ATR kinase inhibition sensitizes quiescent human cells to the lethal effects of cisplatin but increases mutagenesis
Publication date: Available online 17 September 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Rebekah J. Hutcherson, Michael G. KempAbstractThe ATR protein kinase is known to protect cells from DNA damage induced during the replicative phase of the cell cycle. Small molecule ATR kinase inhibitors have therefore been developed to improve the effectiveness of DNA damage-based chemotherapy regimens aimed at killing rapidly proliferating tumor cells. However, whether ATR functions in a similar manner in non-replicating cells has not been examined and is important considering the fa...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - September 18, 2019 Category: Cytology Source Type: research

Mutation, methylation and expression analysis of LIFR gene in Indian breast cancer patients
Publication date: Available online 12 August 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Sumayya Abdul Sattar RealAbstractLIFR functions as a tumor suppressor and metastatic suppressor of breast cancer. The present study investigates the status of LIFR gene in Indian breast cancer patients. A total of 137 breast cancer tissue and 137 adjacent normal tissue which served as controls were analyzed for the mutation by automated DNA sequencing, methylation through methylation-specific polymerase chain reaction and its corresponding expression at mRNA and protein level using real-t...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - August 13, 2019 Category: Cytology Source Type: research

Corrigendum to “Phosphorylation of PTEN at STT motif is associated with DNA damage response” [Mutat. Res./Fundam. Mol. Mech. Mutagen. 770 (December) (2014), 112–119]
Publication date: Available online 26 July 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Sandip Misra, Ananda Mukherjee, Parimal Karmakar (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 27, 2019 Category: Cytology Source Type: research

Molecular Pathogenesis of Gallbladder Cancer: An Update
Publication date: Available online 6 July 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Shravan Kumar Mishra, Niraj Kumari, Narendra KrishnaniAbstractGallbladder carcinoma (GBC) is the most aggressive gastrointestinal malignancy throughout the world, with wide geographical variance. It is the subtype of biliary tract malignancy that has the poorest prognosis and lower survival among all biliary tract malignancies. Various factors are associated with GBC pathogenesis such as environmental, microbial, metabolic and molecular. Chronic inflammation of gallbladder due to presence of...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 8, 2019 Category: Cytology Source Type: research

Nanoscopic analysis of 53BP1, BRCA1 and Rad51 reveals new insights in temporal progression of DNA-repair and pathway choice
Publication date: Available online 28 June 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Benjamin SchwarzAbstractThe accumulation and spatial distribution of 53BP1, BRCA1 and Rad51, key proteins in DNA double-strand break (DSB) repair, was investigated with high temporal resolution over a time span of 24 h, using STED nanoscopy. DNA lesions were induced by irradiation with high-LET (linear energy transfer) α-particles. We show that 53BP1 IRIF formation occurs quickly in almost all cells and after about 6 h the fraction of 53BP1 IRIF positive cells slowly dec...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 29, 2019 Category: Cytology Source Type: research

Editorial Board
Publication date: May 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 815Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 16, 2019 Category: Cytology Source Type: research

The multi-faceted high order polymorphic synergistic interactions among nucleotide excision repair genes increase the risk of lung cancer in North Indians
Publication date: Available online 8 June 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Shweta Lawania, Amrita Singh, Siddharth Sharma, Navneet Singh, Digamber BeheraAbstractIt is evident that gene-gene interactions are pervasive in the determination of the susceptibility of human diseases. Polymorphisms in nucleotide excision repair pathway (NER) genes can cause variations in the repair capacity and therefore, might lead to increase in susceptibility towards lung cancer through complex gene-gene and gene-smoking interactions.Logistic regression analysis, along with high order ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 9, 2019 Category: Cytology Source Type: research

Genetic variants of parp4 gene and parp4p2 pseudogene in patients with multiple primary tumors including thyroid cancer
In conclusion, germline intronic PARP4 variants could be a risk factor for the development of TC, and PARP4P2 pseudogene variations associated with PARP4 down-regulation may confer susceptibility to develop multiple metachronous cancers. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - June 2, 2019 Category: Cytology Source Type: research

