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Mutation Research

Min Zhang, Da Yang, Barry Gold
The enhanced incidence of colorectal cancer (CRC) in the U.S.A. has been linked to promutagens, such as heterocyclic aromatic amines, in the western diet that are produced by high temperature cooking of meat. However, a prior analysis of driver nonsense mutations in the Adenomatous Polyposis Coli (APC) gene, which is mutated in 75% of human CRC, indicated that the C·G → A·T transversions produced by this class of mutagens were not enriched but actually lower than what would be statistically anticipated...
May 1, 2018: Mutation Research
Kyungjae Myung
No abstract text is available yet for this article.
April 26, 2018: Mutation Research
Qi Zheng
The mutation frequency, also known as the mutant frequency, is an unnormalized quantity, and its normalized counterpart is the mutation rate. Due to historical reasons, the mutation frequency has been a predominant yardstick of microbial mutability in the field of mutator identification. While the mean mutation frequency is infamously erratic, replacing it with the median mutation frequency is not an effective remedy. By encouraging investigators to substitute mutation rates for mutation frequencies in microbial research, this paper directs attention to substantial open problems such as false positive control and massive nonmutant cell death...
April 22, 2018: Mutation Research
Meiling An, Zhou Zheng, Changfeng Qu, Xixi Wang, Hao Chen, Chongli Shi, Jinlai Miao
The psychrophilic microalga, Chlamydomonas sp. ICE-L, isolated from floating ice in the Antarctic, one of the most highly UV exposed ecosystems on Earth, displays an efficient DNA photorepair capacity. Here, the first known (6-4) photolyase gene (6-4CiPhr) from C. sp. ICE-L was identified. The 6-4CiPhr encoded 559-amino acid polypeptide with a pI of 8.86, and had a predicted Mw of 64.2 kDa. Real-time PCR was carried out to investigate the response of 6-4CiPhr to UVB exposure. The transcription of 6-4CiPhr was up-regulated continuously within 6 h, achieving a maximum of 62...
March 31, 2018: Mutation Research
Seungjin Ryu, Jeehae Han, Trina M Norden-Krichmar, Nicholas J Schork, Yousin Suh
Identification of all genetic variants associated with complex traits is one of the most important goals in modern human genetics. Genome-wide association studies (GWAS) have been successfully applied to identify common variants, which thus far explain only small portion of heritability. Interests in rare variants have been increasingly growing as an answer for this missing heritability. While next-generation sequencing allows detection of rare variants, its cost is still prohibitively high to sequence a large number of human DNA samples required for rare variant association studies...
March 30, 2018: Mutation Research
Bani Bandana Ganguly, Shouvik Mandal, Nalok Banerjee, Nitin N Kadam, Rita Abbi
Follow-up cytogenetic study was carried out on 145 individuals from areas stratified by Indian Council of Medical Research, for evaluation of the effect of age-at-exposure and its interaction with exposure status on chromosomal aberrations (CA) in blood-lymphocytes. CA was presented as abnormal cell (Abc), aberrations (Abn) and number of aberration/abnormal cell (Abn/Abc), and correlated with age-at-exposure (childhood: <1-10 years; young: 11-26 years; adult: >27 years). Age related increase in abnormalities (Abc, Abn, Abn/Abc) was observed in all exposure strata, except moderately exposed adult-group, which has exhibited lower Abn/Abc than similarly exposed childhood and young age-groups...
March 29, 2018: Mutation Research
Ka-Kui Chan, Esther Shuk-Ying Wong, Oscar Gee-Wan Wong, Hextan Yuen-Sheung Ngan, Annie Nga-Yin Cheung
Hydatidiform mole (HM), an unusual pregnancy with pure or predominant paternal genetic contribution, is the most common form of gestational trophoblastic disease. Most HM regress after uterine evacuation but some will develop into persistent disease or even frank malignancy. Although p53 is highly expressed in HM, TP53 mutations have rarely been detected in previous studies. Here we screened for specific missense mutations on several TP53 hotspots in 49 HMs using a highly sensitive pyrosequencing approach and revealed the significant existence of such mutations in HM tissues...
March 29, 2018: Mutation Research
Jiayu Ye, Caitlin R Farrington, Julie T Millard
DNA oligonucleotides containing site-specific N7-guanine monoadducts of cisplatin, diepoxybutane, and epichlorohydrin were used as templates for DNA synthesis by two bacterial DNA polymerases and human polymerase β. These polymerases were able to bypass the lesions effectively, although the efficiency was decreased, with inhibition increasing with the size of the lesion. Fidelity of incorporation was essentially unaltered, suggesting that N7-guanine monoadducts do not significantly contribute to the mutational spectra of these agents...
