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Mutation Research. Reviews in Mutation Research

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https://www.readbyqxmd.com/read/27543316/mutations-of-myelodysplastic-syndromes-mds-an-update
#1
REVIEW
Bani Bandana Ganguly, N N Kadam
The plethora of knowledge gained on myelodysplastic syndromes (MDS), a heterogeneous pre-malignant disorder of hematopoietic stem cells, through sequencing of several pathway genes has unveiled molecular pathogenesis and its progression to AML. Evolution of phenotypic classification and risk-stratification based on peripheral cytopenias and blast count has moved to five-tier risk-groups solely concerning chromosomal aberrations. Increased frequency of complex abnormalities, which is associated with genetic instability, defines the subgroup of worst prognosis in MDS...
July 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27543315/the-ubiquitin-family-meets-the-fanconi-anemia-proteins
#2
REVIEW
Xavier Renaudin, Leticia Koch Lerner, Carlos Frederico Martins Menck, Filippo Rosselli
Fanconi anaemia (FA) is a hereditary disorder characterized by bone marrow failure, developmental defects, predisposition to cancer and chromosomal abnormalities. FA is caused by biallelic mutations that inactivate genes encoding proteins involved in replication stress-associated DNA damage responses. The 20 FANC proteins identified to date constitute the FANC pathway. A key event in this pathway involves the monoubiquitination of the FANCD2-FANCI heterodimer by the collective action of at least 10 different proteins assembled in the FANC core complex...
July 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27543314/dna-repair-mechanisms-and-their-clinical-impact-in-glioblastoma
#3
REVIEW
Hélène Erasimus, Matthieu Gobin, Simone Niclou, Eric Van Dyck
Despite surgical resection and genotoxic treatment with ionizing radiation and the DNA alkylating agent temozolomide, glioblastoma remains one of the most lethal cancers, due in great part to the action of DNA repair mechanisms that drive resistance and tumor relapse. Understanding the molecular details of these mechanisms and identifying potential pharmacological targets have emerged as vital tasks to improve treatment. In this review, we introduce the various cellular systems and animal models that are used in studies of DNA repair in glioblastoma...
July 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27543313/functional-implications-of-the-spectrum-of-bcl2-mutations-in-lymphoma
#4
REVIEW
Khushboo Singh, James M Briggs
Mutations in the translocated BCL2 gene are often detected in diffuse large B-cell lymphomas (DLBCLs), indicating both their significance and pervasiveness. Large series genome sequencing of more than 200 DLBCLs has identified frequent BCL2 mutations clustered in the exons coding for the BH4 domain and the folded loop domain (FLD) of the protein. However, BCL2 mutations are mostly contemplated to represent bystander events with negligible functional impact on the pathogenesis of DLBCL. BCL2 arbitrates apoptosis through a classic interaction between its hydrophobic groove forming BH1-3 domains and the BH3 domain of pro-apoptotic members of the BCL2 family...
July 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234565/y-chromosome-b2-b3-deletions-and-male-infertility-a-comprehensive-meta-analysis-trial-sequential-analysis-and-systematic-review
#5
REVIEW
Sandeep Kumar Bansal, Gopal Gupta, Singh Rajender
The correlation of Y-chromosome b2/b3 partial deletions with spermatogenic failure remains dubious. We undertook a systematic review of the literature followed by meta-analyses and trial sequential analyses in order to compare the frequency of b2/b3 deletions between oligo/azoospermic infertile and normozoospermicmen. Out of twenty-four studies reviewed for meta-analysis, twenty reported no correlation between this deletion and male infertility and two studies each reported a direct and inverse correlation...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234564/role-of-nucleotide-excision-repair-proteins-in-response-to-dna-damage-induced-by-topoisomerase-ii-inhibitors
#6
REVIEW
Jaqueline C Rocha, Franciele F Busatto, Temenouga N Guecheva, Jenifer Saffi
In cancer treatment, chemotherapy is one of the main strategies used. The knowledge of the cellular and molecular characteristics of tumors allows the use of more specific drugs, making the removal of tumors more efficient. Among the drugs of choice in these treatments, topoisomerase inhibitors are widely used against different types of tumors. Topoisomerases are enzymes responsible for maintaining the structure of DNA, altering its topological state temporarily during the processes of replication and transcription, in order to avoid supercoiling and entanglements at the double helix...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234563/mechanisms-of-mutagenesis-dna-replication-in-the-presence-of-dna-damage
#7
REVIEW
Binyan Liu, Qizhen Xue, Yong Tang, Jia Cao, F Peter Guengerich, Huidong Zhang
Environmental mutagens cause DNA damage that disturbs replication and produces mutations, leading to cancer and other diseases. We discuss mechanisms of mutagenesis resulting from DNA damage, from the level of DNA replication by a single polymerase to the complex DNA replisome of some typical model organisms (including bacteriophage T7, T4, Sulfolobus solfataricus, Escherichia coli, yeast and human). For a single DNA polymerase, DNA damage can affect replication in three major ways: reducing replication fidelity, causing frameshift mutations, and blocking replication...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234562/the-many-faces-of-histone-h3k79-methylation
