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Mutation Research

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https://www.readbyqxmd.com/read/28521962/the-functional-roles-of-pml-nuclear-bodies-in-genome-maintenance
#1
REVIEW
Hae Ryung Chang, Anudari Munkhjargal, Myung-Jin Kim, Seon Young Park, Eunyoung Jung, Jae-Ha Ryu, Young Yang, Jong-Seok Lim, Yonghwan Kim
In the nucleus, there are several membraneless structures called nuclear bodies. Among them, promyelocytic leukemia nuclear bodies (PML-NBs) are involved in multiple genome maintenance pathways including the DNA damage response, DNA repair, telomere homeostasis, and p53-associated apoptosis. In response to DNA damage, PML-NBs are coalesced and divided by a fission mechanism, thus increasing their number. PML-NBs also play a role in repairing DNA double-strand breaks (DSBs) by homologous recombination (HR). Clinically, the dominant negative PML-RARα fusion protein expressed in acute promyelocytic leukemia (APL) inhibits the transactivation of downstream factors and disrupts PML function, revealing the tumor suppressor role of PML-NBs...
May 5, 2017: Mutation Research
https://www.readbyqxmd.com/read/28501645/targeted-sequencing-identifies-novel-variants-involved-in-autosomal-recessive-hereditary-hearing-loss-in-qatari-families
#2
Moza K Alkowari, Diego Vozzi, Shruti Bhagat, Navaneethakrishnan Krishnamoorthy, Anna Morgan, Yousra Hayder, Barathy Logendra, Nehal Najjar, Ilaria Gandin, Paolo Gasparini, Ramin Badii, Giorgia Girotto, Khalid Abdulhadi
Hereditary hearing loss is characterized by a very high genetic heterogeneity. In the Qatari population the role of GJB2, the worldwide HHL major player, seems to be quite limited compared to Caucasian populations. In this study we analysed 18 Qatari families affected by non-syndromic hearing loss using a targeted sequencing approach that allowed us to analyse 81 genes simultaneously. Thanks to this approach, 50% of these families (9 out of 18) resulted positive for the presence of likely causative alleles in 6 different genes: CDH23, MYO6, GJB6, OTOF, TMC1 and OTOA...
May 4, 2017: Mutation Research
https://www.readbyqxmd.com/read/28501329/eukaryotic-dna-replication-orchestrated-action-of-multi-subunit-protein-complexes
#3
REVIEW
Sukhyun Kang, Mi-Sun Kang, Eunjin Ryu, Kyungjae Myung
Genome duplication is an essential process to preserve genetic information between generations. The eukaryotic cell cycle is composed of functionally distinct phases: G1, S, G2, and M. One of the key replicative proteins that participate at every stage of DNA replication is the Mcm2-7 complex, a replicative helicase. In the G1 phase, inactive Mcm2-7 complexes are loaded on the replication origins by replication-initiator proteins, ORC and Cdc6. Two kinases, S-CDK and DDK, convert the inactive origin-loaded Mcm2-7 complex to an active helicase, the CMG complex in the S phase...
May 1, 2017: Mutation Research
https://www.readbyqxmd.com/read/28412438/torsional-stress-promotes-trinucleotidic-expansion-in-spermatids
#4
Olivier Simard, Seyedeh Raheleh Niavarani, Virginie Gaudreault, Guylain Boissonneault
Trinucleotide repeats are involved in various neurodegenerative diseases and are highly unstable both in dividing or non-dividing cells. In Huntington disease (HD), the age of onset of symptoms is inversely correlated to the number of CAG repeats within exon 1 of the HTT gene. HD shows paternal anticipation as CAG repeats are increased during spermatogenesis. CAG expansion were indeed found to be generated during the chromatin remodeling in spermatids where most histones are evicted and replaced by protamines...
