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Mutation Research

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https://www.readbyqxmd.com/read/28625404/editorial
#1
REVIEW
Minoru Takata
No abstract text is available yet for this article.
June 10, 2017: Mutation Research
https://www.readbyqxmd.com/read/28552167/eukaryotic-dna-damage-responses-homologous-recombination-factors-and-ubiquitin-modification
#2
REVIEW
Nam Soo Lee, Soomi Kim, Yong Woo Jung, Hongtae Kim
To prevent genomic instability disorders, cells have developed a DNA damage response. The response involves various proteins that sense damaged DNA, transduce damage signals, and effect DNA repair. In addition, ubiquitin modifications modulate the signaling pathway depending on cellular context. Among various types of DNA damage, double-stranded breaks are highly toxic to genomic integrity. Homologous recombination (HR) repair is an essential mechanism that fixes DNA damage because of its high level of accuracy...
May 6, 2017: Mutation Research
https://www.readbyqxmd.com/read/28552166/activation-of-the-fa-pathway-mediated-by-phosphorylation-and-ubiquitination
#3
REVIEW
Masamichi Ishiai, Koichi Sato, Junya Tomida, Hiroyuki Kitao, Hitoshi Kurumizaka, Minoru Takata
Fanconi anemia (FA) is a devastating hereditary condition that impacts genome integrity, leading to clinical features such as skeletal and visceral organ malformations, attrition of bone marrow stem cells, and carcinogenesis. At least 21 proteins, when absent or defective, have been implicated in this disorder, and they together constitute the FA pathway, which functions in detection and repair of, and tolerance to, endogenous DNA damage. The damage primarily handled by the FA pathway has been assumed to be related to DNA interstrand crosslinks (ICLs)...
May 5, 2017: Mutation Research
https://www.readbyqxmd.com/read/28521962/the-functional-roles-of-pml-nuclear-bodies-in-genome-maintenance
#4
REVIEW
Hae Ryung Chang, Anudari Munkhjargal, Myung-Jin Kim, Seon Young Park, Eunyoung Jung, Jae-Ha Ryu, Young Yang, Jong-Seok Lim, Yonghwan Kim
In the nucleus, there are several membraneless structures called nuclear bodies. Among them, promyelocytic leukemia nuclear bodies (PML-NBs) are involved in multiple genome maintenance pathways including the DNA damage response, DNA repair, telomere homeostasis, and p53-associated apoptosis. In response to DNA damage, PML-NBs are coalesced and divided by a fission mechanism, thus increasing their number. PML-NBs also play a role in repairing DNA double-strand breaks (DSBs) by homologous recombination (HR). Clinically, the dominant negative PML-RARα fusion protein expressed in acute promyelocytic leukemia (APL) inhibits the transactivation of downstream factors and disrupts PML function, revealing the tumor suppressor role of PML-NBs...
May 5, 2017: Mutation Research
https://www.readbyqxmd.com/read/28501645/targeted-sequencing-identifies-novel-variants-involved-in-autosomal-recessive-hereditary-hearing-loss-in-qatari-families
#5
Moza K Alkowari, Diego Vozzi, Shruti Bhagat, Navaneethakrishnan Krishnamoorthy, Anna Morgan, Yousra Hayder, Barathy Logendra, Nehal Najjar, Ilaria Gandin, Paolo Gasparini, Ramin Badii, Giorgia Girotto, Khalid Abdulhadi
Hereditary hearing loss is characterized by a very high genetic heterogeneity. In the Qatari population the role of GJB2, the worldwide HHL major player, seems to be quite limited compared to Caucasian populations. In this study we analysed 18 Qatari families affected by non-syndromic hearing loss using a targeted sequencing approach that allowed us to analyse 81 genes simultaneously. Thanks to this approach, 50% of these families (9 out of 18) resulted positive for the presence of likely causative alleles in 6 different genes: CDH23, MYO6, GJB6, OTOF, TMC1 and OTOA...
