Article
Biochemistry & Molecular Biology
Ekaterina Koryakina, Vladimir I. Potetnya, Marina Troshina, Raisa Baykuzina, Sergey Koryakin, Anatoliy Lychagin, Aleksei Solovev, Vyacheslav Saburov, Vladimir Pikalov, Petr Shegay, Sergey Ivanov, Andrey Kaprin
Summary: We investigated the impact of radiation linear energy transfer (LET) on the manifestation of HRS/IRR response in Chinese hamster ovary cells exposed to radiotherapy. The results showed that increasing LET shifted the upper border of HRS and shortened the IRR region, with carbon radiation exhibiting higher CA levels. CHO-K1 cells exhibited the general features of HRS/IRR phenomena.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Marzia Ognibene, Patrizia De Marco, Loredana Amoroso, Martina Fragola, Federico Zara, Stefano Parodi, Annalisa Pezzolo
Summary: Chromosomal instability (CIN) is a hallmark of most human cancers and can lead to losses or gains of chromosomes. This study evaluated the prognostic role of CIN in NB patients at diagnosis and found that high CIN values are negatively associated with survival of NB patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Hematology
Karen R. Rabin
Summary: In this study, Gao et al explore the genomic characteristics of pediatric acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21 (iAMP21-ALL).
Review
Genetics & Heredity
Zimeng Gao, Stephanie M. Rice, Sascha Wodoslawsky, Sara C. Long, Zi-Xuan Wang, Mehnoosh Torkzaban, Ana Milena Angarita Africano, Jinglan Liu, Huda B. Al-Kouatly
Summary: By conducting a systematic literature review, we aimed to determine the spectrum of cytogenetic abnormalities and outcomes in unbalanced offspring of asymptomatic constitutional balanced t(9;22) carriers. Our study found that the unbalanced translocations resulted in various syndromes, including intellectual disability, cardiac abnormalities, and facial or skeletal dysmorphias.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Shuo Zhang, Zhenle Pei, Caixia Lei, Saijuan Zhu, Ke Deng, Jing Zhou, Jingmin Yang, Daru Lu, Xiaoxi Sun, Chenming Xu, Congjian Xu
Summary: This study investigates the potential of single-molecule optical genome mapping (OGM) in detecting cryptic chromosomal rearrangements. OGM successfully detected cryptic reciprocal translocations in 11 couples, and the results were consistent with other experimental methods. The study suggests that OGM is a rapid and accurate method for detecting cryptic BCRs, and it provides additional genetic information.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biology
Floriane Poignant, Ianik Plante, Luis Crespo, Tony Slaba
Summary: Studying energy deposition by space radiation at the cellular scale provides insights on health risks to astronauts. Through modeling the energy deposition spectra and chromosome aberrations of high-energy ion beams, this study categorized ion contributions into direct and indirect contributions and analyzed their effects on microdosimetry and chromosome aberrations.
Article
Multidisciplinary Sciences
Kengo Yoshida, Yasunari Satoh, Arikuni Uchimura, Munechika Misumi, Seishi Kyoizumi, Masataka Taga, Yukiko Matsuda, Asao Noda, Yoichiro Kusunoki
Summary: Radiation exposure has been found to induce clonal hematopoiesis (CH) in elderly individuals, which is associated with hematologic malignancy and cardiovascular disease. This study used a mouse model to investigate the effects of radiation exposure on CH. The results showed that radiation exposure led to an increase in peripheral blood myeloid cells and red blood cell distribution width, and recurrent somatic mutations were observed specifically in the hematopoietic system. These findings highlight the development of massive CH due to radiation exposure and provide insights into the mutations involved in radiation-induced CH.
SCIENTIFIC REPORTS
(2022)
Article
Toxicology
Kenji Nakamura, Yuji Ishii, Shinji Takasu, Takehiko Nohmi, Makoto Shibutani, Kumiko Ogawa
Summary: This study clarified the role of chromosome aberrations (CAs) in chemical-induced carcinogenesis using a rat model with acetamide, a non-mutagenic hepatocarcinogen. Results showed that CAs induced by acetamide played a pivotal role in hepatocarcinogenesis in rats via micronucleus formation, highlighting the potential of chromosome rearrangements in chemical carcinogenesis.
