Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Comprehensive molecular testing in patients with high functioning autism spectrum disorder
Publication date: Available online 6 January 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Maria Isabel Alvarez-Mora, Rosa Calvo Escalona, Olga Puig Navarro, Irene Madrigal, Ines Quintela, Jorge Amigo, Dei Martinez-Elurbe, Michaela Linder-Lucht, Gemma Aznar Lain, Angel Carracedo, Montserrat Mila, Laia Rodriguez-Revenga Autism spectrum disorders (ASD) include a range of complex neurodevelopmental disorders with extreme genetic heterogeneity. Exome and target sequencing studies have shown to be an effective tool for the discovery of new ASD genes. The...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 11, 2016 Category: Cytology Source Type: research

Lymphocytes with multiple chromosomal damages in a large cohort of West Siberia residents: results of long-term monitoring
This study reports RC frequency using chromosome aberration (CA) assay in peripheral lymphocytes in the group of 3242 subjects, during a 30-year long follow-up study in a general rural and urban population, children environmentally exposed to radon, occupationally exposed population and lung cancer patients from the Kemerovo region (Siberia, Russian Federation). Results show that the highest RC frequency was present in children environmentally exposed to radon and the lowest in the general urban population. Total frequency of CA did not correlate with frequency of RC. Genotoxic analysis of air and water samples excluded an...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 19, 2015 Category: Cytology Source Type: research

Histone H2AX and the small RNA pathway modulate both non-homologous end-joining and homologous recombination in plants
Publication date: Available online 4 December 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Yiping Qi, Yong Zhang, Joshua A. Baller, Daniel F. Voytas Using a zinc finger nuclease (ZFN) that creates a site-specific DNA double-strand break (DSB) at the endogenous ADH1 locus, we provide genetic evidence that histone H2AX and DSB-induced small RNAs modulate DNA repair by both non-homologous end-joining (NHEJ) and homologous recombination (HR) in the model plant Arabidopsis thaliana . (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 5, 2015 Category: Cytology Source Type: research

“p53 mutation spectrum and its role in prognosis of Oral Cancer patients: A study from Gujarat, West India”
Conclusion We report a very high frequency and a diverse pattern of p53 mutations in cases from this region. Interestingly, three distinct novel mutations in exons 4 and 9 were also observed. Analyzing p53 mutation status in tumor tissues at an early stage could serve as an important prognostic factor. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 3, 2015 Category: Cytology Source Type: research

BRCA1 deficiency increases the sensitivity of ovarian cancer cells to auranofin
Publication date: Available online 28 November 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Deepu Oommen, Dennis Yiannakis, Awadhesh N. Jha Auranofin, a thioredoxin reductase inhibitor and an anti-rheumatic drug is currently undergoing phase 2 clinical studies for repurposing to treat recurrent epithelial ovarian cancer. Previous studies have established that auranofin exerts its cytotoxic activity by increasing the production of reactive oxygen species (ROS). Breast cancer 1, early onset (BRCA1) is a DNA repair protein whose functional status is critical in the pro...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - November 28, 2015 Category: Cytology Source Type: research

The crosstalk between α-irradiated Beas-2B cells and its bystander U937 cells through MAPK and NF-κB signaling pathways
Publication date: Available online 15 November 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Jiamei Fu, Dexiao Yuan, Linlin Xiao, Wenzhi Tu, Chen Dong, Weili Liu, Chunlin Shao Although accumulated evidence suggests that α-particle irradiation induced bystander effect may relevant to lung injury and cancer risk assessment, the exact mechanisms are not yet elucidated. In the present study, a cell co-culture system was used to investigate the interaction between α-particle irradiated human bronchial epithelial cells (Beas-2B) and its bystander macrophage U937 ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - November 17, 2015 Category: Cytology Source Type: research

AACR Precision Medicine Series: Highlights of the Integrating Clinical Genomics and Cancer Therapy Meeting.
Publication date: Available online 3 November 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Elaine Maggi, Cristina Montagna (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - November 4, 2015 Category: Cytology Source Type: research

Oxidative DNA damage is associated with inflammatory response, insulin resistance and microvascular complications in type 2 diabetes
Publication date: Available online 20 October 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Etiane Tatsch, José A.M.De Carvalho, Bruna S. Hausen, Yãnaí S. Bollick, Vanessa D. Torbitz, Thiago Duarte, Rogério Scolari, Marta M.M.F. Duarte, Sílvia W.K. Londero, Rodrigo A. Vaucher, Melissa O. Premaor, Fabio V. Comim, Rafael N. Moresco Urinary markers of nucleic acid oxidation may be useful biomarkers in diabetes. It hasbeen demonstrated that T2DM patients have an increased level of oxidative DNA damage; however, it is unclear whether increased DNA...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 29, 2015 Category: Cytology Source Type: research

