Functional Implications of the spectrum of BCL2 mutations in Lymphoma
Publication date: Available online 16 June 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): 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 ...
Source: Mutation Research Reviews in Mutation Research - June 16, 2016 Category: Genetics & Stem Cells Source Type: research

Molecular mechanisms by which in vivo exposure to exogenous chemical genotoxic agents can lead to micronucleus formation in lymphocytes in vivo and ex vivo in humans
Publication date: Available online 7 June 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): Michael Fenech, Siegfried Knasmueller, Claudia Bolognesi, Stefano Bonassi, Nina Holland, Lucia Migliore, Fabrizio Palitti, Adayapalam T. Natarajan, Micheline Kirsch-Volders The purpose of this review is to summarise current knowledge on the molecular mechanisms by which in vivo exposure to exogenous chemical genotoxins in humans induces micronuclei (MNi) and other nuclear anomalies in lymphocytes in vivo and ex vivo after nuclear division in vitro. MNi originate from acentric chromosome fragments and/o...
Source: Mutation Research Reviews in Mutation Research - June 7, 2016 Category: Genetics & Stem Cells Source Type: research

The use of the lymphocyte cytokinesis-block micronucleus assay for monitoring pesticide-exposed populations
Publication date: Available online 26 May 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): Claudia Bolognesi, Nina Holland Pesticides are widely used around the world, and hundreds of millions of people are exposed annually in occupational and environmental settings. Numerous studies have demonstrated relationships between pesticide exposure and increased risk of cancers, neurodegenerative and neurodevelopmental disorders, respiratory diseases and diabetes. Assessment of genotoxicity of pesticides and biomonitoring their effects in exposed populations is critical for a better regulation and protect...
Source: Mutation Research Reviews in Mutation Research - May 26, 2016 Category: Genetics & Stem Cells Source Type: research

Use of the lymphocyte cytokinesis-block micronucleus assay in occupational biomonitoring of genome damage caused by in vivo exposure to chemical genotoxins: past, present and future
This article concerns the use of the lymphocyte cytokinesis-block micronucleus (CBMN) assay in biomonitoring of occupational and environmental exposures to genotoxic agents. Furthermore, we evaluated the use of this method in different exposure scenarios, in comparison to other DNA damage biomarkers and its regional distribution. So far ca. 400 studies have been published and the number increased substantially in the last years. The most frequently investigated groups are hospital personnel, followed by workers in the chemical industry and agricultural workers. The lymphocyte CBMN assay is more frequently used in occupatio...
Source: Mutation Research Reviews in Mutation Research - May 20, 2016 Category: Genetics & Stem Cells Source Type: research

Genotoxicity of Ethylene oxide: A review of micronucleus assay results in human population
Publication date: Available online 20 May 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): Manosij Ghosh, Lode Godderis Ethylene oxide (EtO) has been categorized as “carcinogenic to humans (Group 1)” by the IARC. While several epidemiological studies have reported carcinogenicity and EtO-Hb formation; information from cytogenetic endpoints are rather inconclusive. In the present review, we focus on the results of eleven studies which have reported the results of micronucleus assay in EtO exposed workers. We have critically reviewed these studies based on the exposure assessment, concent...
Source: Mutation Research Reviews in Mutation Research - May 20, 2016 Category: Genetics & Stem Cells Source Type: research

Frequency of micronuclei and other biomarkers of DNA damage in populations exposed to dusts, asbestos and other fibers. A systematic review
Publication date: Available online 20 May 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): Stefano Bonassi, Mirta Milić, Monica Neri Airborne particles are small, solid particles projected into the air either by natural forces, or by mechanical or man-made processes, and include fibers and dusts. Their toxicity is usually subsequent to inhalation and can lead to pulmonary dysfunctions and diseases, including cancer. Cytochalasin B blocked micronucleus assay in lymphocytes (L-CBMN) has been shown as a sensitive and reliable technique in assessing genotoxic exposure, An extensive search of the PubM...
Source: Mutation Research Reviews in Mutation Research - May 20, 2016 Category: Genetics & Stem Cells Source Type: research