March 20, 2018: Mutation Research
Iman Ibrahim, Mev Dominguez-Valentin, Bernard Segal, Anthony Zeitouni, Sabrina Daniela da Silva
Hearing and balance disorders are related to the inner ear and are among the major cause of falls in older adults. Hearing loss that commonly occurs with aging (aka presbyacusis) can result from noise exposure, smoking, ototoxic drugs and genetic factors such as mutations in nuclear and mitochondrial genes. Mutations in mitochondrial DNA (mtDNA) have been reported to play an important role in cell function by providing energy, as well as, cell death (apoptosis). This study aims to systematically review mitochondrial mutations associated with presbyacusis and suggests preventive measurements to improve the quality of life in older adults...
March 10, 2018: Mutation Research
Rola Barcham, Nicolas Orsini, Eric Andres, Alexander Hundt, Anne-Pascale Luzy
We investigated the commercially available Episkin LM™ reconstructed epidermis test system as a potential 3D model for human genotoxicity assessment by cytokinesis-block micronucleus assay to mitigate limitations of the currently accepted micronucleus test. We established appropriate culture conditions for cytokinesis-block micronucleus assay in maximizing the frequency of binucleated cells by choice of culture medium and calibration of the system exposure to the cytokinesis inhibitor Cytochalasin B, without affecting the basal frequency of micronuclei in the model...
May 2018: Mutation Research
Phouthone Keohavong, Qing Lan, Weimin Gao
Lung cancer mortality in Xuan Wei County (XWC) is among the highest in China. Lung cancer in XWC is associated with exposure, in poorly vented homes, to coal smoke containing high levels of polycyclic aromatic hydrocarbons (PAHs). We have previously investigated mutations in the p53 tumor suppressor gene and the K-ras oncogene in lung carcinomas and in sputum samples from individuals exposed to smoky coal emissions in XWC. This paper summarizes the results concerning p53 and K-ras mutations from these studies, in relation to mutations found in lung cancer patients not exposed to smoky coal emissions...
May 2018: Mutation Research
Javier R Revollo, Azra Dad, Lea P McDaniel, Mason G Pearce, Vasily N Dobrovolsky
Genetic toxicology assays estimate mutation frequencies by phenotypically screening for the activation or inactivation of endogenous or exogenous reporter genes. These reporters can only detect mutations in narrow areas of the genome and their use is often restricted to certain in vitro and in vivo models. Here, we show that Interclonal Genetic Variation (ICGV) can directly identify mutations genome-wide by comparing sequencing data of single-cell clones derived from the same source or organism. Upon ethyl methanesulfonate (EMS) exposure, ICGV detected greater levels of mutation in a dose- and time-dependent manner in E...
May 2018: Mutation Research
Mohammad Sabbir Siddiqui, Maxime Francois, Jane Hecker, Jeffrey Faunt, Michael F Fenech, Wayne R Leifert
An early cellular response to DNA double-strand breaks is the phosphorylation of histone H2AX to form γH2AX. Although increased levels of γH2AX have been reported in neuronal nuclei of Alzheimer's disease (AD) patients, γH2AX responses in the lymphocytes of individuals with mild cognitive impairment (MCI) and AD remain unexplored. In this study, the endogenous γH2AX level was measured, using laser scanning cytometry (LSC) and visual scoring, in lymphocyte nuclei from MCI (n = 18), or AD (n = 20) patients and healthy controls (n = 40)...
May 2018: Mutation Research
Abdurrahim Kocyigit, Eray Metin Guler, Ersin Karatas, Hifa Caglar, Huri Bulut
New in vitro studies have demonstrated that N-acetyl-5-methoxytryptamine (Melatonin) has cytotoxic and apoptotic effects on various cell types although most of the previous investigations document that it is a potent antioxidant. However, the precise molecular mechanism(s) of its effects are not fully elucidated. In this study, we examined dose-dependent cytotoxic, genotoxic, apoptotic and reactive oxygen species (ROS) generating effects of melatonin in human epidermoid carcinoma cells (A-431) and human normal skin fibroblastic cells (CCD-1079Sk)...