April 9, 2017: Mutation Research
https://www.readbyqxmd.com/read/28458064/towards-precision-prevention-technologies-for-identifying-healthy-individuals-with-high-risk-of-disease
#5
Zachary D Nagel, Bevin P Engelward, David J Brenner, Thomas J Begley, Robert W Sobol, Jason H Bielas, Peter J Stambrook, Qingyi Wei, Jennifer J Hu, Mary Beth Terry, Caroline Dilworth, Kimberly A McAllister, Les Reinlib, Leroy Worth, Daniel T Shaughnessy
The rise of advanced technologies for characterizing human populations at the molecular level, from sequence to function, is shifting disease prevention paradigms toward personalized strategies. Because minimization of adverse outcomes is a key driver for treatment decisions for diseased populations, developing personalized therapy strategies represent an important dimension of both precision medicine and personalized prevention. In this commentary, we highlight recently developed enabling technologies in the field of DNA damage, DNA repair, and mutagenesis...
April 6, 2017: Mutation Research
https://www.readbyqxmd.com/read/28431268/assessment-of-mutagenicity-of-water-from-lake-sevan-armenia-with-application-of-tradescantia-clone-02
#6
R E Avalyan, E A Aghajanyan, A Khosrovyan, A L Atoyants, A E Simonyan, R M Aroutiounian
For many decades water resources in Armenia have been affected by anthropogenic activity, therefore, a regular bioindication of genotoxic effects of the water bodies is desirable. The genotoxicity of water samples collected from different parts of Lake Sevan were assessed by means of Trad-SHM (stamen hair mutation) assay using Tradescantia (clone 02). Here we report a significant increase in the frequency of somatic mutations and morphological changes in the Tradescantia inflorescences exposed to the water samples compared to the control...
March 31, 2017: Mutation Research
https://www.readbyqxmd.com/read/28347483/the-legacy-of-william-morgan-the-pnnl-years
#7
Antone L Brooks
No abstract text is available yet for this article.
March 18, 2017: Mutation Research
https://www.readbyqxmd.com/read/28325496/international-organizations-risk-assessment-and-research-why-what-and-how
#8
REVIEW
R Julian Preston
The process of setting radiation protection standards requires the interaction of a number of international and national organizations that in turn require the input of scientific and regulatory experts. Bill Morgan served in an expert capacity for several of these organizations particularly for the application of radiation biology data to risk assessment. He brought great enthusiasm and dedication to these committee efforts. In fact, he really enjoyed this type of service. The United Nations Scientific Committee on the Effects of Atomic Radiation (UNSCEAR), for example, provides comprehensive reviews of the input data for radiation risk assessments...
March 8, 2017: Mutation Research
https://www.readbyqxmd.com/read/28283188/targeted-cytoplasmic-irradiation-and-autophagy
#9
Jinhua Wu, Bo Zhang, Yen-Ruh Wuu, Mercy M Davidson, Tom K Hei
The effect of ionizing irradiation on cytoplasmic organelles is often underestimated because the general dogma considers direct DNA damage in the nuclei to be the primary cause of radiation induced toxicity. Using a precision microbeam irradiator, we examined the changes in mitochondrial dynamics and functions triggered by targeted cytoplasmic irradiation with α-particles. Mitochondrial dysfunction induced by targeted cytoplasmic irradiation led to activation of autophagy, which degraded dysfunctional mitochondria in order to maintain cellular energy homeostasis...
March 1, 2017: Mutation Research
https://www.readbyqxmd.com/read/28477879/nitrative-dna-damage-induced-by-carbon-black-nanoparticles-in-macrophages-and-lung-epithelial-cells
#10
Yusuke Hiraku, Yoshihiro Nishikawa, Ning Ma, Tahmina Afroz, Kosuke Mizobuchi, Ryo Ishiyama, Yuta Matsunaga, Takamichi Ichinose, Shosuke Kawanishi, Mariko Murata
Carbon black (CB) is a nanomaterial used mainly in rubber products. Exposure to CB by inhalation causes malignant lung tumors in experimental animals. CB inhalation may cause chronic inflammation in the respiratory system, leading to carcinogenesis, but the mechanism remains unclear. Reactive oxygen and nitrogen species are generated from inflammatory and epithelial cells under inflammatory conditions, and resulting DNA damage may contribute to carcinogenesis. In this study, we performed immunocytochemistry to determine whether CB exposure induces formation of 8-nitroguanine (8-nitroG), a nitrative DNA lesion formed under inflammatory conditions, in RAW 264...