May 4, 2017: Mutation Research
https://www.readbyqxmd.com/read/28501329/eukaryotic-dna-replication-orchestrated-action-of-multi-subunit-protein-complexes
#6
REVIEW
Sukhyun Kang, Mi-Sun Kang, Eunjin Ryu, Kyungjae Myung
Genome duplication is an essential process to preserve genetic information between generations. The eukaryotic cell cycle is composed of functionally distinct phases: G1, S, G2, and M. One of the key replicative proteins that participate at every stage of DNA replication is the Mcm2-7 complex, a replicative helicase. In the G1 phase, inactive Mcm2-7 complexes are loaded on the replication origins by replication-initiator proteins, ORC and Cdc6. Two kinases, S-CDK and DDK, convert the inactive origin-loaded Mcm2-7 complex to an active helicase, the CMG complex in the S phase...
May 1, 2017: Mutation Research
https://www.readbyqxmd.com/read/28412438/torsional-stress-promotes-trinucleotidic-expansion-in-spermatids
#7
Olivier Simard, Seyedeh Raheleh Niavarani, Virginie Gaudreault, Guylain Boissonneault
Trinucleotide repeats are involved in various neurodegenerative diseases and are highly unstable both in dividing or non-dividing cells. In Huntington disease (HD), the age of onset of symptoms is inversely correlated to the number of CAG repeats within exon 1 of the HTT gene. HD shows paternal anticipation as CAG repeats are increased during spermatogenesis. CAG expansion were indeed found to be generated during the chromatin remodeling in spermatids where most histones are evicted and replaced by protamines...
April 9, 2017: Mutation Research
https://www.readbyqxmd.com/read/28458064/towards-precision-prevention-technologies-for-identifying-healthy-individuals-with-high-risk-of-disease
#8
Zachary D Nagel, Bevin P Engelward, David J Brenner, Thomas J Begley, Robert W Sobol, Jason H Bielas, Peter J Stambrook, Qingyi Wei, Jennifer J Hu, Mary Beth Terry, Caroline Dilworth, Kimberly A McAllister, Les Reinlib, Leroy Worth, Daniel T Shaughnessy
The rise of advanced technologies for characterizing human populations at the molecular level, from sequence to function, is shifting disease prevention paradigms toward personalized strategies. Because minimization of adverse outcomes is a key driver for treatment decisions for diseased populations, developing personalized therapy strategies represent an important dimension of both precision medicine and personalized prevention. In this commentary, we highlight recently developed enabling technologies in the field of DNA damage, DNA repair, and mutagenesis...
April 6, 2017: Mutation Research
https://www.readbyqxmd.com/read/28431268/assessment-of-mutagenicity-of-water-from-lake-sevan-armenia-with-application-of-tradescantia-clone-02
#9
R E Avalyan, E A Aghajanyan, A Khosrovyan, A L Atoyants, A E Simonyan, R M Aroutiounian
For many decades water resources in Armenia have been affected by anthropogenic activity, therefore, a regular bioindication of genotoxic effects of the water bodies is desirable. The genotoxicity of water samples collected from different parts of Lake Sevan were assessed by means of Trad-SHM (stamen hair mutation) assay using Tradescantia (clone 02). Here we report a significant increase in the frequency of somatic mutations and morphological changes in the Tradescantia inflorescences exposed to the water samples compared to the control...