May 2018: Mutation Research
Petr Grúz, Masatomi Shimizu, Masami Yamada, Kei-Ichi Sugiyama, Masamitsu Honma
DNA polymerases play a key role in mutagenesis by performing translesion DNA synthesis (TLS). The Y-family of DNA polymerases comprises several evolutionarily conserved families, specializing in TLS of different DNA adducts. Exocyclic etheno and propano DNA adducts are among the most common endogenous DNA lesions induced by lipid peroxidation reactions triggered by oxidative stress. We have investigated the participation of two enterobacterial representatives of the PolIV and PolV branches of Y-family DNA polymerases in mutagenesis by two model lipid peroxidation derived genotoxins, glyoxal and crotonaldehyde...
May 2018: Mutation Research
Alexandros Priftis, Dimitra Mitsiou, Maria Halabalaki, Georgia Ntasi, Dimitrios Stagos, Leandros A Skaltsounis, Demetrios Kouretas
Coffee is a highly consumed beverage throughout the world. Its popularity derives from its organoleptic properties that are a result of the roasting process. Roasting greatly alters a coffee bean's composition and possibly its bioactivity. In the current study, green as well as roasted extracts from both Coffea arabica (Brazil and Decaf) and Coffea canephora (Robusta) species were tested for their antimutagenic activity using the Ames test. In addition, a compositional analysis was conducted to identify the main components, mainly Chlorogenic acid isomers (CGA) and derivatives present in the extracts using UHPLC-ESI(±) and HRMS/MS methods According to the results, all extracts exhibited strong antimutagenic activity against the oxidizing factor tert-Butyl hydroperoxide, a Reactive Oxygen Species-producing compound...
May 2018: Mutation Research
Alexander I Vardavas, Eren Ozcagli, Persefoni Fragkiadaki, Polychronis D Stivaktakis, Manolis N Tzatzarakis, Athanasios K Alegakis, Fotini Vasilaki, Kostas Kaloudis, John Tsiaoussis, Dimitrios Kouretas, Christina Tsitsimpikou, Félix Carvalho, Aristidis M Tsatsakis
Imidacloprid (IMI) is a systemic, chloro-nicotinyl insecticide classified in Regulation N° 1272/2008 of the European Commision as "harmful if swallowed and very toxic to aquatic life, with long-lasting effects". IMI is metabolized in vitro both by aldehyde oxidase (AOX) (reduction) and by cytochrome P450s enzymes (CYPs). In the present study, the AOX inhibitor sodium tungstate dihydrate (ST) was used to elucidate the relative contribution of CYP 450 and AOX metabolic pathways on IMI metabolism, in male rabbits exposed to IMI for two months...
May 2018: Mutation Research
Steve Teo, Wannie Madraymootoo, Emily Dakoulas, Rohan Kulkarni, Marie McKeon
Benzonatate (TESSALON® ) is a peripherally acting oral antitussive. It undergoes rapid ester hydrolysis producing 4-(butylamino) benzoic acid (BBA) and methylated polyethylene glycol (MPG) metabolites, which are eliminated in urine and feces. The nonclinical and clinical efficacy of Benzonatate has been demonstrated over the last 60 years, but its safety was not fully assessed. In this study, we tested the genotoxicity of Benzonatate and its major metabolite BBA in an in vitro bacterial reverse mutation and in vivo micronucleus assays...
May 2018: Mutation Research
Yaoyao Dai, Zhihai Zhang, Lina Xu, Yunfei Shang, Rongrong Lu, Jie Chen
We investigated the association between genetic polymorphisms of IL17A, TLR4 and P2RX7 genes and chronic obstructive pulmonary disease (COPD) in a Han population. We performed a case-control study with 152 COPD subjects from the Third People's Hospital of Nantong in 2015. Healthy controls were selected from a group of people attending the physical examination and were frequency-matched to the cases by sex and age. Genotyping was performed using TaqMan allelic discrimination technology. A logistic regression model was used to calculated odds ratios (OR) and 95% confidence intervals (CI)...
May 2018: Mutation Research
Yang Zou, Jiang-Yan Zhou, Jiu-Bai Guo, Li-Qun Wang, Yong Luo, Zi-Yu Zhang, Fa-Ying Liu, Jun Tan, Feng Wang, Ou-Ping Huang
Endometriosis is a potential premalignant disorder. The underlying molecular aberrations, however, are not fully understood. A recent exome sequencing study found that 25% (10/39) of deep infiltrating endometriosis harbored cancer driver gene mutations. However, it is unclear whether these mutations also exist in ovarian endometriosis. Here, a total of 101 ovarian endometriosis samples were analyzed for the presence of these gene mutations, including KRAS, PPP2R1A, PIK3CA and ARID1A. In addition, 6 other cancer-associated genes (BRAF, NRAS, HRAS, ERK1, ERK2 and PTEN) were also analyzed...
May 2018: Mutation Research
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