An altered redox balance and increased genetic instability characterize primary fibroblasts derived from Xeroderma pigmentosum group A patients
In this study we search for the origin of increased levels of oxidatively generated DNA lesions in XP-A cell genome and then address the question of whether increased oxidative stress might drive genetic instability. We show that XP-A human primary fibroblasts present increased levels and different types of intracellular reactive oxygen species (ROS) as compared to normal fibroblasts, with O2 • and H2O2 being the major reactive species. Moreover, XP-A cells are characterized by decreased reduced glutathione (GSH)/oxidized glutathione (GSSG) ratios as compared to normal fibroblasts. The significant increase of ROS level...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 29, 2015 Category: Cytology Source Type: research

Unirradiated cells rescue cells exposed to ionizing radiation: activation of NF-κB pathway in irradiated cells
Publication date: Available online 23 October 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): R.K.K. Lam, Wei Han, K.N. Yu We studied the involvement of NF-κB pathway activation in the rescue effect in HeLa and NIH/3T3 cells irradiated by α particles. Firstly, upon irradiation by 5 cGy of α particles, for both cell lines, the numbers of 53BP1 foci/cell at 12h post-irradiation were significantly smaller when only 2.5% of the cell population was irradiated as compared to 100% irradiation, which demonstrated the rescue effect. Secondly, we studied the effect of NF-κB ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 29, 2015 Category: Cytology Source Type: research

Microsatellite instability detected in tumor-related genes in C57BL/6J mice with thymic lymphoma induced by N-methyl-N-nitrosourea
We examined 104 tissues from MNU-treated mice using the 64 loci, and found 8 MSI events involved 4 loci in 4 tissues types. The MSI incidence in MMR, DNA repair, and TS genes was 67% (2/3), 0% (0/1) and 40% (2/5), respectively. MSI occurrence in tumor and non-tumor tissues was 5.6% (1/18) and 0% (0/8) and that in metastasis and non-metastasis tissues was 7.1% (1/14) and 9.4% (6/64), showing no significant difference. MSI loci in intronic regions of Atm, Msh6 and p21 and MSI in the 3′UTR of Pms2 were detected in MNU-treated mice. Specifically, we found a loss of heterozygosity in intron of Atm (ATM-8) in one metastasis mo...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 29, 2015 Category: Cytology Source Type: research

Gene-specific DNA methylation of DNMT3B and MTHFR and colorectal adenoma risk
Publication date: December 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 782 Author(s): Vikki Ho, Janet E. Ashbury, Sherryl Taylor, Stephen Vanner, Will D. King DNA methyltransferase 3B (DNMT3B) and methylenetetrahydrofolate reductase (MTHFR) are genes which encode enzymes critical to one-carbon metabolism. Polymorphisms in these genes have been implicated in colorectal cancer etiology; however, epigenetic modifications such as gene-specific DNA methylation also affect gene expression. DNA methylation of DNMT3B and MTHFR was quantified in blood leukocytes using Sequ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 29, 2015 Category: Cytology Source Type: research

Single substitution in bacteriophage T4 RNase H alters the ratio between its exo- and endonuclease activities
Publication date: Available online 24 September 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Natalia Kholod, Dmitry Sivogrivov, Oleg Latypov, Sergey Mayorov, Rafail Kuznitsyn, Andrey V. Kajava, Mikhail Shlyapnikov, Igor Granovsky The article describes substitutions in bacteriophage T4 RNase H which provide so called das-effect. Phage T4 DNA arrest suppression (das) mutations have been described to be capable of partially suppressing the phage DNA arrest phenotype caused by a dysfunction in genes 46 and/or 47 (also known as Mre11/Rad50 complex). Genetic map...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - September 25, 2015 Category: Cytology Source Type: research

Tyrosyl-DNA-Phosphodiesterase I (TDP1) participates in the removal and repair of stabilized-Top2α cleavage complexes in human cells
Publication date: Available online 14 September 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Miguel Angel Borda, Micaela Palmitelli, Gustavo Verón, Marcela González-Cid, Marcelo de Campos Nebel Tyrosyl-DNA-Phosphodiesterase 1 (TDP1) is a DNA repair enzyme that removes irreversible protein-linked 3' DNA complexes, 3' phosphoglycolates, alkylation damage-induced DNA breaks, and 3' deoxyribose nucleosides. In addition to its extended spectrum of substrates, TDP1 interacts with several DNA damage response factors. To determine whether TDP1 participates in the repa...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - September 15, 2015 Category: Cytology Source Type: research

Late-occurring chromosome aberrations and global DNA methylation in hematopoietic stem/progenitor cells of CBA/CaJ mice exposed to silicon (28Si) ions
Publication date: Available online 12 September 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Kanokporn Noy Rithidech, Louise M. Honikel, Paiboon Reungpathanaphong, Montree Tungjai, Witawat Jangiam, Elbert B. Whorton Although myeloid leukemia (ML) is one of the major health concerns from exposure to space radiation, the risk prediction for developing ML is unsatisfactory. To increase the reliability of predicting ML risk, a much improved understanding of space radiation-induced changes in the target cells, i.e. hematopoietic stem/progenitor cells (HSPCs), is im...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - September 13, 2015 Category: Cytology Source Type: research