Occupational exposure to cytostatic/antineoplastic drugs and cytogenetic damage measured using the lymphocyte cytokinesis-block micronucleus assay: A systematic review of the literature and meta-analysis
In this study, we identified and analyzed the studies published reporting the use of the L-CBMN assay as biomarker of genotoxic risk in health care workers exposed to ANPD with the aim of performing meta-analysis and providing a meta-estimate of the genotoxic effect of exposure. We retrieved 24 studies, published from 1988 to 2015, measuring MN in peripheral blood lymphocytes in health care workers occupationally exposed to ANPD. In 15 out of the 24 studies (62.5%), increased MN frequencies were recognized in exposed subjects as compared to controls. The meta-analysis of MN frequency of the combined studies confirmed an as...
Source: Mutation Research Reviews in Mutation Research - May 11, 2016 Category: Genetics & Stem Cells Source Type: research

Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review
Publication date: Available online 4 May 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): 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...
Source: Mutation Research Reviews in Mutation Research - May 4, 2016 Category: Genetics & Stem Cells Source Type: research

A systematic review of the association between occupational exposure to formaldehyde and effects on chromosomal DNA damage measured using the cytokinesis-block micronucleus assay in lymphocytes.
Publication date: Available online 19 April 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): Michael Fenech, Armen Nersesyan, Siegfried Knasmueller Formaldehyde (FAL) is classified as a Class I carcinogen by the WHO International Agency for Research on Cancer. Therefore, there is a need to validate appropriate methods for detecting its genotoxic effects in vivo in humans. One of the most commonly used methods to measure the genotoxic effects of exposure to environmental chemicals is the lymphocyte cytokinesis-block micronucleus (L-CBMN assay). We performed a systematic review and statistical analy...
Source: Mutation Research Reviews in Mutation Research - April 18, 2016 Category: Genetics & Stem Cells Source Type: research

Role of nucleotide excision repair proteins in response to DNA damage induced by topoisomerase II inhibitors
Publication date: Available online 19 April 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): 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, alterin...
Source: Mutation Research Reviews in Mutation Research - April 18, 2016 Category: Genetics & Stem Cells Source Type: research

DNA and chromosomal damage in medical workers exposed to anaesthetic gases assessed by the lymphocyte Cytokinesis-Block Micronucleus (CBMN) assay. A critical review.
Publication date: Available online 8 April 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): Pavel Vodicka, Ludovit Musak, Giovanni Fiorito, Veronika Vymetalkova, Ludmila Vodickova, Alessio Naccarati The lymphocyte cytokinesis-block micronucleus (CBMN) assay has been applied in hundreds of in vivo biomonitoring studies of humans exposed either environmentally or occupationally to genotoxic chemicals. However, there is an emerging need to re-evaluate the use of MN and other biomarkers within the lymphocyte CBMN cytome assay as quantitative indicators of exposure to main classes of chemical genoto...
Source: Mutation Research Reviews in Mutation Research - April 8, 2016 Category: Genetics & Stem Cells Source Type: research

The ex vivo L-CBMN assay detects significant human exposure to butadiene
Publication date: Available online 6 April 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): Claudia Bolognesi, Micheline Kirsch-Volders 1,3-butadiene (BD), an important industrial chemical used in the production of synthetic rubber and resins and a ubiquitous environmental pollutant, was classified as a human carcinogen by IARC. BD requires metabolic activation to different epoxides that are known to bind to DNA, inducing also DNA-DNA and DNA-protein crosslinks. The DNA damage leading to mutations has been identified as the mode of action of BD. Experimental studies in rodents revealed widely diffe...
Source: Mutation Research Reviews in Mutation Research - April 6, 2016 Category: Genetics & Stem Cells Source Type: research