In yeast cells arrested at the early S-phase by hydroxyurea, rRNA gene promoters and chromatin are poised for transcription while rRNA synthesis is compromised
This study indicates a hitherto unexplored cellular response to HU, namely altered rRNA synthesis, which could participate to hamper cell division. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 28, 2019 Category: Cytology Source Type: research

Frequent homozygous deletions of the CDKN2A locus in somatic cancer tissues
Publication date: Available online 25 April 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Mr Abdulaziz Hamid, Ruben PetreacaAbstractHere we present and describe data on homozygous deletions (HD) of human CDKN2 A and neighboring regions on the p arm of Chromosome 9 from cancer genome sequences deposited on the online Catalogue of Somatic Mutations in Cancer (COSMIC) database. Although CDKN2 A HDs have been previously described in many cancers, this is a pan-cancer report of these aberrations with the aim to map the distribution of the breakpoints. We find that HDs ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 26, 2019 Category: Cytology Source Type: research

A method for the cell-cycle-specific analysis of radiation-induced chromosome aberrations and breaks
Publication date: Available online 6 April 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Aashish Soni, Tamara Murmann-Konda, George IliakisAbstractThe classical G2-assay is widely used to assess cell-radiosensitivity and cancer phenotype: Cells are exposed to low doses of ionizing-radiation (IR) and collected for cytogenetic- analysis ˜1.5 h later. In this way, chromosome-damage is measured in cells irradiated in G2-phase, without retrieving information regarding kinetics of chromosome-break-repair. Modification of the assay to include analysis at multiple time-poi...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 6, 2019 Category: Cytology Source Type: research

Mutational pressure and natural selection in epidermal growth factor receptor gene during germline and somatic mutagenesis in cancer cells
In this study we investigated nucleotide usage biases along the length of a gene encoding human epidermal growth factor receptor (EGFR) and found out that there had been mutational GC-pressure with stronger asymmetric C-pressure in that gene before the preferable direction of nucleotide mutations changed. Current preferable direction of germline mutations in EGFR gene has been estimated with the help of Ensembl data base of gene variations. Preferable direction of somatic mutations in EGFR gene from cancer cells has been estimated with the help of COSMIC data base. Both germline and somatic mutations in cancer cells have t...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 5, 2019 Category: Cytology Source Type: research

Editorial Board
Publication date: March 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 814Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 7, 2019 Category: Cytology Source Type: research

High concentration of sugars is genotoxic to folate-deficient cells
Publication date: March 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 814Author(s): Xihan Guo, Xueqin Dai, Juan Ni, Neng Cao, Guofang Yang, Jinglun Xue, Xu WangAbstractPatients with type 2 diabetes mellitus (T2DM) are associated with an elevated, but poorly understood baseline of genomic instability (GIN). Expert panels are still debating on whether hyperglycemia is the key element in conferring this high GIN. Since high blood glucose and low blood folate are prevalent in T2DM, we hypothesized that high glucose may work with low folate to induce GIN. Using NCM460, CCD841 and L02 ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 23, 2019 Category: Cytology Source Type: research

Editorial Board
Publication date: January 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 813Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 12, 2019 Category: Cytology Source Type: research

Dimerization defective MODY mutations of hepatocyte nuclear factor 4α
In this report, we present a set of data for the two MODY1 mutations found right at the dimerization interface (L332 P and L328del mutations) which clearly exhibit the disruptive effects of directly affecting dimerization, protein stability, and transcriptional activities. These data reinforced the fact that MODY mutations are loss-of-function mutations and HNF4α dimerization is essential for its optimal function and normal physiology. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 10, 2019 Category: Cytology Source Type: research