ARCHIVES OF TOXICOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Jolanta Kwasniewska, Adrianna Wiktoria Bara
Summary: Cytogenetic approaches are important for evaluating the genetic effects of mutagenic treatments, and although they are time-consuming, they are essential for studying cytotoxic and genotoxic effects and environmental monitoring. The micronucleus test is an important method for studying genotoxicity in plants, and recent advancements have expanded the scope of cytogenetic techniques beyond the detection of chromosome aberrations. However, there is limited knowledge about micronuclei in plants compared to humans and animals.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Optics
Keita Ishida, Kanta Naruse, Yuta Mizouchi, Yoshihiro Ogawa, Michio Matsushita, Takeshi Shimi, Hiroshi Kimura, Satoru Fujiyoshi
Summary: Researchers developed a variable immersion lens (VIL) to passively minimize aberrations arising from interface refractions, enabling high numerical aperture (NA) imaging in water. The VIL system can correct multiple aberrations simultaneously, allowing accurate imaging of fluorescent beads in three dimensions.
Article
Hematology
Allison Barz Leahy, Kaitlin J. Devine, Yimei Li, Hongyan Liu, Regina Myers, Amanda DiNofia, Lisa Wray, Susan R. Rheingold, Colleen Callahan, Diane Baniewicz, Maria Patino, Haley Newman, Stephen P. Hunger, Stephan A. Grupp, David M. Barrett, Shannon L. Maude
Summary: Chimeric antigen receptor (CAR) T-cell therapy is effective in treating relapsed/refractory B-acute lymphoblastic leukemia (ALL), regardless of different cytogenetic characteristics. High-risk patients, including those with KMT2A-rearranged infant ALL, showed high probabilities of relapse-free survival and overall survival at 2 years.
Article
Oncology
Femke M. Hormann, Alex Q. Hoogkamer, Aurelie Boeree, Edwin Sonneveld, Gabriele Escherich, Monique L. den Boer, Judith M. Boer
Summary: This study narrowed down the common region of amplification in iAMP21, which includes 13 genes, 8 of which were significantly upregulated. The highest overexpressed gene, RIPPLY3, was strongly correlated with iAMP21-related genome-wide expression changes. These findings could improve the diagnosis of iAMP21 and stimulate further research into the role of these genes in iAMP21 biology.
FRONTIERS IN ONCOLOGY
(2023)
Editorial Material
Plant Sciences
Pierre Sourdille, Eric Jenczewski
Summary: This article is a commentary on Higgins et al.'s (2021) study.
Review
Dentistry, Oral Surgery & Medicine
Rong Lan, Yiqun Wu, Qinggang Dai, Feng Wang
Summary: This study reviewed the pathogenic mechanisms and clinical manifestations of syndromes with tooth agenesis, finding that the causes of syndromic TA are highly complex, including gene mutations, abnormal crucial molecules, and chromosomal anomalies.
Article
Environmental Sciences
Abeer E. El-Ansary, Ahmed A. A. Omran, Heba I. Mohamed, Omima M. El-Mahdy
Summary: Green biosynthesized nanoparticles have great potential due to their energy-efficient, cost-effective, repeatable, and environmentally friendly production method. In this study, silver nanoparticles (AgNPs) were synthesized using the Fusarium nygamai isolate AJTYC1. The synthesized AgNPs showed distinctive properties, including antioxidant, antibacterial, antifungal, and anticancer activities, as well as promising photocatalytic activity and decolorizing effect.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2023)
Article
Biotechnology & Applied Microbiology
C. F. M. Menck, R. S. Galhardo, A. Quinet
Summary: Studies have shown that xeroderma pigmentosum variant (XP-V) patients have mutations in the POLH gene, resulting in a high frequency of skin tumors. However, it is paradoxical that the translesion synthesis DNA polymerase eta (Pol η) in these patients can actually suppress mutations, and the mechanism behind this is still unclear. Recent evidence suggests that cyclobutane pyrimidine dimers (CPDs) play an instructional role for Pol η, enabling accurate replication of these lesions, and the mutagenic effects induced by UV radiation are caused by the deamination of C-containing CPDs. This process leads to C>T transitions, which are the most common mutations in skin cancers. The delayed replication in XP-V cells amplifies the deamination of C in CPDs and increases the burden of C>T mutations through the activity of backup TLS polymerases.
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
(2024)