Results of micronucleus assays with individuals who are occupationally and environmentally exposed to mercury, lead and cadmium
Publication date: Available online 6 April 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): Armen Nersesyan, Michael Kundi, Monika Waldherr, Tahereh Setayesh, Miroslav Mišík, Georg Wultsch, Metka Filipic, Gustavo Barcelos, Siegfried Knasmueller Millions of humans are exposed occupationally or environmentally to lead and mercury compounds. Mercury compounds are less abundant but some of them belong to the most toxic chemicals which are known. We evaluated the literature to find out if these compounds act in humans as genotoxic carcinogens and if their health effects can be predi...
Source: Mutation Research Reviews in Mutation Research - April 6, 2016 Category: Genetics & Stem Cells Source Type: research

Mechanisms of mutagenesis: DNA replication in the presence of DNA damage
Publication date: Available online 7 April 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): 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, E. coli, yeast and human). For a single DNA polymerase, DNA dam...
Source: Mutation Research Reviews in Mutation Research - April 6, 2016 Category: Genetics & Stem Cells Source Type: research

Epigenetic alterations induced by genotoxic occupational and environmental human chemical carcinogens: A systematic literature review
Publication date: Available online 31 March 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): 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...
Source: Mutation Research Reviews in Mutation Research - March 30, 2016 Category: Genetics & Stem Cells Source Type: research

The many faces of histone H3K79 methylation
Publication date: Available online 31 March 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): 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 sile...
Source: Mutation Research Reviews in Mutation Research - March 30, 2016 Category: Genetics & Stem Cells Source Type: research

Biomonitoring of humans exposed to arsenic, chromium, nickel, vanadium, and complex mixtures of metals by using the micronucleus test in lymphocytes
Publication date: Available online 6 March 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): Balasubramanyam Annangi, Stefano Bonassi, Ricard Marcos, Alba Hernández Various metals have demonstrated genotoxic and carcinogenic potential via different mechanisms. Until now, biomonitoring and epidemiological studies have been carried out to assess the genotoxic risk to exposed human populations. In this sense, the use of the micronucleus assay in peripheral blood lymphocytes has proven to be a useful tool to determine increased levels of DNA damage, as a surrogate biomarker of cancer risk. Here...
Source: Mutation Research Reviews in Mutation Research - March 7, 2016 Category: Genetics & Stem Cells Source Type: research

Application of the lymphocyte Cytokinesis-Block Micronucleus Assay to populations exposed to petroleum and its derivatives: results from a systematic review and meta-analysis
In conclusion, according to present findings the use of the CBMN assay in biomonitoring studies could provide objective evidence to guide prioritization of preventive interventions in subjects occupationally exposed to petroleum derivatives, and in particular benzene. (Source: Mutation Research Reviews in Mutation Research)
Source: Mutation Research Reviews in Mutation Research - March 6, 2016 Category: Genetics & Stem Cells Source Type: research

Biomonitoring of genotoxic effects for human exposure to nanomaterials: The challenge ahead
Publication date: Available online 4 March 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): 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 bioma...
Source: Mutation Research Reviews in Mutation Research - March 6, 2016 Category: Genetics & Stem Cells Source Type: research

Molecular genetics of the COL2A1-related disorders
Publication date: Available online 2 March 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): 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 ...
Source: Mutation Research Reviews in Mutation Research - March 3, 2016 Category: Genetics & Stem Cells Source Type: research

DNA damage induced by occupational and environmental exposure to miscellaneous chemicals
Publication date: Available online 11 February 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): Juliana da Silva Epidemiological studies for hazardous situations resulting from the risk of environmental and/or occupational exposure to miscellaneous chemicals present several difficulties. Biomonitoring of human populations can provide an early detection system for the initiation of cell dysregulation in the development of cancer, which would help develop an efficient prevention program. Recently, the cytokinesis-block micronucleus (CBMN) assay in lymphocyte cells has become an important tool for asse...
Source: Mutation Research Reviews in Mutation Research - February 11, 2016 Category: Genetics & Stem Cells Source Type: research