March 31, 2017: Mutation Research
https://www.readbyqxmd.com/read/28622829/investigation-of-j-shaped-dose-responses-induced-by-exposure-to-the-alkylating-agent-n-methyl-n-nitrosourea
#10
Katherine E Chapman, George R Hoffmann, Shareen H Doak, Gareth J S Jenkins
Hormesis is defined as a biphasic dose-response where biological effects of low doses of a stressor demonstrate the opposite effect to high-dose effects of the same stressor. Hormetic, or J-shaped, dose-response relationships are relatively rarely observed in toxicology, resulting in a limited understanding and even some skepticism of the concept. Low dose-response studies for genotoxicity endpoints have been performed at Swansea University for over a decade. However, no statistically significant decreases below control genotoxicity levels have been detected until recently...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28622828/the-index-of-ideality-of-correlation-a-criterion-of-predictive-potential-of-qspr-qsar-models
#11
Andrey A Toropov, Alla P Toropova
The index of ideality of correlation (IIC) is a new criterion of the predictive potential of quantitative structure-property/activity relationships (QSPRs/QSARs). This IIC is calculated with using of the correlation coefficient between experimental and calculated values of endpoint for the calibration set, with taking into account the positive and negative dispersions between experimental and calculated values. The mutagenicity is well-known important characteristic of substances from ecological point of view...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28622827/copaifera-multijuga-oleoresin-and-its-constituent-diterpene-copalic-acid-genotoxicity-and-chemoprevention-study
#12
Jacqueline M Alves, Juliana M Senedese, Luís F Leandro, Pâmela T Castro, Daiane E Pereira, Luiza J Carneiro, Sérgio R Ambrósio, Jairo K Bastos, Denise C Tavares
Copaiba oleoresins are used in alternative medicine as anti-inflammatory, antitumoral, and antimicrobial treatments. (-)-Copalic acid (CA) is the major diterpene found in exudates from Copaifera species. We have examined the genotoxicity and the chemopreventive potential of Copaifera multijuga oleoresin (CM) and CA. Genotoxicity assessment was examined with the peripheral blood micronucleus test and the comet assay (male Swiss mouse hepatocytes). In the chemoprevention study, we evaluated the effects of CM and CA on the formation of 1,2-dimethylhydrazine (DMH)-induced aberrant crypt foci (ACF) in male Wistar rat colon...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28622826/gstp1-and-xrcc1-polymorphisms-and-dna-damage-in-agricultural-workers-exposed-to-pesticides
#13
Amal Saad-Hussein, Magda Noshy, Mona Taha, Haidan El-Shorbagy, Eman Shahy, Ebtesam A Abdel-Shafy
Pesticide exposure may be associated with increased risk of genotoxicity and carcinogenesis. These risks may be affected by polymorphisms of genes for glutathione transferase-dependent metabolism of pesticides and for DNA repair. We studied the prevalence of GSTP1 and XRCC1 polymorphisms and their possible correlation with DNA damage following prolonged pesticide exposure. DNA damage was estimated by the comet assay in peripheral blood samples from 51 pesticide-exposed workers and 50 controls. GSTP1 (105) and XRCC1 (399 and 194) genotypes were identified by restriction fragment length analysis...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28622825/mutagenicity-of-%C3%AF-3-fatty-acid-peroxidation-products-in-the-ames-test
#14
Petr Grúz, Masatomi Shimizu, Kei-Ichi Sugiyama, Masamitsu Honma
Polyunsaturated fatty acids (PUFA) represent one of the main building blocks of cellular membranes and their varying composition impacts lifespan as well as susceptibility to cancer and other degenerative diseases. Increased intake of ω-3 PUFA is taught to compensate for the abundance of ω-6 PUFA in modern human diet and prevent cardiocirculatory diseases. However, highly unsaturated PUFA of marine and seed origin easily oxidize to aldehydic products which form DNA adducts. With increased PUFA consumption it is prudent to re-evaluate ω-3 PUFA safety and the genotoxic hazards of their metabolites...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28622824/toxicological-assessment-of-nano-and-micron-sized-tungsten-oxide-after-28days-repeated-oral-administration-to-wistar-rats
#15
Srinivas Chinde, Paramjit Grover
Tungsten oxide (WO3) nanoparticles (NPs) are being used in various applications. However, the health consequences of WO3 NPs exposure have not been explored extensively. Hence, the goal of this study was to evaluate the toxicity of WO3 NPs and their microparticles (MPs) after 28days repeated oral administration in Wistar rats. The particles were characterised by transmission electron microscopy (TEM), dynamic light scattering (DLS), laser Doppler velocimetry (LDV), Brunner-Emmett-Teller (BET), X- ray diffraction (XRD), and inductively coupled plasma optical emission spectrometer (ICP-OES)...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28477879/nitrative-dna-damage-induced-by-carbon-black-nanoparticles-in-macrophages-and-lung-epithelial-cells
#16
Yusuke Hiraku, Yoshihiro Nishikawa, Ning Ma, Tahmina Afroz, Kosuke Mizobuchi, Ryo Ishiyama, Yuta Matsunaga, Takamichi Ichinose, Shosuke Kawanishi, Mariko Murata
Carbon black (CB) is a nanomaterial used mainly in rubber products. Exposure to CB by inhalation causes malignant lung tumors in experimental animals. CB inhalation may cause chronic inflammation in the respiratory system, leading to carcinogenesis, but the mechanism remains unclear. Reactive oxygen and nitrogen species are generated from inflammatory and epithelial cells under inflammatory conditions, and resulting DNA damage may contribute to carcinogenesis. In this study, we performed immunocytochemistry to determine whether CB exposure induces formation of 8-nitroguanine (8-nitroG), a nitrative DNA lesion formed under inflammatory conditions, in RAW 264...