High Concentration of Sugars is Genotoxic in Folate Deficient Cells
Publication date: Available online 9 January 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Xihan Guo, Xueqin Dai, Juan Ni, Neng Cao, Guofang Yang, Jinglun Xue, Xu WangAbstractPatients with type 2 diabetes mellitus (T2DM) are associated with an elevated, but poorly understood baseline of genomic instability (GIN). Expert panels are still debating on whether hyperglycemia is the key element in conferring this high GIN. Since high blood glucose and low blood folate are prevalent in T2DM, we hypothesized that high glucose may work with low folate to induce GIN. Using NCM460, CCD841...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 10, 2019 Category: Cytology Source Type: research

Molecular Interactions and Mutational Impact upon Rhodopsin (G90→D90) for Hindering Dark Adaptation of Eye: A Comparative Structural Level Outlook for Signaling Mechanism in Night Blindness
Publication date: Available online 4 January 2019Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Arundhati Banerjee, Sujay RayAbstractFor night blindness, a detailed structural exploration of the interactions among G-protein receptor rhodopsin, transducin and arrestin was performed. Rhodopsin is responsible for dim light vision while a point mutation (G90→D90) results in an adverse change in its photo-transduction. The validated 3D models of the three proteins were utilized, and upon mutation and interactions, rhodopsin attained higher stability (evaluated through thermodynamic ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 5, 2019 Category: Cytology Source Type: research

Targeted sequencing to discover germline variants in the BRCA1 and BRCA2 genes in a Russian population and their association with breast cancer risk
In this study, we performed targeted sequencing of BRCA1/2 in 145 breast cancer (BC) patients with a family history of BRCA-associated cancers and 47 age-matched cancer-free control individuals with or without a family history of cancer. Subjects for this study were recruited in the Voronezh region of the Russian Federation. We found that two polymorphic variants, rs1799967 (BRCA1) and rs4987117 (BRCA2), were strongly associated with the risk of BC. Both variants have not been previously reported as associated with risk of breast cancer. Presence of the rs4987117 variant increases risk of breast cancer onset (OR =&t...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - January 4, 2019 Category: Cytology Source Type: research

Germline variants of BRCA1 and BRCA2 genes in population of Voronezh region of Russian Federation and their association with risk of breast cancer
In this study, we performed whole-gene analysis of BRCA1/2 in 145 breast cancer (BC) patients with family history of BRCA-associated cancers and 47 age-matched cancer-free control individuals with or without family history of cancer. Subjects for study were recruited in the Voronezh region of Russian Federation. We found that two polymorphic variants, rs1799967 (BRCA1) and rs4987117 (BRCA2), were strongly associated with the risk of BC. Both variants were not previously reported as associated with risk of breast cancer. Presence of rs4987117 variant increases risk of breast cancer onset (OR = 2.76, p-value&th...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 30, 2018 Category: Cytology Source Type: research

Eggplant fruits protect against DNA damage and mutations
This study demonstrated that these eggplants seem to be safe for consumption and their extracts could protect against DNA damage. Thus, these eggplants have the potential to provide health benefits associated with prevention or reduced risk of developing chronic diseases, such as cancer. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 22, 2018 Category: Cytology Source Type: research

Mutation analysis of ZP1, ZP2, ZP3 and ZP4 genes in 152 Han Chinese samples with ovarian endometriosis
In conclusion, we identified two novel mutations in the ZP4 gene in 2.0% of Han Chinese patients with ovarian endometriosis for the first time, our results suggested that mutations in ZP4, but not ZP1, ZP2 and ZP3, might play active roles in the pathogenesis of ovarian endometriosis, despite the mutation-carriers present with complex fertility outcomes. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 22, 2018 Category: Cytology Source Type: research

Implication of GATA4 synonymous variants in Congenital Heart Disease: A comprehensive in-silico approach
This study establishes that the synonymous variants are possibly associated with disease phenotype in CHD patients. Comprehensive computational analysis, using well-established web based tools, is suggestive of their potential downstream molecular effects on the structure, stability and expression of GATA4 protein.Graphical Abstract (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 16, 2018 Category: Cytology Source Type: research