Enigmatic 5-hydroxymethyluracil: Oxidatively modified base, epigenetic mark or both?
Publication date: Available online 9 February 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): 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 oxy...
Source: Mutation Research Reviews in Mutation Research - February 9, 2016 Category: Genetics & Stem Cells Source Type: research

The importance of de novo mutations for pediatric neurological disease—It is not all in utero or birth trauma
Publication date: January–March 2016 Source:Mutation Research/Reviews in Mutation Research, Volume 767 Author(s): 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 ...
Source: Mutation Research Reviews in Mutation Research - January 30, 2016 Category: Genetics & Stem Cells Source Type: research

The comet assay: Reflections on its development, evolution and applications
Publication date: Available online 29 December 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): 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. That journey led to the comet assay. My inspirations, obstacles and successes on the...
Source: Mutation Research Reviews in Mutation Research - January 11, 2016 Category: Genetics & Stem Cells Source Type: research

How Trypanosoma cruzi deals with oxidative stress: Antioxidant defence and DNA repair pathways
Publication date: January–March 2016 Source:Mutation Research/Reviews in Mutation Research, Volume 767 Author(s): 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 wit...
Source: Mutation Research Reviews in Mutation Research - January 11, 2016 Category: Genetics & Stem Cells Source Type: research

The Importance of De Novo Mutations for Pediatric Neurological Disease—It’s not all In Utero or Birth Trauma
Publication date: Available online 4 January 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): 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 t...
Source: Mutation Research Reviews in Mutation Research - January 11, 2016 Category: Genetics & Stem Cells Source Type: research

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
Publication date: Available online 6 January 2016 Source:Mutation Research/Reviews in Mutation Research Author(s): Qiu Guo-Hua 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 r...
Source: Mutation Research Reviews in Mutation Research - January 11, 2016 Category: Genetics & Stem Cells Source Type: research

Genotoxic sensitivity of the developing hematopoietic system
Publication date: Available online 9 December 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): 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 du...
Source: Mutation Research Reviews in Mutation Research - December 9, 2015 Category: Genetics & Stem Cells Source Type: research

Contributions of DNA repair and damage response pathways to the non-linear genotoxic responses of alkylating agents
Publication date: Available online 2 December 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): 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...
Source: Mutation Research Reviews in Mutation Research - December 3, 2015 Category: Genetics & Stem Cells Source Type: research

The Comet assay in insects—Status, prospects and benefits for science
Publication date: Available online 10 November 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): 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 ...
Source: Mutation Research Reviews in Mutation Research - November 13, 2015 Category: Genetics & Stem Cells Source Type: research

The Comet assay in insects – status, prospects and benefits for science
Publication date: Available online 10 November 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): 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 D. 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 understa...
Source: Mutation Research Reviews in Mutation Research - November 10, 2015 Category: Genetics & Stem Cells Source Type: research

Unraveling the mechanisms of extreme radioresistance in prokaryotes: Lessons from nature
Publication date: Available online 4 November 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): 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. Al...
Source: Mutation Research Reviews in Mutation Research - November 4, 2015 Category: Genetics & Stem Cells Source Type: research

The double-edged sword of long non-coding RNA: the role of human brain-specific BC200 RNA in translational control, neurodegenerative diseases, and cancer
Publication date: Available online 2 September 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Patrycja Sosińska, Justyna Mikuła-Pietrasik, Krzysztof Książek The complexity of eukaryotic organisms involves the regulation of gene expression through DNA–protein, RNA–DNA, RNA–RNA, and RNA–protein interactions. The role of RNA molecules in the regulation of genes in higher species has become even more evident with the discovery that about 97% of transcription products are represented by non-protein coding RNAs (ncRNAs) including short ncRNAs and long ncRNAs (lncRNAs). In a...
Source: Mutation Research Reviews in Mutation Research - September 2, 2015 Category: Genetics & Stem Cells Source Type: research