June 2017: Mutation Research
https://www.readbyqxmd.com/read/28477878/what-is-the-impact-of-gestational-diabetes-mellitus-on-frequency-of-structural-chromosome-aberrations-in-pregnant-women-and-their-offspring
#11
Monika Witczak, Jan Wilczyński, Ewa Gulczyńska, Tomasz Talar, Anna Mordalska, Dobrosława Łopaczyńska, Tomasz Ferenc
Gestational diabetes mellitus (GDM) is defined as carbohydrate intolerance which results in hyperglycemia first diagnosed during pregnancy. It is associated with an increased levels of oxidative stress due to overproduction of reactive oxygen species (ROS). Overproduction of ROS induces protein oxidation, lipid peroxidation and different types of DNA damage. The objective of this study was to determine the frequencies of structural chromosome aberrations (CA) in peripheral blood of pregnant women (mothers) with GDM and in cord blood of their newborns...
June 2017: Mutation Research
https://www.readbyqxmd.com/read/28477877/tp53-mutations-in-p53-negative-dysplastic-urothelial-cells-from-belgian-aan-patients-new-evidence-for-aristolochic-acid-induced-molecular-pathogenesis-and-carcinogenesis
#12
Selda Aydin, Jérôme Ambroise, Jean-Pierre Cosyns, Jean-Luc Gala
The Aristolochic Acid (AA)-specific mutational pattern was recently characterized in urothelial carcinoma (UC) from Belgian AA Nephropathy (AAN) patients (n=5). Besides the A>T transversion hallmark, a specific AA-mutational pattern was found in the TP53 hotspot region in p53-positive immunohistochemistry (IHC) areas and consisted of poly- or multiclonal TP53 alterations and an unusual high prevalence of G>T transversion. In the current study, these data were complemented using the same validated methodology for assessing the complete coding sequence of the TP53 gene in tumor areas stratified according to the percentage of p53-stained cells (i...
June 2017: Mutation Research
https://www.readbyqxmd.com/read/28477876/entrance-surface-dose-and-induced-dna-damage-in-blood-lymphocytes-of-patients-exposed-to-low-dose-and-low-dose-rate-x-irradiation-during-diagnostic-and-therapeutic-interventional-radiology-procedures
#13
Safa Abdul Syed Basheerudeen, Karthik Kanagaraj, M T Jose, Annalakshmi Ozhimuthu, S Paneerselvam, Sudha Pattan, Santhosh Joseph, Venkateswarlu Raavi, Venkatachalam Perumal
The ionizing radiation received by patients and health workers due to radiological imaging may increase the risks of radiation effects, such as cancer and cataracts. We have investigated the dose received by specific areas around the head and related this to DNA damage in the blood lymphocytes of subjects exposed to interventional imaging. The entrance surface doses (ESD) to the forehead, neck, and shoulder were measured with a thermoluminescence dosimeter (CaSO4 disc or polycrystalline powder of lithium tetraborate doped with Mn) and compared with that of dose area product (DAP)...
June 2017: Mutation Research
https://www.readbyqxmd.com/read/28528692/insulin-like-growth-factor-igf-axis-in-cancerogenesis
#14
REVIEW
Aldona Kasprzak, Wojciech Kwasniewski, Agnieszka Adamek, Anna Gozdzicka-Jozefiak
Determination of the role of insulin-like growth factor (IGF) family components in carcinogenesis of several human tumors is based on numerous epidemiological and pre-clinical studies, experiments in vivo and in vitro and on attempts at application of drugs affecting the IGF axis. Investigative hypotheses in original studies were based on biological functions manifested by the entire family of IGF (ligands, receptors, linking proteins, adaptor molecules). In the context of carcinogenesis the most important functions of IGF family involve intensification of proliferation and inhibition of cell apoptosis and effect on cell transformation through synthesis of several regulatory proteins...