#8
REVIEW
Zeenat Farooq, Shahid Banday, Tej K Pandita, Mohammad Altaf
Dot1/DOT1L (disruptor of telomeric silencing-1) is an evolutionarily conserved histone methyltransferase that methylates lysine 79 located within the globular domain of histone H3. Dot1 was initially identified by a genetic screen as a disruptor of telomeric silencing in Saccharomyces cerevisiae; further, it is the only known non-SET domain containing histone methyltransferase. Methylation of H3K79 is involved in the regulation of telomeric silencing, cellular development, cell-cycle checkpoint, DNA repair, and regulation of transcription...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234561/epigenetic-alterations-induced-by-genotoxic-occupational-and-environmental-human-chemical-carcinogens-a-systematic-literature-review
#9
REVIEW
Grace Chappell, Igor P Pogribny, Kathryn Z Guyton, Ivan Rusyn
Accumulating evidence suggests that epigenetic alterations play an important role in chemically-induced carcinogenesis. Although the epigenome and genome may be equally important in carcinogenicity, the genotoxicity of chemical agents and exposure-related transcriptomic responses have been more thoroughly studied and characterized. To better understand the evidence for epigenetic alterations of human carcinogens, and the potential association with genotoxic endpoints, we conducted a systematic review of published studies of genotoxic carcinogens that reported epigenetic endpoints...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234560/biomonitoring-of-genotoxic-effects-for-human-exposure-to-nanomaterials-the-challenge-ahead
#10
REVIEW
Laetitia Gonzalez, Micheline Kirsch-Volders
Exposures to nanomaterials (NMs), with their specific physico-chemical characteristics, are likely to increase over the next years, as their production for industrial, consumer and medical applications is steadily rising. Therefore, there is an urgent need for the implementation of human biomonitoring studies of genotoxic effects after NM exposures in order to monitor and assure safety for workers and the general population. In this review, most commonly used biomarkers of early genetic effects were analyzed for their adequacy after NM exposures...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27234559/molecular-genetics-of-the-col2a1-related-disorders
#11
REVIEW
Hao Deng, Xiangjun Huang, Lamei Yuan
Type II collagen, comprised of three identical alpha-1(II) chains, is the major collagen synthesized by chondrocytes, and is found in articular cartilage, vitreous humour, inner ear and nucleus pulposus. Mutations in the collagen type II alpha-1 gene (COL2A1) have been reported to be responsible for a series of abnormalities, known as type II collagenopathies. To date, 16 definite disorders, inherited in an autosomal dominant or recessive pattern, have been described to be associated with the COL2A1 mutations, and at least 405 mutations ranging from point mutations to complex rearrangements have been reported, though the underlying pathogenesis remains unclear...
April 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27036069/unraveling-the-mechanisms-of-extreme-radioresistance-in-prokaryotes-lessons-from-nature
#12
REVIEW
Athanasia Pavlopoulou, Giannis D Savva, Maria Louka, Pantelis G Bagos, Constantinos E Vorgias, Ioannis Michalopoulos, Alexandros G Georgakilas
The last 50 years, a variety of archaea and bacteria able to withstand extremely high doses of ionizing radiation, have been discovered. Several lines of evidence suggest a variety of mechanisms explaining the extreme radioresistance of microorganisms found usually in isolated environments on Earth. These findings are discussed thoroughly in this study. Although none of the strategies discussed here, appear to be universal against ionizing radiation, a general trend was found. There are two cellular mechanisms by which radioresistance is achieved: (a) protection of the proteome and DNA from damage induced by ionizing radiation and (b) recruitment of advanced and highly sophisticated DNA repair mechanisms, in order to reconstruct a fully functional genome...
January 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27036068/contributions-of-dna-repair-and-damage-response-pathways-to-the-non-linear-genotoxic-responses-of-alkylating-agents
#13
REVIEW
Joanna Klapacz, Lynn H Pottenger, Bevin P Engelward, Christopher D Heinen, George E Johnson, Rebecca A Clewell, Paul L Carmichael, Yeyejide Adeleye, Melvin E Andersen
From a risk assessment perspective, DNA-reactive agents are conventionally assumed to have genotoxic risks at all exposure levels, thus applying a linear extrapolation for low-dose responses. New approaches discussed here, including more diverse and sensitive methods for assessing DNA damage and DNA repair, strongly support the existence of measurable regions where genotoxic responses with increasing doses are insignificant relative to control. Model monofunctional alkylating agents have in vitro and in vivo datasets amenable to determination of points of departure (PoDs) for genotoxic effects...