Role of Endonuclease III Enzymes in Uracil Repair
This study provides definitive clarification on uracil repair by endo III and reveals that endonuclease III is a G/U-specific UDG that can be viewed as a prototype for the human MBD4 uracil DNA glycosylase. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - December 15, 2018 Category: Cytology Source Type: research

A molecular dynamics based investigation reveals the role of rare Ribonuclease 4 variants in amyotrophic lateral sclerosis susceptibility
Publication date: Available online 29 November 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Aditya K. Padhi, James GomesAbstractMissense mutations in certain genes of the Ribonuclease (RNASE) superfamily cause amyotrophic lateral sclerosis (ALS) through loss of either ribonucleolytic or nuclear translocation or both of these activities. While rare ANG/RNASE5 variants have been previously shown to be ALS causative, it is not yet known if any of the reported rare RNASE4 variants can also trigger ALS. The study aims to understand whether rare variants of RNASE4 can manifest ALS t...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - November 30, 2018 Category: Cytology Source Type: research

Is Level of Acetylation Directly Correlated to Radiation Sensitivity of Cancer Cell?
Publication date: Available online 22 November 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Fengqiu zhang, Qing HuangABSTRACTIt is known that histone deacetylase inhibitors (HDACis) can modify acetylation of tumor cells and affect radiation sensitivity, or, radiosensitivity. While previous studies showed that trichostatin A (TSA, a typical HDACi) could enhance cell acetylation and so be used as radiation-sensitizer in radiotherapy, we questioned if the radiosensitivity is correlated with cellular acetylation directly. So we inspected radiation response of HeLa cells treated wi...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - November 23, 2018 Category: Cytology Source Type: research

Editorial Board
Publication date: November 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 812Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - November 14, 2018 Category: Cytology Source Type: research

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis
In conclusion, these two cases highlight the need of analyzing the inheritance patterns of CGRs, and provide an example of a disease-causing CGR formed through multiple genetic events. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 23, 2018 Category: Cytology Source Type: research

Monitoring early cell damage in physicians who are occupationally exposed to inhalational anesthetics
Publication date: Available online 9 October 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Aline G. Aun, Marjorie A. Golim, Flávia R. Nogueira, Kátina M. Souza, Nayara M. Arruda, José Reinaldo C. Braz, Leandro G. Braz, Mariana G. BrazAbstractWorldwide, millions of professionals who work in operating rooms are occupationally exposed to inhalational anesthetics. Thus, the potential health effects of the continuous exposure to inhalational anesthetics on individuals in the operating room remain a subject of debate. Human biomonitoring is a potentially useful t...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 10, 2018 Category: Cytology Source Type: research

Editorial Board
Publication date: September 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 811Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 5, 2018 Category: Cytology Source Type: research

High serum uric acid is associated with oxidation of nucleosides in patients with type 2 diabetes
Publication date: September 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 811Author(s): Carolina S. Stein, José A.M. de Carvalho, Marta M.M.F. Duarte, Ivana B.M. da Cruz, Melissa O. Premaor, Fabio V. Comim, Maria B. Moretto, Rafael N. MorescoAbstractUric acid presents different roles in an organism, since it can act as an antioxidant or a pro-oxidant molecule. High serum uric acid levels may cause damage to several structures, including nucleic acids and its components. Therefore, in this study the association between increased serum uric acid concentrations and oxidation ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - October 5, 2018 Category: Cytology Source Type: research

Editorial Board
Publication date: July 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 810Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 18, 2018 Category: Cytology Source Type: research

