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Mutation Research

Xihan Guo, Xueqin Dai, Juan Ni, Neng Cao, Guofang Yang, Jinglun Xue, Xu Wang
Patients with type 2 diabetes mellitus (T2DM) are associated with an elevated, but poorly understood baseline of genomic instability (GIN). Expert panels are still debating on whether hyperglycemia is the key element in conferring this high GIN. Since high blood glucose and low blood folate are prevalent in T2DM, we hypothesized that high glucose may work with low folate to induce GIN. Using NCM460, CCD841 and L02 cell lines as in vitro cell models, we investigated the genotoxic effects of high sugars (HS; 1-2% glucose, fructose, galactose or sucrose) alone or in combination with folate deficiency (23 nM, FD) over a course of 7 days by the cytokinesis block micronucleus assay...
January 9, 2019: Mutation Research
Puja Singh, Shu-Ping Tung, Eun Hee Han, In-Kyu Lee, Young-In Chi
HNF4α is a culprit gene product for a monogenic and dominantly-inherited form of diabetes, referred to as MODY1 (Maturity Onset Diabetes of the Young type 1). Reduced HNF4α activities have been linked to impaired insulin secretion and β-cell function. Numerous mutations have been identified from the patients and they have been instructive as to the individual residue's role in protein structure-function and dysfunction. As a member of the nuclear receptor (NR) superfamily, HNF4α is made of characteristic modular domains and it functions exclusively as a homodimer despite its sequence homology to RXR, a common heterodimer partner of non-steroidal NRs...
January 9, 2019: Mutation Research
Arundhati Banerjee, Sujay Ray
For night blindness, a detailed structural exploration of the interactions among G-protein receptor rhodopsin, transducin and arrestin was performed. Rhodopsin is responsible for dim light vision while a point mutation (G90→D90) results in an adverse change in its photo-transduction. The validated 3D models of the three proteins were utilized, and upon mutation and interactions, rhodopsin attained higher stability (evaluated through thermodynamic energy calculations, electrostatic surface potential and solvent accessible area), thereby participating strongly with transducin...
January 4, 2019: Mutation Research
Sergei A Solodskikh, Anna V Panevina, Maria V Gryaznova, Artem P Gureev, Olga V Serzhantova, Andrei A Mikhailov, Alexander Y Maslov, Vasily N Popov
BRCA1 and BRCA2 are tumor suppressor genes involved in the repair of DNA damage and transcriptional regulation of the cell cycle. Alterations in BRCA1/2 lead to production of functionally defective proteins that impair DNA repair. Certain mutant variants of BRCA1/2 are strongly associated with increased risk of breast and ovarian cancers, with emerging data on association with other types of cancer. However, variability of BRCA1/2 in Russian populations remains understudied. In this study, we performed targeted sequencing of BRCA1/2 in 145 breast cancer (BC) patients with a family history of BRCA-associated cancers and 47 age-matched cancer-free control individuals with or without a family history of cancer...
December 29, 2018: Mutation Research
Yang Zou, Jiang-Yan Zhou, Jiu-Bai Guo, Zi-Yu Zhang, Yong Luo, Fa-Ying Liu, Huang Huang, Feng Wang, Ming He, Li-Qun Wang, Ou-Ping Huang
Endometriosis is characterized by the ectopic implant of endometrial tissue outside the uterine cavity and found in ˜35-50% of subfertile women. Previous studies have found that endometriosis had frequent defects in zona pellucida (ZP), and mutations in ZP genes could lead to ZP defects, raising the possibility that mutations in ZP genes might exist in endometriosis. We analyzed a total of 152 Han Chinese samples with ovarian endometriosis for the presence of mutations in the ZP1, ZP2, ZP3 and ZP4 genes. Two novel nonsynonymous ZP4 mutations were identified in three out of 152 (2...