January 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27036067/the-comet-assay-in-insects-status-prospects-and-benefits-for-science
#14
REVIEW
Maria Augustyniak, Marcin Gladysz, Marta Dziewięcka
The Comet assay has been recently adapted to investigate DNA damage in insects. The first reports of its use in Drosophila melanogaster appeared in 2002. Since then, the interest in the application of the Comet assay to studies of insects has been rapidly increasing. Many authors see substantial potential in the use of the Comet assay in D. melanogaster for medical toxicology studies. This application could allow the testing of drugs and result in an understanding of the mechanisms of action of toxins, which could significantly influence the limited research that has been performed on vertebrates...
January 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27036066/enigmatic-5-hydroxymethyluracil-oxidatively-modified-base-epigenetic-mark-or-both
#15
REVIEW
Ryszard Olinski, Marta Starczak, Daniel Gackowski
The aim of this review is to describe the reactions which lead to generation of 5-hydroxymethyluracil, as well as the repair processes involved in its removal from DNA, and its level in various cells and urine. 5-hydroxymethyluracil may be formed during the course of the two processes: oxidation/hydroxylation of thymine with resultant formation of 5-hydroxymethyluracil paired with adenine (produced by reactive oxygen species), and reacting of reactive oxygen species with 5-methylcytosine forming 5-hydroxymethylcytosine, followed by its deamination to 5-hydroxymethyluracil mispaired with guanine...
January 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27036065/the-importance-of-de-novo-mutations-for-pediatric-neurological-disease-it-is-not-all-in-utero-or-birth-trauma
#16
REVIEW
Robert P Erickson
The advent of next generation sequencing (NGS, which consists of massively parallel sequencing to perform TGS (total genome sequencing) or WES (whole exome sequencing)) has abundantly discovered many causative mutations in patients with pediatric neurological disease. A surprisingly high number of these are de novo mutations which have not been inherited from either parent. For epilepsy, autism spectrum disorders, and neuromotor disorders, including cerebral palsy, initial estimates put the frequency of causative de novo mutations at about 15% and about 10% of these are somatic...
January 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27036064/genome-defense-against-exogenous-nucleic-acids-in-eukaryotes-by-non-coding-dna-occurs-through-crispr-like-mechanisms-in-the-cytosol-and-the-bodyguard-protection-in-the-nucleus
#17
REVIEW
Guo-Hua Qiu
In this review, the protective function of the abundant non-coding DNA in the eukaryotic genome is discussed from the perspective of genome defense against exogenous nucleic acids. Peripheral non-coding DNA has been proposed to act as a bodyguard that protects the genome and the central protein-coding sequences from ionizing radiation-induced DNA damage. In the proposed mechanism of protection, the radicals generated by water radiolysis in the cytosol and IR energy are absorbed, blocked and/or reduced by peripheral heterochromatin; then, the DNA damage sites in the heterochromatin are removed and expelled from the nucleus to the cytoplasm through nuclear pore complexes, most likely through the formation of extrachromosomal circular DNA...
January 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27036063/the-comet-assay-reflections-on-its-development-evolution-and-applications
#18
REVIEW
Narendra P Singh
The study of DNA damage and its repair is critical to our understanding of human aging and cancer. This review reflects on the development of a simple technique, now known as the comet assay, to study the accumulation of DNA damage and its repair. It describes my journey into aging research and the need for a method that sensitively quantifies DNA damage on a cell-by-cell basis and on a day-by-day basis. My inspirations, obstacles and successes on the path to developing this assay and improving its reliability and sensitivity are discussed...
January 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27036062/how-trypanosoma-cruzi-deals-with-oxidative-stress-antioxidant-defence-and-dna-repair-pathways
#19
REVIEW
Alice Machado-Silva, Paula Gonçalves Cerqueira, Viviane Grazielle-Silva, Fernanda Ramos Gadelha, Eduardo de Figueiredo Peloso, Santuza Maria Ribeiro Teixeira, Carlos Renato Machado
Trypanosoma cruzi, the causative agent of Chagas disease, is an obligatory intracellular parasite with a digenetic life cycle. Due to the variety of host environments, it faces several sources of oxidative stress. In addition to reactive oxygen species (ROS) produced by its own metabolism, T. cruzi must deal with high ROS levels generated as part of the host's immune responses. Hence, the conclusion that T. cruzi has limited ability to deal with ROS (based on the lack of a few enzymes involved with oxidative stress responses) seems somewhat paradoxical...
January 2016: Mutation Research. Reviews in Mutation Research
https://www.readbyqxmd.com/read/27036061/genotoxic-sensitivity-of-the-developing-hematopoietic-system
#20
REVIEW
Ion Udroiu, Antonella Sgura
Genotoxic sensitivity seems to vary during ontogenetic development. Animal studies have shown that the spontaneous mutation rate is higher during pregnancy and infancy than in adulthood. Human and animal studies have found higher levels of DNA damage and mutations induced by mutagens in fetuses/newborns than in adults. This greater susceptibility could be due to reduced DNA repair capacity. In fact, several studies indicated that some DNA repair pathways seem to be deficient during ontogenesis. This has been demonstrated also in murine hematopoietic stem cells...
January 2016: Mutation Research. Reviews in Mutation Research
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