Super DNAging—New insights into DNA integrity, genome stability and telomeres in the oldest old
Publication date: Available online 28 August 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Bernhard Franzke, Oliver Neubauer, Karl-Heinz Wagner Reductions in DNA integrity, genome stability, and telomere length are strongly associated with the aging process, age-related diseases as well as the age-related loss of muscle mass. However, in people reaching an age far beyond their statistical life expectancy the prevalence of diseases, such as cancer, cardiovascular disease, diabetes or dementia, is much lower compared to “averagely” aged humans. These inverse observations in nonagenari...
Source: Mutation Research Reviews in Mutation Research - September 1, 2015 Category: Genetics & Stem Cells Source Type: research

Super DNAging - New insights into DNA integrity, genome stability and telomeres in the oldest old
Publication date: Available online 28 August 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Bernhard Franzke, Oliver Neubauer, Karl-Heinz Wagner Reductions in DNA integrity, genome stability, and telomere length are strongly associated with the aging process, age-related diseases as well as the age-related loss of muscle mass. However, in people reaching an age far beyond their statistical life expectancy the prevalence of diseases, such as cancer, cardiovascular disease, diabetes or dementia, is much lower compared to “averagely” aged humans. These inverse observations in nonagenari...
Source: Mutation Research Reviews in Mutation Research - August 29, 2015 Category: Genetics & Stem Cells Source Type: research

Dietary mycotoxins, co-exposure, and carcinogenesis in humans: Short review
Publication date: Available online 5 August 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Karl De Ruyck, Marthe De Boevre, Inge Huybrechts, Sarah De Saeger Mycotoxins, toxic secondary metabolites of fungi, affect global agriculture so prolifically that they are virtually ubiquitous at some concentration in the average human diet. Studies of in vitro and in vivo toxicity are discussed, leading to investigations of co-exposed mycotoxins, as well as carcinogenic effects. Some of the most common and toxicologically significant mycotoxins, such as the aflatoxins, ochratoxins, fumonisins, deoxynival...
Source: Mutation Research Reviews in Mutation Research - August 16, 2015 Category: Genetics & Stem Cells Source Type: research

Clinical application of micronucleus test in exfoliated buccal cells: a systematic review and metanalysis
Publication date: Available online 5 August 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Claudia Bolognesi, Stefano Bonassi, Siegfried Knasmueller, Michael Fenech, Marco Bruzzone, Cecilia Lando, Marcello Ceppi The micronucleus assay in uncultured exfoliated buccal mucosa cells, involving minimally invasive sampling, was successfully applied to evaluate inhalation and local exposure to genotoxic agents, impact of nutrition and lifestyle factors. The potential use of the assay in clinics to monitor the development of local oral lesions and as an early biomarker for tumors and different chron...
Source: Mutation Research Reviews in Mutation Research - August 7, 2015 Category: Genetics & Stem Cells Source Type: research

Dietary mycotoxins, co-exposure, and carcinogenesis in humans: short review.
Publication date: Available online 5 August 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Karl De Ruyck, Marthe De Boevre, Inge Huybrechts, Sarah De Saeger Mycotoxins, toxic secondary metabolites of fungi, affect global agriculture so prolifically that they are virtually ubiquitous at some concentration in the average human diet. Studies of in vitro and in vivo toxicity are discussed, leading to investigations of co-exposed mycotoxins, as well as carcinogenic effects. Some of the most common and toxicologically significant mycotoxins, such as the aflatoxins, ochratoxins, fumonisins, deoxynival...
Source: Mutation Research Reviews in Mutation Research - August 7, 2015 Category: Genetics & Stem Cells Source Type: research

Genetic mutations strengthen functional association of LAP1 with DYT1 dystonia and muscular dystrophy
Publication date: Available online 5 August 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Sandra Rebelo, Edgar F. da Cruz e Silva, Odete A.B. da Cruz e Silva Lamina-associated polypeptide 1 (LAP1) is a ubiquitously expressed integral protein of the inner nuclear membrane. It interacts physically with lamins, torsinA, emerin and protein phosphatase 1; potentially providing a pivotal mechanism for transducing signals across the inner nuclear membrane. In neurons a functional protein complex is formed, comprising LAP1 and torsinA and in skeletal muscle LAP1 and emerin likewise form a protein compl...
Source: Mutation Research Reviews in Mutation Research - August 7, 2015 Category: Genetics & Stem Cells Source Type: research