December 21, 2018: Mutation Research
Monruedee Sukprasansap, Piyanut Sridonpai, Preeyaporn Plaimee Phiboonchaiyanan
Eggplant belongs to the Solanaceae family, and it has an important antioxidant capability that has been shown to counteract oxidation, which is harmful to health and many diseases. In this present study, we evaluated the antigenotoxic effects of six eggplants ((Solanum aculeatissimum Jacq. 'Ma-khuea-lueang'; ML), (Solanum aculeatissimum Jacq. 'Ma-khuea-pro'; MP), (Solanum aculeatissimum Jacq. 'Ma-khuea-sawoei'; MS), (Solanum melongena Linn. 'Ma-khuea-khai-tao'; MKT), (Solanum melongena Linn. 'Ma-khuea-muang klom'; MM) and (Solanum torvum Sw...
December 21, 2018: Mutation Research
Ritu Dixit, Ashok Kumar, Bhagyalaxmi Mohapatra
Synonymous variations, previously considered as neutral, are recently shown to have a significant impact on mRNA structure and stability thereby affecting protein expression and function. Their role in disease pathogenesis is also emerging. GATA4 is an important transcription factor involved in cardiac development and a well-known candidate gene associated with congenital heart disease (CHD). In the present study, we sought to conduct molecular screening of GATA4 gene in 285 sporadic and non-syndromic CHD cases...
December 15, 2018: Mutation Research
Ye Yang, Sung-Hyun Park, Maria Alford-Zappala, Hyun-Wook Lee, Jing Li, Richard P Cunningham, Weiguo Cao
Endonuclease III is a DNA glycosylase previously known for its repair activity on oxidative pyrimidine damage. Uracil is a deamination product derived from cytosine. Uracil DNA N-glycosylase (UNG) and mismatch-specific uracil DNA glycosylase (MUG) are two known repair enzymes with enzymatic activity on uracil in E. coli. Here we report a G/U specific uracil DNA glycosylase activity in E. coli endonuclease III (endo III, Nth), which is comparable to MUG but significantly lower than its thymine glycol DNA glycosylase activity...
December 14, 2018: Mutation Research
Aditya K Padhi, James Gomes
Missense mutations in certain genes of the Ribonuclease (RNASE) superfamily cause amyotrophic lateral sclerosis (ALS) through loss of either ribonucleolytic or nuclear translocation or both of these activities. While rare ANG/RNASE5 variants have been previously shown to be ALS causative, it is not yet known if any of the reported rare RNASE4 variants can also trigger ALS. The study aims to understand whether rare variants of RNASE4 can manifest ALS through similar loss-of-function mechanisms. Molecular dynamics (MD) simulations were performed on wild-type and all reported rare RNASE4 variants to study the structural and dynamic changes in the catalytic triad and nuclear localization signal residues responsible for ribonucleolytic and nuclear translocation activities respectively...
November 29, 2018: Mutation Research
Fengqiu Zhang, Zhu Chen, Changsheng Shao, Qing Huang
It is known that histone deacetylase inhibitors (HDACis) can modify acetylation of tumor cells and affect radiation sensitivity, or, radiosensitivity. While previous studies showed that trichostatin A (TSA, a typical HDACi) could enhance cell acetylation and so be used as radiation-sensitizer in radiotherapy, we questioned if the radiosensitivity is correlated with cellular acetylation directly. So we inspected radiation response of HeLa cells treated with TSA and investigated the time-dependent effect on radiosensitivity...
November 22, 2018: Mutation Research
Chise Tateno, Masahito Fukumuro, Shoji Masumori, Masakazu Kakuni, Yuji Ishida, Takashi Shimada, Makoto Hayashi
Genotoxicity assays are characterized by a method, an in vitro or in vivo target, and an endpoint. Many cell types have been used as targets, including bacterial cells, cultured mammalian cells, and rodent cells in vivo. Human cells are the most important target for evaluating the risk to humans associated with exposure to chemicals. Almost exclusively, the human cells used in genotoxicity tests have been cultured cells. Here, we have tested human hepatocytes in PXB-mice® , chimeric mice in which the liver has been repopulated with human hepatocytes, as a source of target cells for in vivo genotoxicity assays...
