malyavko, Olga A. Petrova, Maria Zvereva, Vladimir Polshakov, Olga A. Dontsova
Summary: This study reports the functional characterization of the Rif1 homologue from the methylotrophic thermotolerant budding yeast Hansenula polymorpha DL-1. The study reveals that Rif1 in H. polymorpha suppresses telomerase-dependent telomere elongation through direct DNA binding and association with the Ku heterodimer. It is also found that Rif1 binds Stn1 and promotes its accumulation at telomeres in H. polymorpha.
Article
Biochemistry & Molecular Biology
Yuxin Lin, Zibo Li, Yicheng Wang, Tian Tian, Penghui Jia, Yu Ye, Miao He, Zixiao Yang, Chunmei Li, Deyin Guo, Panpan Hou
Summary: This study identifies a novel autophagy cargo receptor, CCDC50, which negatively regulates NLRP3 inflammasome assembly and the release of related inflammatory factors by degrading NLRP3. CCDC50 deficiency results in upregulation of signaling pathways associated with autoinflammatory diseases and enhances gut inflammation response.
Article
Biochemistry & Molecular Biology
Yuxin Lin, Zibo Li, Yicheng Wang, Tian Tian, Penghui Jia, Yu Ye, Miao He, Zixiao Yang, Chunmei Li, Deyin Guo, Panpan Hou
Summary: The NLRP3-directed inflammasome complex plays a crucial role in host defense against microbial infection and monitoring cellular damage. However, its hyperactivation is implicated in the pathogenesis of inflammatory diseases, such as inflammatory bowel disease (IBD). Autophagy and autophagy-related genes are closely linked to NLRP3-mediated inflammation in these diseases. This study reveals that CCDC50, a novel autophagy cargo receptor, negatively regulates NLRP3 inflammasome assembly and suppresses the release of pro-caspase-1 and interleukin 1 beta (IL-1 beta) by promoting autophagic degradation of NLRP3. Knockdown of CCDC50 leads to upregulation of signaling pathways associated with autoinflammatory diseases, and CCDC50 deficiency enhances proinflammatory cytokine response triggered by various NLRP3 stimuli. Furthermore, mice lacking CCDC50 are more susceptible to DSS-induced colitis and exhibit more severe gut inflammation with elevated NLRP3 inflammasome activity, emphasizing the protective role of CCDC50 in controlling gut inflammation.
Article
Oncology
Aline Rangel-Pozzo, Pak Lok Ivan Yu, Sadhana LaL, Yasmin Asbaghi, Luiza Sisdelli, Pille Tammur, Anu Tamm, Mari Punab, Ludger Klewes, Sherif Louis, Hans Knecht, Adebayo Olujohungbe, Sabine Mai
Summary: Multiple myeloma (MM) is an incurable blood cancer with diverse disease courses and outcomes among patients. The scientific and medical communities are focusing on risk assessment and personalized treatment management for each MM patient, as specific telomeric profiles have been associated with disease aggressiveness and patient response to treatment.
Article
Biotechnology & Applied Microbiology
Mikko Rautiainen, Sergey Nurk, Brian P. Walenz, Glennis A. Logsdon, David Porubsky, Arang Rhie, Evan E. Eichler, Adam M. Phillippy, Sergey Koren
Summary: The Telomere-to-Telomere consortium has achieved the first complete sequence of a human genome. They used a combination of long Nanopore sequencing reads and high-resolution assembly graph to resolve repeat sequences and automate the process in their Verkko pipeline. The result is a phased, diploid assembly with many chromosomes assembled from end to end. This advance is crucial for constructing comprehensive pangenome databases and chromosome-scale comparative genomics.
NATURE BIOTECHNOLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Dawoon Chung, Yong Min Kwon, Youngik Yang
Summary: Trichoderma is a genus of fungi known for its commercial enzyme production, mainly found in soil and terrestrial plants. This study reports a draft genome of T. simmonsii GH-Sj1 isolated from edible kelp, which produced asparaginase. The genomic and transcriptomic data of T. simmonsii GH-Sj1 provide valuable resources for future studies on fungal genomes and asparaginase production.