Biological effects of carbon ion beams with various LETs on budding yeast Saccharomyces cerevisiae
Publication date: Available online 7 November 2017Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Youichirou Matuo, Yoshinobu Izumi, Yoshiya Furusawa, Kikuo ShimizuAbstractIt has been established that irradiation with higher linear energy transfer (LET) increases lethality and mutagenicity more than that with lower LET. However, the characteristics specific to carbon ion beam have not yet been elucidated. Yeast cells were irradiated with carbon ions with an LET of 13 or 50 keV/μm, and cell survival and mutation frequency were analyzed. The results, combined with our previous ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Mitochondrial mutations associated with hearing and balance disorders
This study aims to systematically review mitochondrial mutations associated with presbyacusis and suggests preventive measurements to improve the quality of life in older adults. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Eukaryotic DNA damage responses: Homologous recombination factors and ubiquitin modification
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Nam Soo Lee, Soomi Kim, Yong Woo Jung, Hongtae KimAbstractTo prevent genomic instability disorders, cells have developed a DNA damage response. The response involves various proteins that sense damaged DNA, transduce damage signals, and effect DNA repair. In addition, ubiquitin modifications modulate the signaling pathway depending on cellular context. Among various types of DNA damage, double-stranded breaks are highly toxic to genomic integrity. Homologous recombination (HR) repair is an essential...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

The functional roles of PML nuclear bodies in genome maintenance
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Hae Ryung Chang, Anudari Munkhjargal, Myung-Jin Kim, Seon Young Park, Eunyoung Jung, Jae-Ha Ryu, Young Yang, Jong-Seok Lim, Yonghwan KimAbstractIn 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 f...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Editorial Board
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Polymerase bypass of N7-guanine monoadducts of cisplatin, diepoxybutane, and epichlorohydrin
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Jiayu Ye, Caitlin R. Farrington, Julie T. MillardAbstractDNA oligonucleotides containing site-specific N7-guanine monoadducts of cisplatin, diepoxybutane, and epichlorohydrin were used as templates for DNA synthesis by two bacterial DNA polymerases and human polymerase β. These polymerases were able to bypass the lesions effectively, although the efficiency was decreased, with inhibition increasing with the size of the lesion. Fidelity of incorporation was essentially unaltered, suggesting that...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

The first (6-4) photolyase with DNA damage repair activity from the Antarctic microalga Chlamydomonas sp. ICE-L
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Meiling An, Zhou Zheng, Changfeng Qu, Xixi Wang, Hao Chen, Chongli Shi, Jinlai MiaoAbstractThe psychrophilic microalga, Chlamydomonas sp. ICE-L, isolated from floating ice in the Antarctic, one of the most highly UV exposed ecosystems on Earth, displays an efficient DNA photorepair capacity. Here, the first known (6-4) photolyase gene (6-4CiPhr) from C. sp. ICE-L was identified. The 6-4CiPhr encoded 559-amino acid polypeptide with a pI of 8.86, and had a predicted Mw of 64.2 kDa. Real-time PCR was...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Effective discovery of rare variants by pooled target capture sequencing: A comparative analysis with individually indexed target capture sequencing
In this study, we evaluated the sensitivity and specificity of sequencing for pooled DNA samples of multiple individuals (Pool-seq) as a cost-effective and robust approach for rare variant discovery. We comparatively analyzed Pool-seq vs. individual-seq of indexed target capture of up to 960 genes in ∼1000 individuals, followed by independent genotyping validation studies. We found that Pool-seq was as effective and accurate as individual-seq in detecting rare variants and accurately estimating their minor allele frequencies (MAFs). Our results suggest that Pool-seq can be used as an efficient and cost-effective method...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Effect of age at exposure on chromosome abnormalities in MIC-exposed Bhopal population detected 30 years post-disaster
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Bani Bandana Ganguly, Shouvik Mandal, Nalok Banerjee, Nitin N. Kadam, Rita AbbiAbstractFollow-up cytogenetic study was carried out on 145 individuals from areas stratified by Indian Council of Medical Research, for evaluation of the effect of age-at-exposure and its interaction with exposure status on chromosomal aberrations (CA) in blood-lymphocytes. CA was presented as abnormal cell (Abc), aberrations (Abn) and number of aberration/abnormal cell (Abn/Abc), and correlated with age-at-exposure (chil...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