June 2017: Mutation Research
https://www.readbyqxmd.com/read/28477878/what-is-the-impact-of-gestational-diabetes-mellitus-on-frequency-of-structural-chromosome-aberrations-in-pregnant-women-and-their-offspring
#17
Monika Witczak, Jan Wilczyński, Ewa Gulczyńska, Tomasz Talar, Anna Mordalska, Dobrosława Łopaczyńska, Tomasz Ferenc
Gestational diabetes mellitus (GDM) is defined as carbohydrate intolerance which results in hyperglycemia first diagnosed during pregnancy. It is associated with an increased levels of oxidative stress due to overproduction of reactive oxygen species (ROS). Overproduction of ROS induces protein oxidation, lipid peroxidation and different types of DNA damage. The objective of this study was to determine the frequencies of structural chromosome aberrations (CA) in peripheral blood of pregnant women (mothers) with GDM and in cord blood of their newborns...
June 2017: Mutation Research
https://www.readbyqxmd.com/read/28477877/tp53-mutations-in-p53-negative-dysplastic-urothelial-cells-from-belgian-aan-patients-new-evidence-for-aristolochic-acid-induced-molecular-pathogenesis-and-carcinogenesis
#18
Selda Aydin, Jérôme Ambroise, Jean-Pierre Cosyns, Jean-Luc Gala
The Aristolochic Acid (AA)-specific mutational pattern was recently characterized in urothelial carcinoma (UC) from Belgian AA Nephropathy (AAN) patients (n=5). Besides the A>T transversion hallmark, a specific AA-mutational pattern was found in the TP53 hotspot region in p53-positive immunohistochemistry (IHC) areas and consisted of poly- or multiclonal TP53 alterations and an unusual high prevalence of G>T transversion. In the current study, these data were complemented using the same validated methodology for assessing the complete coding sequence of the TP53 gene in tumor areas stratified according to the percentage of p53-stained cells (i...
June 2017: Mutation Research
https://www.readbyqxmd.com/read/28477876/entrance-surface-dose-and-induced-dna-damage-in-blood-lymphocytes-of-patients-exposed-to-low-dose-and-low-dose-rate-x-irradiation-during-diagnostic-and-therapeutic-interventional-radiology-procedures
#19
Safa Abdul Syed Basheerudeen, Karthik Kanagaraj, M T Jose, Annalakshmi Ozhimuthu, S Paneerselvam, Sudha Pattan, Santhosh Joseph, Venkateswarlu Raavi, Venkatachalam Perumal
The ionizing radiation received by patients and health workers due to radiological imaging may increase the risks of radiation effects, such as cancer and cataracts. We have investigated the dose received by specific areas around the head and related this to DNA damage in the blood lymphocytes of subjects exposed to interventional imaging. The entrance surface doses (ESD) to the forehead, neck, and shoulder were measured with a thermoluminescence dosimeter (CaSO4 disc or polycrystalline powder of lithium tetraborate doped with Mn) and compared with that of dose area product (DAP)...
June 2017: Mutation Research
https://www.readbyqxmd.com/read/28528692/insulin-like-growth-factor-igf-axis-in-cancerogenesis
#20
REVIEW
Aldona Kasprzak, Wojciech Kwasniewski, Agnieszka Adamek, Anna Gozdzicka-Jozefiak
Determination of the role of insulin-like growth factor (IGF) family components in carcinogenesis of several human tumors is based on numerous epidemiological and pre-clinical studies, experiments in vivo and in vitro and on attempts at application of drugs affecting the IGF axis. Investigative hypotheses in original studies were based on biological functions manifested by the entire family of IGF (ligands, receptors, linking proteins, adaptor molecules). In the context of carcinogenesis the most important functions of IGF family involve intensification of proliferation and inhibition of cell apoptosis and effect on cell transformation through synthesis of several regulatory proteins...
April 2017: Mutation Research
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