Persistent γH2AX: a promising molecular marker of DNA damage and aging
Publication date: Available online 21 July 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Mohammad Sabbir Siddiqui, Maxime François, Michael F. Fenech, Wayne R. Leifert One of the earliest cellular responses to DNA double strand breaks (DSBs) is the phosphorylation of the core histone protein H2AX (termed γH2AX). Persistent γH2AX is the level of γH2AX above baseline, measured at a given time-point beyond which DNA DSBs are normally expected to be repaired (usually persist for days to months). This review summarises the concept of persistent γH2AX in the context of...
Source: Mutation Research Reviews in Mutation Research - July 21, 2015 Category: Genetics & Stem Cells Source Type: research

Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels
Publication date: Available online 5 May 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Karina A. Zeyer , Dieter P. Reinhardt Fibrillins are the major components of microfibrils in the extracellular matrix of elastic and non-elastic tissues. They are multi-domain proteins, containing primarily calcium binding epidermal growth factor-like (cbEGF) domains and 8-cysteine/transforming growth factor-beta binding protein-like (TB) domains. Mutations in the fibrillin-1 gene give rise to Marfan syndrome, a connective tissue disorder with clinical complications in the cardiovascular, skeletal, ocular and ot...
Source: Mutation Research Reviews in Mutation Research - June 17, 2015 Category: Genetics & Stem Cells Source Type: research

Theoretical considerations for thresholds in chemical carcinogenesis
In conclusion, from a theoretical perspective it is reasonable to posit that tolerance to low dose levels exists for each requisite step of tumor formation and these tolerance mechanisms are critical in determining thresholds in chemical carcinogenesis. (Source: Mutation Research Reviews in Mutation Research)
Source: Mutation Research Reviews in Mutation Research - June 17, 2015 Category: Genetics & Stem Cells Source Type: research

J.B.S. Haldane as I knew him, with a brief account of his contribution to mutation research
Publication date: Available online 27 May 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Krishna Dronamraju J.B.S. Haldane made important contributions to several sciences although he did not possess an academic qualification in any branch of science. A classical scholar, who grew up in a scientific household in Oxford, Haldane was taught the principles of scientific experimentation from his childhood by his father, the distinguished physiologist John Scott Haldane. Collaborating with his father, Haldane contributed to respiratory physiology but soon switched to genetics, especially population gene...
Source: Mutation Research Reviews in Mutation Research - June 17, 2015 Category: Genetics & Stem Cells Source Type: research

Response of transposable elements to environmental stressors
Publication date: Available online 30 May 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Isabelle R. Miousse , Marie-Cecile G. Chalbot , Annie Lumen , Alesia Ferguson , Ilias G. Kavouras , Igor Koturbash Transposable elements (TEs) comprise a group of repetitive sequences that bring positive, negative, as well as neutral effects to the host organism. Earlier considered as “junk DNA,” TEs are now well-accepted driving forces of evolution and critical regulators of the expression of genetic information. Their activity is regulated by epigenetic mechanisms, including methylation of DNA and...
Source: Mutation Research Reviews in Mutation Research - June 17, 2015 Category: Genetics & Stem Cells Source Type: research

Conditional mutations in Drosophila melanogaster: On the occasion of the 150th anniversary of G. Mendel's report in Brünn
Publication date: Available online 12 June 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Boris F. Chadov , Nina B. Fedorova , Eugenia V. Chadova The basis for modern genetics was laid by Gregor Mendel. He proposed that traits belonging to the intraspecific variability class be studied. However, individuals of one species possess traits of another class. They are related to intraspecific similarity. Individuals never differ from each other in these traits. By analogy with traits varying within a species and determined by genes, it is conjectured that intraspecific similarity is determined by genes,...
Source: Mutation Research Reviews in Mutation Research - June 17, 2015 Category: Genetics & Stem Cells Source Type: research