A cautionary note on the mutation frequency in microbial research
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Qi ZhengAbstractThe mutation frequency, also known as the mutant frequency, is an unnormalized quantity, and its normalized counterpart is the mutation rate. Due to historical reasons, the mutation frequency has been a predominant yardstick of microbial mutability in the field of mutator identification. While the mean mutation frequency is infamously erratic, replacing it with the median mutation frequency is not an effective remedy. By encouraging investigators to substitute mutation rates for muta...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

The presence of KRAS, PPP2R1A and ARID1A mutations in 101 Chinese samples with ovarian endometriosis
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Yang Zou, Jiang-Yan Zhou, Jiu-Bai Guo, Li-Qun Wang, Yong Luo, Zi-Yu Zhang, Fa-Ying Liu, Jun Tan, Feng Wang, Ou-Ping HuangAbstractEndometriosis is a potential premalignant disorder. The underlying molecular aberrations, however, are not fully understood. A recent exome sequencing study found that 25% (10/39) of deep infiltrating endometriosis harbored cancer driver gene mutations. However, it is unclear whether these mutations also exist in ovarian endometriosis. Here, a total of 101 ovarian endometr...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Identification of nonsynonymous TP53 mutations in hydatidiform moles
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Ka-Kui Chan, Esther Shuk-Ying Wong, Oscar Gee-Wan Wong, Hextan Yuen-Sheung Ngan, Annie Nga-Yin CheungAbstractHydatidiform mole (HM), an unusual pregnancy with pure or predominant paternal genetic contribution, is the most common form of gestational trophoblastic disease. Most HM regress after uterine evacuation but some will develop into persistent disease or even frank malignancy. Although p53 is highly expressed in HM, TP53 mutations have rarely been detected in previous studies. Here we screened ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Eukaryotic 4Rs: DNA replication, repair, recombination, and damage response
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Kyungjae Myung (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Eukaryotic DNA replication: Orchestrated action of multi-subunit protein complexes
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Sukhyun Kang, Mi-Sun Kang, Eunjin Ryu, Kyungjae MyungAbstractGenome 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 ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

So similar yet so different: The two ends of a double strand break
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Keun P. Kim, Ekaterina V. MirkinAbstractHomologous recombination (HR) is essential for ensuring proper segregation of chromosomes in the first round of meiotic division. HR is also crucial for preserving genomic integrity of somatic cells due to its ability to rescue collapsed replication forks and eliminate deleterious DNA lesions, such as double-strand breaks (DSBs), interstrand crosslinks, and single-strand DNA gaps. Here, we review the early steps of HR (homology search and strand exchange), foc...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Microhomology-mediated end joining: Good, bad and ugly
Publication date: May 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809Author(s): Ja-Hwan Seol, Eun Yong Shim, Sang Eun LeeAbstractDNA double-strand breaks (DSBs) are induced by a variety of genotoxic agents, including ionizing radiation and chemotherapy drugs for treating cancers. The elimination of DSBs proceeds via distinctive error-free and error-prone pathways. Repair by homologous recombination (HR) is largely error-free and mediated by RAD51/BRCA2 gene products. Classical non-homologous end joining (C-NHEJ) requires the Ku heterodimer and can efficiently rejoin breaks, wit...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Pattern of mitochondrial D-loop variations and their relation with mitochondrial encoded genes in pediatric acute myeloid leukemia
Publication date: July 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 810Author(s): Anudishi Tyagi, Raja Pramanik, Sreenivas Vishnubhatla, Safdar Ali, Radhika Bakhshi, Anita Chopra, Archna Singh, Sameer BakhshiAbstractRole of mitochondrial DNA variations, particularly in D loop region, remains investigational in acute myeloid leukaemia (AML). Consecutive 151 pediatric AML patients were prospectively enrolled from June 2013 to August 2016, for evaluating pattern of variations in mitochondrial D-loop region and to determine their association, if any, with expression of mitochondrial...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Prophasing interphase chromatin for assessing genetic damages—The evolution, applications and the future prospects
We present the chronological events of evolution of the PCC technique along with its applications. Also, the limitations of the technique along with the suggestions for further refinement of the PCC technique are discussed. (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research