March 2019: Mutation Research
Fang Liu, Zhuanzi Wang, Wenjian Li, Yanting Wei
The need to understand the health effects of heavy ion irradiation is motivated by the use of this modality in radiotherapy and by the potential for exposure during space missions. We have studied the effects of carbon-ion total-body irradiation on the hematopoietic system of the mouse and, in particular, the transcriptional response of bone marrow (BM) cells. Carbon-ion irradiation caused BM cell DNA damage, apoptosis, elevated ROS, and myelosuppression. Transcriptomic analysis showed that overall gene expression in irradiated BM cells differed significantly from the controls...
March 2019: Mutation Research
Qi Yuan, Yaoyao Chen, Xiaobo Li, Zhengdong Zhang, Haiyan Chu
We investigated the mechanism responsible for the oxidative stress and pro-inflammatory response triggered by PM2.5 collected from Nanjing of China. Two human bronchial epithelia cell lines (HBE and BEAS-2B) were used. Human gene expression profile microarray was performed to investigate the alteration of gene expression in PM2.5 -treated HBE cells. The results of ROS assay and ELISA indicated that PM2.5 (150 μg/ml) increased the level of cellular reactive oxygen species (ROS) and promoted the release of interleukin-6 (IL-6) in HBE cells...
March 2019: Mutation Research
Ilya Prokopiev, Galina Filippova, Eduard Filippov, Ivan Voronov, Igor Sleptsov, Aliy Zhanataev
Usnic acid, which is the most widespread and well-studied secondary lichen compound, has antibacterial and cytotoxic effects. Usnic acid is present in lichens as the (+)- and (-)-enantiomers, which have different biological activities. We used a DNA-comet assay to determine the genotoxic effect of (+)- and (-)-usnic acid in the liver and kidney cells of mice. The genotoxic effect of usnic acid was only observed 1 h after oral administration. Usnic acid doses of 100 and 50 mg/kg resulted in DNA damage in the liver and kidney cells...
March 2019: Mutation Research
David Kirkland, Dan D Levy, Matthew J LeBaron, Marilyn J Aardema, Carol Beevers, Javed Bhalli, George R Douglas, Patricia A Escobar, Christopher S Farabaugh, Melanie Guerard, George E Johnson, Rohan Kulkarni, Frank Le Curieux, Alexandra S Long, Jasmin Lott, David P Lovell, Mirjam Luijten, Francesco Marchetti, John J Nicolette, Stefan Pfuhler, Daniel J Roberts, Leon F Stankowski, Veronique Thybaud, Sandy K Weiner, Andrew Williams, Kristine L Witt, Robert Young
A database of 91 chemicals with published data from both transgenic rodent mutation (TGR) and rodent comet assays has been compiled. The objective was to compare the sensitivity of the two assays for detecting genotoxicity. Critical aspects of study design and results were tabulated for each dataset. There were fewer datasets from rats than mice, particularly for the TGR assay, and therefore, results from both species were combined for further analysis. TGR and comet responses were compared in liver and bone marrow (the most commonly studied tissues), and in stomach and colon evaluated either separately or in combination with other GI tract segments...
March 2019: Mutation Research
Guang-Hui Zhang, Jing-Chao Ren, Mengkai Luo, Junpeng Cui, Yanqiu Du, Daokun Yang, Shouming Cui, Xiao Wang, Weidong Wu, Jia Cao, Zhao-Lin Xia
OBJECTIVE: The base excision repair (BER) pathway and nucleotide excision repair (NER) pathway play important roles in the repair of benzene-induced genetic damage, and the effects of polymorphisms in these pathways on genetic damage and global DNA methylation are of great interest. METHODS: Ten single nucleotide polymorphisms (SNPs) in the BER (XRCC1: rs25489, rs25487; APE1: rs1130409) and NER pathways (XPA: rs1800975; XPC: rs2228000, rs2228002; XPD: rs13181, rs1799793; XPG: rs17655; ERCC1: rs3212986) were analyzed by a Kompetitive allele-specific PCR (KASP) assay to find associations with cytokinesis-block micronucleus (MN) frequency and global DNA methylation in 294 shoe factory workers and 102 control participants...
