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Epigenetic regulation of DNA repair genes and implications for tumor therapy
Publication date: Available online 7 October 2017Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Markus Christmann, Bernd KainaAbstractDNA repair represents the first barrier against genotoxic stress causing metabolic changes, inflammation and cancer. Besides its role in preventing cancer, DNA repair needs also to be considered during cancer treatment with radiation and DNA damaging drugs as it impacts therapy outcome. The DNA repair capacity is mainly governed by the expression level of repair genes. Alterations in the expression of repair genes can occur due to mutations in their coding or promoter regio...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Nucleosomes regulate base excision repair in chromatin
Publication date: Available online 7 November 2017Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Rithy Meas, John J. Wyrick, Michael J. SmerdonAbstractChromatin is a significant barrier to many DNA damage response (DDR) factors, such as DNA repair enzymes, that process DNA lesions to reduce mutations and prevent cell death; yet, paradoxically, chromatin also has a critical role in many signaling pathways that regulate the DDR. The primary level of DNA packaging in chromatin is the nucleosome core particle (NCP), consisting of DNA wrapped around an octamer of the core histones H2A, H2B, H3 and H4. Here, we...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

The role of H3K79 methylation in transcription and the DNA damage response
Publication date: Available online 16 November 2017Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Mats Ljungman, Luke Parks, Radhika Hulbatte, Karan BediAbstractChromatin plays a critical role in organizing and protecting DNA. However, chromatin acts as an impediment for transcription and DNA repair. Histone modifications, such as H3K79 methylation, promote transcription and genomic stability by enhancing transcription elongation and by serving as landing sites for proteins involved in the DNA damage response. This review summarizes the current understanding of the role of H3K79 methylation in transcripti...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Histone variants in environmental-stress-induced DNA damage repair
Publication date: Available online 21 November 2017Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Danqi Chen, Chunyuan JinAbstractEnvironmental stress such as genotoxic agents can cause DNA damage either indirectly through the generation of reactive oxygen species or directly by interactions with the DNA molecule. Damage to the genetic material may cause mutations and ultimately cancer. Genotoxic mutation can be prevented either by apoptosis or DNA repair. In response to DNA damage, cells have evolved DNA damage responses (DDR) to detect, signal, and repair DNA lesions. Epigenetic mechanisms play critical...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Role of CTCF in DNA damage response
Publication date: Available online 23 February 2018Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Vinay Singh Tanwar, Cynthia C. Jose, Suresh CuddapahAbstractCCCTC-binding factor (CTCF) is a highly conserved, ubiquitously expressed zinc finger protein. CTCF is a multifunctional protein, associated with a number of vital cellular processes such as transcriptional activation, repression, insulation, imprinting and genome organization. Emerging evidence indicates that CTCF is also involved in DNA damage response. In this review, we focus on the newly identified role of CTCF in facilitating DNA double-strand ...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Progress in low dose health risk research: Novel effects and new concepts in low dose radiobiology
Publication date: April–June 2018Source: Mutation Research/Reviews in Mutation Research, Volume 776Author(s): Dietrich Averbeck, Sisko Salomaa, Simon Bouffler, Andrea Ottolenghi, Vere Smyth, Laure SabatierAbstractPeople are more often exposed to low as opposed to high doses of ionising radiation (IR). Knowledge on the health risks associated with exposures to ionising radiation above 100 mGy is quite well established, while lower dose risks are inferred from higher level exposure information (ICRP). The health risk assessments are mainly based on epidemiological data derived from the atomic bombing of Hiroshima and Nag...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Mutagenesis: Interactions with a parallel universe
Publication date: April–June 2018Source: Mutation Research/Reviews in Mutation Research, Volume 776Author(s): Jeffrey H. MillerAbstractUnexpected observations in mutagenesis research have led to a new perspective in this personal reflection based on years of studying mutagenesis. Many mutagens have been thought to operate via a single principal mechanism, with secondary effects usually resulting in only minor changes in the observed mutation frequencies and spectra. For example, we conceive of base analogs as resulting in direct mispairing as their main mechanism of mutagenesis. Recent studies now show that in fact even ...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Editorial Board
Publication date: April–June 2018Source: Mutation Research/Reviews in Mutation Research, Volume 776Author(s): (Source: Mutation Research Reviews in Mutation Research)
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Cell cycle and apoptosis regulator 2 at the interface between DNA damage response and cell physiology
Publication date: April–June 2018Source: Mutation Research/Reviews in Mutation Research, Volume 776Author(s): Martina Magni, Giacomo Buscemi, Laura ZanniniAbstractCell cycle and apoptosis regulator 2 (CCAR2 or DBC1) is a human protein recently emerged as a novel and important player of the DNA damage response (DDR). Indeed, upon genotoxic stress, CCAR2, phosphorylated by the apical DDR kinases ATM and ATR, increases its binding to the NAD+-dependent histone deacetylase SIRT1 and inhibits SIRT1 activity. This event promotes the acetylation and activation of p53, a SIRT1 target, and the subsequent induction of p53 dependen...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Ampullary carcinoma—A genetic perspective
This report can be used as a stepping-stone to establish biomarkers for early diagnosis of AVC and to discover molecular targets for drug therapy. (Source: Mutation Research Reviews in Mutation Research)
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Monogenic diseases in India
This article encompasses a list of all monogenic diseases ever to be reported in India with special focus on five diseases which has been stated to have the highest incidence in India. Here, we discuss about the limited research carried out in India on these high incidence monogenic diseases, the other diseases related to those genes, the range of treatments available for these diseases in India in contrast to its availability around the world and the need to develop treatment strategies to reduce the mortality and morbidity due to these rare but daunting diseases. (Source: Mutation Research Reviews in Mutation Research)
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Genetic alterations affecting the genes encoding the enzymes of the kynurenine pathway and their association with human diseases
Publication date: April–June 2018Source: Mutation Research/Reviews in Mutation Research, Volume 776Author(s): Fanni A. Boros, Zsuzsanna Bohár, László VécseiAbstractTryptophan is metabolized primarily via the kynurenine pathway (KP), which involves several enzymes, including indoleamine 2,3-dioxygenase, tryptophan 2,3 dioxygenase (TDO), kynurenine aminotransferases (KATs), kynurenine monooxygenase (KMO) etc. The majority of metabolites are neuroactive: some of them, such as kynurenic acid, show neuroprotective effects, while others contribute to free radical production, leading to neurodegeneration. Imbalance of the p...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Induction and modulation of genotoxicity by the bacteriome in mammals
Publication date: April–June 2018Source: Mutation Research/Reviews in Mutation Research, Volume 776Author(s): V.G. Druzhinin, L.V. Matskova, A. FucicAbstractThe living environment is a multilevel physical and chemical xenobiotic complex with potentially mutagenic effects and health risks. In addition to inorganic exposures, all terrestrial and aquatic living forms interact with microbiota as selectively established communities of bacteria, viruses and fungi. Along these lines, the human organism should then be considered a “meta-organism” with complex dynamics of interaction between the environment and microbiome. Ba...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

