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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 6, 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 6, 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 6, 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 6, 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 6, 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 6, 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 6, 2018 Category: Genetics & Stem Cells Source Type: research

DNA methylation signatures: Biomarkers of drug and alcohol abuse
Publication date: July–September 2018Source: Mutation Research/Reviews in Mutation Research, Volume 777Author(s): Dolly Mahna, Sanjeev Puri, Shweta SharmaAbstractDNA sequence is a powerful tool that can be used for an individual’s identification and investigation of various abnormalities in the genome. However, recent studies have identified other heritable changes by epigenetic mechanisms that cause changes in gene expression without altering the DNA sequence itself. In particular, DNA methylation mediates long-lasting changes in gene promoters, which makes it an appealing epigenetic mechanism to study variation in me...
Source: Mutation Research Reviews in Mutation Research - July 6, 2018 Category: Genetics & Stem Cells Source Type: research

Multiclonal tumor origin: Evidence and implications
Publication date: July–September 2018Source: Mutation Research/Reviews in Mutation Research, Volume 777Author(s): Barbara L. ParsonsAbstractAn accurate understanding of the clonal origins of tumors is critical for designing effective strategies to treat or prevent cancer and for guiding the field of cancer risk assessment. The intent of this review is to summarize evidence of multiclonal tumor origin and, thereby, contest the commonly held assumption of monoclonal tumor origin. This review describes relevant studies of X chromosome inactivation, analyses of tumor heterogeneity using other markers, single cell sequencing,...
Source: Mutation Research Reviews in Mutation Research - July 6, 2018 Category: Genetics & Stem Cells Source Type: research

Mutational game changer: Chromothripsis and its emerging relevance to cancer
Publication date: July–September 2018Source: Mutation Research/Reviews in Mutation Research, Volume 777Author(s): Monique Nicole Helena Luijten, Jeannie Xue Ting Lee, Karen Carmelina CrastaAbstractIn recent years, the paradigm that genomic abnormalities in cancer cells arise through progressive accumulation of mutational events has been challenged by the discovery of single catastrophic events. One such phenomenon termed chromothripsis, involving massive chromosomal rearrangements arising all at once, has emerged as a major mutational game changer. The strong interest in this process stems from its widespread association...
Source: Mutation Research Reviews in Mutation Research - July 6, 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 - March 19, 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 - March 19, 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: Available online 19 March 2018 Source:Mutation Research/Reviews in Mutation Research Author(s): Martina Magni, Giacomo Buscemi, Laura Zannini Cell 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 its activity. This event promotes the acetylation and activation of p53, a SIRT1 target, and the subsequent induction of p53 dependent ...
Source: Mutation Research Reviews in Mutation Research - March 19, 2018 Category: Genetics & Stem Cells Source Type: research

Genetic alterations affecting the kynurenine pathway and their association with diseases
Publication date: Available online 14 March 2018 Source:Mutation Research/Reviews in Mutation Research Author(s): Fanni Boros, Zsuzsanna Bohár, László Vécsei Tryptophan is metabolized primarily via the kynurenine pathway (KP). The KP involves several enzymes, including indoleamine 2,3-dioxygenase, tryptophan 2,3 dioxygenase (TDO2), kynurenine aminotransferases (KATs), kynurenine monooxigenase (KMO) etc. The majority of metabolites are neuroactive, some of them such as kynurenic acid show neuroprotective effects, while others, for example 3-hydroxy-L-kynurenine and quinolinic acid contribute to free radical product...
Source: Mutation Research Reviews in Mutation Research - March 15, 2018 Category: Genetics & Stem Cells Source Type: research

Role of CTCF in DNA Damage Response
Publication date: Available online 23 February 2018 Source:Mutation Research/Reviews in Mutation Research Author(s): Vinay Singh Tanwar, Cynthia C. Jose, Suresh Cuddapah CCCTC-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 this newly identified role of CTCF in facilitating DNA double-strand ...
Source: Mutation Research Reviews in Mutation Research - February 24, 2018 Category: Genetics & Stem Cells Source Type: research