March 2019: Mutation Research
Vertika Singh, Sujit Kumar Mohanty, Priyanka Verma, Arijit Chakraborty, Sameer Trivedi, Singh Rajender, Kiran Singh
High fidelity DNA repair is critical to sustain the genomic integrity and quality of developing germ cells. Deficiencies in DNA repair machinery may result in increased DNA damage in germ cell leading to abnormal spermatogenesis and infertility. X-ray repair cross-complementing group 1 (XRCC1) is a testis enriched protein that plays a crucial role in the DNA base excision repair (BER) pathway. The aim of this study was to analyze the level of XRCC1 transcript and protein in infertile men and its association with DNA damage in sperm...
March 2019: Mutation Research
Chie Furihata, Takayoshi Suzuki
Previously, we proposed 12 marker genes (Aen, Bax, Btg2, Ccnf, Ccng1, Cdkn1a, Gdf15, Lrp1, Mbd1, Phlda3, Plk2 and Tubb4b) to discriminate mouse genotoxic hepatocarcinogens (GTHC) from non-genotoxic hepatocarcinogens (NGTHC). This was determined by qPCR and principal component analysis (PCA), as the aim of an in vivo short-term screening for genotoxic hepatocarcinogens. For this paper, we conducted an application study of the 12 mouse marker genes to rat data, Open TG-GATEs (public data). We analyzed five typical rat GTHC (2-acetamodofluorene, aflatoxin B1, 2-nitrofluorene, N-nitrosodiethylamine and N-nitrosomorpholine), and not only seven typical rat NGTHC (clofibrate, ethanol, fenofibrate, gemfibrozil, hexachlorobenzene, phenobarbital and WY-14643) but also 11 non-genotoxic non-hepatocarcinogens (NGTNHC; allyl alcohol, aspirin, caffeine, chlorpheniramine, chlorpropamide, dexamethasone, diazepam, indomethacin, phenylbutazone, theophylline and tolbutamide) from Open TG-GATEs...
February 2019: Mutation Research
K Walczak, J Olszewski, K Domeradzka-Gajda, P Politański, M Zmyślony, K Kowalczyk, M Stępnik
INTRODUCTION: Ninety four residents of Kowary city (Poland) have been investigated for environmental radon exposure that ranged from 0.24 WLM to 9.6 WLM (activity concentration range: 35-2700 Bq/m3 ). Kowary was chosen because of uranium mineralisation in its close vicinity. METHOD: Whole population studied was divided into two groups: exposed to low radon activity concentrations resulting in the exposure of ≤0.55 WLM (value corresponding to the exposure to 100 Bq/m3 during whole year), and exposed to high radon activity concentration (>0...
February 2019: Mutation Research
Akshaya Prasad, Shangamithra Visweswaran, Karthik Kanagaraj, Venkateswarlu Raavi, M Arunan, E Venkatachalapathy, S Paneerselvam, M T Jose, Annalakshmi Ozhimuthu, Venkatachalam Perumal
Positron Emission Tomography/Computed Tomography (PET/CT), a combination of PET and CT, is used in tumor staging, therapy planning, and treatment response monitoring. During PET imaging, patients receive low doses of radiation, which can induce an adaptive response and necessitate higher doses for therapeutic efficacy. Higher doses may augment toxicity to normal cells. We are examining the effects of short-term, low-dose exposures to ionizing radiation. Entrance Surface Dose (ESD) to head, shoulders, and pelvis regions were measured using Li2 B4 O7 : Mn thermoluminescent dosimeters...
February 2019: Mutation Research
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