DNA-dependent protein kinase: Epigenetic alterations and the role in genomic stability of cancer
Publication date: Available online 19 June 2018Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Vazhappilly Cijo George, Shabbir Ansari, Vipin Shankar Chelakkot, Ayshwarya Lakshmi Chelakkot, Chaithanya Chelakkot, Varsha Menon, Wafaa Ramadan, Kannatt Radhakrishnan Ethiraj, Raafat El-Awady, Theodora Mantso, Melina Mitsiogianni, Mihalis I. Panayiotidis, Graham Dellaire, H.P. Vasantha RupasingheAbstractDNA-dependent protein kinase (DNA-PK), a member of phosphatidylinositol-kinase family, is a key protein in mammalian DNA double-strand break (DSB) repair that helps to maintain genomic integrity. DNA-PK also play...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research

Rare anemias due to genetic iron metabolism defects
Publication date: Available online 22 June 2018Source: Mutation Research/Reviews in Mutation ResearchAuthor(s): Pierre Brissot, Delphine Bernard, Eolia Brissot, Olivier Loréal, Marie-Bérengère TroadecABSTRACTAnemia is defined by a deficiency of hemoglobin, an iron-rich protein that binds oxygen in the blood. It can be due to multiple causes, either acquired or genetic. Genetic alterations of proteins involved in iron metabolism may be responsible, usually at a young age, for rare forms of chronic and often severe congenital anemia. These diseases encompass a variety of sideroblastic anemias, characterized by the presenc...
Source: Mutation Research Reviews in Mutation Research - July 10, 2018 Category: Genetics & Stem Cells Source Type: research