April 2017: Mutation Research
https://www.readbyqxmd.com/read/28528691/the-igf-axis-in-hpv-associated-cancers
#15
REVIEW
Adam Pickard, Julia Durzynska, Dennis J McCance, Elisabeth R Barton
Human papillomaviruses (HPV) infect and replicate in stratified epithelium at cutaneous and mucosal surfaces. The proliferation and maintenance of keratinocytes, the cells which make up this epithelium, are controlled by a number of growth factor receptors such as the keratinocyte growth factor receptor (KGFR, also called fibroblast growth factor receptor 2b (FGFR2b)), the epithelial growth factor receptor (EGFR) and the insulin-like growth factor receptors 1 and 2 (IGF1R and IGF2R). In this review, we will delineate the mutation, gene transcription, translation and processing of the IGF axis within HPV associated cancers...
April 2017: Mutation Research
https://www.readbyqxmd.com/read/28528690/clinical-relevance-and-implications-of-hpv-induced-neoplasia-in-different-anatomical-locations
#16
REVIEW
Elena Sophie Prigge, Magnus von Knebel Doeberitz, Miriam Reuschenbach
Human papillomaviruses (HPV) are widespread DNA viruses that can infect epithelial cells of the skin and mucosa. Most HPV infections remain clinically unapparent and clear spontaneously. In few cases, however, HPV infections persist and can cause benign and malignant neoplasms at different anatomic locations. Malignant HPV-induced neoplasms are caused by distinct types of HPV (oncogenic or high-risk (HR) HPV types) and present in the anogenital (anus, penis, uterine cervix, vagina and vulva) and head and neck (particularly oropharynx) region...
April 2017: Mutation Research
https://www.readbyqxmd.com/read/28528689/human-papillomaviruses-in-epigenetic-regulations
#17
REVIEW
Julia Durzynska, Krzysztof Lesniewicz, Elzbieta Poreba
Human Papillomaviruses (HPVs) are double-stranded DNA viruses, that infect epithelial cells and are etiologically involved in the development of human cancer. Today, over 200 types of human papillomaviruses are known. They are divided into low-risk and high-risk HPVs depending on their potential to induce carcinogenesis, driven by two major viral oncoproteins, E6 and E7. By interacting with cellular partners, these proteins are involved in interdependent viral and cell cycles in stratified differentiating epithelium, and concomitantly induce epigenetic changes in infected cells and those undergoing malignant transformation...
April 2017: Mutation Research
https://www.readbyqxmd.com/read/28528688/human-papillomavirus-molecular-biology
#18
REVIEW
Mallory E Harden, Karl Munger
Human papillomaviruses are small DNA viruses with a tropism for squamous epithelia. A unique aspect of human papillomavirus molecular biology involves dependence on the differentiation status of the host epithelial cell to complete the viral lifecycle. A small group of these viruses are the etiologic agents of several types of human cancers, including oral and anogenital tract carcinomas. This review focuses on the basic molecular biology of human papillomaviruses.
April 2017: Mutation Research
https://www.readbyqxmd.com/read/28528687/molecular-mechanisms-underlying-human-papillomavirus-e6-and-e7-oncoprotein-induced-cell-transformation
#19
REVIEW
Suruchi Mittal, Lawrence Banks
Human papillomaviruses (HPVs) are the causative agents of 5% of all human cancers, with cervical cancer being the most important. Two viral oncoproteins, E6 and E7, are essential for the development and maintenance of malignancy. Both proteins function by targeting critical pathways that are essential for maintaining cellular homeostasis. As a consequence of these activities, this produces an environment that is favourable for the normal viral life cycle, but when perturbed, can result in the initiation of changes to the host cell, which ultimately results in the development of a malignancy...
April 2017: Mutation Research
https://www.readbyqxmd.com/read/28528686/hpv-entry-into-cells
#20
REVIEW
Pinar Aksoy, Elinor Y Gottschalk, Patricio I Meneses
Human papillomavirus (HPV) is a sexually transmitted virus responsible for the development of cervical cancer, anal cancer, head and throat cancers, as well as genital area warts. A major focus of current HPV research is on preventing the virus from entering a cell and transferring its genetic material to the nucleus, thus potentially preventing the development of cancer. Although the available HPV vaccines are extremely successful, approximately 15 additional cancer-causing HPVs have been identified that the vaccines do not protect against...
April 2017: Mutation Research
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