Protection of the genome and central protein-coding sequences by non-coding DNA against DNA damage from radiation
Publication date: Available online 28 April 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Qiu Guo-Hua Non-coding DNA comprises a very large proportion of the total genomic content in higher organisms, but its function remains largely unclear. Non-coding DNA sequences constitute the majority of peripheral heterochromatin, which has been hypothesized to be the genome's ‘bodyguard’ against DNA damage from chemicals and radiation for almost four decades. The bodyguard protective function of peripheral heterochromatin in genome defense has been strengthened by the results from numerous rece...
Source: Mutation Research Reviews in Mutation Research - April 28, 2015 Category: Genetics & Stem Cells Source Type: research

Neurotoxicity may be an overlooked consequence of benzo[a]pyrene exposure that is relevant to human health risk assessment
Publication date: Available online 21 March 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Nikolai L. Chepelev , Ivy D. Moffat , Wayne J. Bowers , Carole L. Yauk Benzo[a]pyrene (BaP) is a well-studied environmental compound that requires metabolic activation to have a carcinogenic effect. The neurotoxicity of BaP has received considerably less attention than its carcinogenicity. Environmental exposure to BaP correlates with impaired learning and memory in adults, and poor neurodevelopment in children. We carried out a comprehensive literature review to examine the neurotoxicity of BaP. The data wer...
Source: Mutation Research Reviews in Mutation Research - April 27, 2015 Category: Genetics & Stem Cells Source Type: research

Low-dose ionising radiation and cardiovascular diseases – Strategies for molecular epidemiological studies in Europe
Publication date: Available online 3 April 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Michaela Kreuzer , Anssi Auvinen , Elisabeth Cardis , Janet Hall , Jean-Rene Jourdain , Dominique Laurier , Mark P. Little , Annette Peters , Ken Raj , Nicola S. Russell , Soile Tapio , Wei Zhang , Maria Gomolka It is well established that high-dose ionising radiation causes cardiovascular diseases. In contrast, the evidence for a causal relationship between long-term risk of cardiovascular diseases after moderate doses (0.5–5Gy) is suggestive and weak after low doses (<0.5Gy). However, evidence i...
Source: Mutation Research Reviews in Mutation Research - April 27, 2015 Category: Genetics & Stem Cells Source Type: research

G-quadruplexes: A possible epigenetic target for nutrition
Publication date: Available online 7 April 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Maxime François , Wayne Leifert , Ross Tellam , Michael Fenech G-quadruplexes (G4) are highly stable tetra-stranded secondary DNA structures known to mediate gene regulation. These structures are resolved by DNA helicases and are believed to be a causal factor in the phenotype of premature ageing disorders following mutations in DNA helicase genes. The relevance of G4 structures in ageing may be further implicated by their dynamic relationship with DNA modification mechanisms. When DNA methylation and o...
Source: Mutation Research Reviews in Mutation Research - April 27, 2015 Category: Genetics & Stem Cells Source Type: research

Magnetic Resonance Imaging (MRI): A Review of Genetic Damage Investigations
Publication date: Available online 21 February 2015 Source:Mutation Research/Reviews in Mutation Research Author(s): Vijayalaxmi , Mahsa Fatahi , Oliver Speck Magnetic resonance imaging (MRI) is a powerful, non-invasive diagnostic medical imaging technique widely used to acquire detailed information about anatomy and function of different organs in the body, in both health and disease. It utilizes electromagnetic fields of three different frequency bands: static magnetic field (SMF), time-varying gradient magnetic fields (GMF) in the kHz range and pulsed radiofrequency fields (RF) in the MHz range. There have been some i...
Source: Mutation Research Reviews in Mutation Research - February 22, 2015 Category: Genetics & Stem Cells Source Type: research