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DNA double strand break repair, aging and the chromatin connection
Publication date: Available online 15 February 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Vera Gorbunova, Andrei Seluanov Are DNA damage and mutations possible causes or consequences of aging? This question has been hotly debated by biogerontologists for decades. The importance of DNA damage as a possible driver of the aging process went from being widely recognized to then forgotten, and is now slowly making a comeback. DNA double strand breaks (DSBs) are particularly relevant to aging because of their toxicity, increased frequency with age and the association of d...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 17, 2016 Category: Cytology Source Type: research

Aldehydes with high and low toxicities inactivate cells by damaging distinct cellular targets
In this study, we have analysed how saturated and α,β-unsaturated aldehydes exert cytotoxic effects through DNA and protein damage. Interestingly, DNA repair is essential for alleviating the cytotoxic effect of weakly toxic aldehydes such as saturated aldehydes but not highly toxic aldehydes such as long α,β-unsaturated aldehydes. Thus, highly toxic aldehydes inactivate cells exclusively by protein damage. Our data suggest that DNA interstrand crosslinks, but not DNA-protein crosslinks and DNA double-strand breaks, are the critical cytotoxic DNA damage induced by aldehydes. Further, we show that the depletion of intrac...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 17, 2016 Category: Cytology Source Type: research

Simultaneous detection of mutations and copy number variation of NPM1 in the acute myeloid leukemia using multiplex ligation-dependent probe amplification
Publication date: April 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 786 Author(s): Malgorzata Marcinkowska-Swojak, Luiza Handschuh, Pawel Wojciechowski, Michal Goralski, Kamil Tomaszewski, Maciej Kazmierczak, Krzysztof Lewandowski, Mieczyslaw Komarnicki, Jacek Blazewicz, Marek Figlerowicz, Piotr Kozlowski The NPM1 gene encodes nucleophosmin, a protein involved in multiple cell functions and carcinogenesis. Mutation of the NPM1 gene, causing delocalization of the protein, is the most frequent genetic lesion in acute myeloid leukemia (AML); it is conside...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 17, 2016 Category: Cytology Source Type: research

F8 gene mutation profile in Indian hemophilia A patients: identification of 23 novel mutations and Factor VIII inhibitor risk association
Publication date: Available online 10 February 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Patricia Pinto, Kanjaksha Ghosh, Shrimati Shetty ‘FVIII Inhibitors’, especially in severe hemophilia A (HA) patients, is a serious adverse effect that complicates their clinical management. Many genetic and non-genetic risk factors have been proposed for FVIII inhibitor development, diverse in different population groups. This is the first study in Indian hemophiliacs that analyses inhibitor risk in relation to the complete F8 mutation profile, in a case-control study tha...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 11, 2016 Category: Cytology Source Type: research

A new MLPA-based method for the detection of acute myeloid leukemia-specific NPM1 mutations and simultaneous analysis of gene copy number alterations
Publication date: Available online 4 February 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Malgorzata Marcinkowska-Swojak, Luiza Handschuh, Pawel Wojciechowski, Michal Goralski, Kamil Tomaszewski, Maciej Kazmierczak, Krzysztof Lewandowski, Mieczyslaw Komarnicki, Jacek Blazewicz, Marek Figlerowicz, Piotr Kozlowski The NPM1 gene encodes nucleophosmin, a protein involved in multiple cell functions and carcinogenesis. Mutation of the NPM1 gene, causing delocalization of the protein, is the most frequent genetic lesion in acute myeloid leukemia (AML); it ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 4, 2016 Category: Cytology Source Type: research

DNA, the central molecule of aging
Publication date: Available online 2 February 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Peter Lenart, Lumir Krejci Understanding the molecular mechanism of aging could have enormous medical implications. Despite a century of research, however, there is no universally accepted theory regarding the molecular basis of aging. On the other hand, there is plentiful evidence suggesting that DNA constitutes the central molecule in this process. Here, we review the roles of chromatin structure, DNA damage, and shortening of telomeres in aging and propose a hypothesis for ho...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 2, 2016 Category: Cytology Source Type: research

Identification of six novel mutations in BCKDHA gene for classic form of maple syrup urine disease in Iranian patients and their in silico analysis
In this study, two sets of multiplex polymorphic STR (short tandem repeat) markers linked to the above genes were used to aid in homozygosity mapping in order to find probable pathogenic change(s) in the studied families. The families who showed homozygote haplotype for the BCKDHA gene were subsequently sequenced. Our findings showed that exons 2, 4 and 6 contain most of the mutations which are novel. The changes include two single nucleotide deletion (i.e. c. 143delT and c.702delT), one gross deletion covering the whole exon four c.(375±1_376-1)_(884±1_885-1), two splice site changes (c.1167±1G≥T, c. 288±1G≥A), an...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 26, 2016 Category: Cytology Source Type: research