Article
Genetics & Heredity
Sagar J. Pathak, James L. Mueller, Kevin Okamoto, Barun Das, Jozef Hertecant, Lynn Greenhalgh, Trevor Cole, Vered Pinsk, Baruch Yerushalmi, Odul E. Gurkan, Michael Yourshaw, Erick Hernandez, Sandy Oesterreicher, Sandhia Naik, Ian R. Sanderson, Irene Axelsson, Daniel Agardh, C. Richard Boland, Martin G. Martin, Christopher D. Putnam, Mamata Sivagnanam
Article
Multidisciplinary Sciences
Anjana Srivatsan, Binzhong Li, Dafne N. Sanchez, Steven B. Somach, Vandeclecio L. da Silva, Sandro J. de Souza, Christopher D. Putnam, Richard D. Kolodner
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2019)
Correction
Biochemistry & Molecular Biology
Eva M. Goellner, Christopher D. Putnam, William J. Graham, Christine M. Rahal, Bin-Zhong Li, Richard D. Kolodner
NATURE STRUCTURAL & MOLECULAR BIOLOGY
(2019)
Article
Multidisciplinary Sciences
Lori Broderick, Shawn Yost, Dong Li, Matthew D. McGeough, Laela M. Booshehri, Marisela Guaderrama, Susannah D. Brydges, Karolina Kucharova, Niraj C. Patel, Margaret Harr, Hakon Hakonarson, Elaine Zackai, Ian G. Cowell, Caroline A. Austin, Boris Hugle, Corinna Gebauer, Jianguo Zhang, Xun Xu, Jian Wang, Ben A. Croker, Kelly A. Frazer, Christopher D. Putnam, Hal M. Hoffman
NATURE COMMUNICATIONS
(2019)
Editorial Material
Multidisciplinary Sciences
Christopher D. Putnam
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Article
Multidisciplinary Sciences
Elaine Guo, Yuki Ishii, James Mueller, Anjana Srivatsan, Timothy Gahman, Christopher D. Putnam, Jean Y. J. Wang, Richard D. Kolodner
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Article
Biology
Bin-zhong Li, Christopher D. Putnam, Richard David Kolodner
Article
Hematology
Jahnavi Aluri, Alicia Bach, Saara Kaviany, Luana Chiquetto Paracatu, Maleewan Kitcharoensakkul, Magdalena A. Walkiewicz, Christopher D. Putnam, Marwan Shinawi, Nermina Saucier, Elise M. Rizzi, Michael T. Harmon, Molly P. Keppel, Michelle Ritter, Morgan Similuk, Elaine Kulm, Michael Joyce, Adriana A. de Jesus, Raphaela Goldbach-Mansky, Yi-Shan Lee, Marina Cella, Peggy L. Kendall, Mary C. Dinauer, Jeffrey J. Bednarski, Christina Bemrich-Stolz, Scott W. Canna, Shirley M. Abraham, Matthew M. Demczko, Jonathan Powell, Stacie M. Jones, Amy M. Scurlock, Suk See De Ravin, Jack J. Bleesing, James A. Connelly, V. Koneti Rao, Laura G. Schuettpelz, Megan A. Cooper
Summary: Inborn errors of immunity (IEI) are genetically heterogeneous disorders with a wide clinical spectrum. A new study identified gain-of-function variants in the X-linked gene TLR8 as a novel molecular mechanism leading to this disease.
Article
Biochemistry & Molecular Biology
Gloria X. Reyes, Anna Kolodziejczak, Lovely Jael Paul Solomon Devakumar, Takashi Kubota, Richard D. Kolodner, Christopher D. Putnam, Hans Hombauer
Summary: Mismatch repair (MMR) is crucial for maintaining genome stability by recognizing and excising DNA replication errors. In this study, overexpression of DNA ligase I (Cdc9) in Saccharomyces cerevisiae was found to interfere with MMR by prematurely ligating replication-associated nicks, leading to increased mutation rates and accumulation of MMR intermediates. This study established a general mechanism by which MMR targets newly synthesized DNA, preventing the accumulation of mutations that can contribute to the development of human cancer.
Letter
Immunology
Maleewan Kitcharoensakkul, Jahnavi Aluri, Ibrahim Elsharkawi, Ashley Steed, Christopher D. Putnam, Anil K. Swayampakula, Megan A. Cooper, Jeffrey J. Bednarski
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Review
Genetics & Heredity
Christopher D. Putnam
Summary: DNA mismatch repair corrects non-Watson-Crick basepairs resulting from replication errors, recombination intermediates, and chemical damage. Different organisms have different mechanisms for recognizing and repairing the daughter strand, potentially through methyl-directed MMR or replication-associated daughter strand nicks.
Article
Multidisciplinary Sciences
Felipe A. Calil, Bin-Zhong Li, Kendall A. Torres, Katarina Nguyen, Nikki Bowen, Christopher D. Putnam, Richard D. Kolodner
Summary: The study reveals that different mutations inactivate different MMR pathways, with the Exo1-independent eukaryotic MMR pathway defined by Rad27 being redundant with at least two other MMR pathways.
NATURE COMMUNICATIONS
(2021)
Article
Allergy
Lori Broderick, Gwendolyn M. Clay, Robert H. Blum, Yang Liu, Rachael McVicar, Fabio Papes, Laela M. Booshehri, Ian G. Cowell, Caroline A. Austin, Christopher D. Putnam, Dan S. Kaufman
Summary: The study examines the impact of Hoffman syndrome-associated mutations in TOP2B on the development and function of NK cells. Using a knockin murine model and patient-derived iPSCs, the researchers investigated NK-cell development in mouse bone marrow and spleen, and assessed the immunophenotype, gene expression, and cytotoxic activity of NK cells in both murine and human models.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Review
Cell Biology
Hannah L. Klein, Giedre Bacinskaja, Jun Che, Anais Cheblal, Rajula Elango, Anastasiya Epshtein, Devon M. Fitzgerald, Belen Gomez-Gonzalez, Sharik R. Khan, Sandeep Kumar, Bryan A. Leland, Lea Marie, Qian Mei, Judith Mine-Hattab, Alicja Piotrowska, Erica J. Polleys, Christopher D. Putnam, Elina A. Radchenko, Anissia Ait Saada, Cynthia J. Sakofsky, Eun Yong Shim, Mathew Stracy, Jun Xia, Zhenxin Yan, Yi Yin, Andres Aguilera, Juan Lucas Argueso, Catherine H. Freudenreich, Susan M. Gasser, Dmitry A. Gordenin, James E. Haber, Grzegorz Ira, Sue Jinks-Robertson, Megan C. King, Richard D. Kolodner, Andrei Kuzminov, Sarah A. E. Lambert, Sang Eun Lee, Kyle M. Miller, Sergei M. Mirkin, Thomas D. Petes, Susan M. Rosenberg, Rodney Rothstein, Lorraine S. Symington, Pawel Zawadzki, Nayun Kim, Michael Lisby, Anna Malkova