Genetic variants in multisynthetase complex genes are associated with DNA damage levels in Chinese populations
We examined personal 24-h PM2.5 exposure levels and DNA damage levels in peripheral blood lymphocytes for each subject. We found that the variant allele of rs12199241 in AIMP3 was significantly associated with DNA damage levels (β =0.343, 95%CI: 0.133–0.554, P = 0.001). Meanwhile, the results of rs5030754 in EPRS and rs3784929 in KARS indicated their suggestive roles in DNA damage processes (β =0.331, 95%CI: 0.062–0.599, P = 0.016 for rs5030754; β =0.192, 95%CI: 0.016–0.368, P = 0.033 for rs3784929, respectively). After multiple testing, rs12199241 was still significantly associated with DNA damage levels. Comb...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 26, 2016 Category: Cytology Source Type: research

XPC deficiency is related to APE1 and OGG1 expression and function
Publication date: February–March 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volumes 784–785 Author(s): Julliane Tamara Araújo de Melo, Ana Rafaela de Souza Timoteo, Tirzah Braz Petta Lajus, Juliana Alves Brandão, Nadja Cristhina de Souza-Pinto, Carlos Frederico Martins Menck, Anna Campalans, J. Pablo Radicella, Alexandre Teixeira Vessoni, Alysson Renato Muotri, Lucymara Fassarella Agnez-Lima Oxidative DNA damage is considered to be a major cause of neurodegeneration and internal tumors observed in syndromes that result from nucleotide excision repair (...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 24, 2016 Category: Cytology Source Type: research

Genomic stability during cellular reprogramming: mission impossible?
Publication date: Available online 20 January 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Mathieu von Joest, Sabela Bua, Han Li The generation of induced pluripotent stem cells (iPSCs) from adult somatic cells is one of the most exciting discoveries in recent biomedical research. It holds tremendous potential in drug discovery and regenerative medicine. However, a series of reports highlighting genomic instability in iPSCs raises concerns about their clinical application. Although the mechanisms cause genomic instability during cellular reprogramming are largely un...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 22, 2016 Category: Cytology Source Type: research

Polymerase Specific Error Rates and Profiles Identified by Single Molecule Sequencing
Publication date: Available online 19 January 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Matthew S. Hestand, Jeroen Van Houdt, Francesca Cristofoli, Joris R. Vermeesch DNA polymerases have an innate error rate which is polymerase and DNA context specific. Historically the mutational rate and profiles have been measured using a variety of methods, each with their own technical limitations. Here we used the unique properties of single molecule sequencing to evaluate the mutational rate and profiles of six DNA polymerases at the sequence level. In addition to accur...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 19, 2016 Category: Cytology Source Type: research

XPC deficiency is related to APE1 and OGG1 expression and functions
Publication date: Available online 16 January 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Julliane Tamara Araújo de Melo, Ana Rafaela de Souza Timoteo, Tirzah Braz Petta Lajus, Juliana Alves Brandão, Nadja Cristhina de Souza-Pinto, Carlos Frederico Martins Menck, Anna Campalans, J.Pablo Radicella, Alexandre Teixeira Vessoni, Alysson Renato Muotri, Lucymara Fassarella Agnez-Lima Oxidative DNA damage is considered to be a major cause of neurodegeneration and internal tumors observed in syndromes that result from nucleotide excision repair (NER) defi...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 17, 2016 Category: Cytology Source Type: research

Estimation of the minimum mRNA splicing error rate in vertebrates
Publication date: Available online 13 January 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): A. Skandalis The majority of protein coding genes in vertebrates contain several introns that are removed by the mRNA splicing machinery. Errors during splicing can generate aberrant transcripts and degrade the transmission of genetic information thus contributing to genomic instability and disease. However, estimating the error rate of constitutive splicing is complicated by the process of alternative splicing which can generate multiple alternative transcripts per locus and is p...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 14, 2016 Category: Cytology Source Type: research

Extreme dNTP Pool Changes and Hypermutability in dcd ndk Strains
Publication date: Available online 29 December 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Lawrence Tse, Tina Manzhu Kang, Jessica Yuan, Danielle Mihora, Elinne Becket, Katarzyna H. Maslowska, Roel M. Schaaper, Jeffrey H. Miller Cells lacking deoxycytidine deaminase (DCD) have been shown to have imbalances in the normal dNTP pools that lead to multiple phenotypes, including increased mutagenesis, increased sensitivity to oxidizing agents, and to a number of antibiotics. In particular, there is an increased dCTP pool, often accompanied by a decreased dTTP ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 11, 2016 Category: Cytology Source Type: research

Risky Business: Microhomology-Mediated End Joining
Publication date: Available online 2 January 2016 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Supriya Sinha, Diana Villarreal, Eun Yong Shim, Sang Eun Lee Prevalence of microhomology (MH) at the breakpoint junctions in somatic and germ-line chromosomal rearrangements and in the programed immune receptor rearrangements from cells deficient in classical end joining reveals an enigmatic process called MH-mediated end joining (MMEJ). MMEJ repairs DNA double strand breaks (DSBs) by annealing flanking MH and deleting genetic information at the repair junctions from yeast to...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 11, 2016 Category: Cytology Source Type: research