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Pattern of Mitochondrial D-loop Variations and their Relation with Mitochondrial Encoded Genes in Pediatric Acute Myeloid Leukemia
Publication date: Available online 24 May 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Anudishi Tyagi, Raja Pramanik, Sreenivas Vishnubhatla, Safdar Ali, Radhika Bakhshi, Anita Chopra, Archna Sing, Sameer Bakhshi Role 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-August 2016, for evaluating pattern of variations in mitochondrial D-loop region and to determine their association, if any, with expression of mitoch...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 24, 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 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809 Author(s): Bani Bandana Ganguly, Shouvik Mandal, Nalok Banerjee, Nitin N. Kadam, Rita Abbi Follow-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 (chi...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 17, 2018 Category: Cytology Source Type: research

Eukaryotic 4Rs: DNA replication, repair, recombination, and damage response
Publication date: Available online 26 April 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Kyungjae Myung (Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis)
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 15, 2018 Category: Cytology Source Type: research

A cautionary note on the mutation frequency in microbial research
Publication date: May 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 809 Author(s): Qi Zheng The 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 mutatio...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 15, 2018 Category: Cytology Source Type: research

The Adenomatous Polyposis Coli (APC) mutation spectra in different anatomical regions of the large intestine in colorectal cancer
Publication date: July 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 810 Author(s): Min Zhang, Da Yang, Barry Gold The enhanced incidence of colorectal cancer (CRC) in the U.S.A. has been linked to promutagens, such as heterocyclic aromatic amines, in the western diet that are produced by high temperature cooking of meat. However, a prior analysis of driver nonsense mutations in the Adenomatous Polyposis Coli (APC) gene, which is mutated in 75% of human CRC, indicated that the C·G → A·T transversions produced by this class of mutagens were not enriched but actually l...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - May 15, 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: Available online 31 March 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Meiling An, Zhou Zheng, Changfeng Qu, Xixi Wang, Hao Chen, Chongli Shi, Jinlai Miao The 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...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - April 1, 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 ~1,000 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 fo...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 31, 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: Available online 29 March 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Bani Bandana Ganguly, Shouvik Mandal, Nalok Banerjee, Nitin N. Kadam, Rita Abbi Follow-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-exp...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 30, 2018 Category: Cytology Source Type: research

Identification of nonsynonymous TP53 mutations in hydatidiform moles
Publication date: Available online 29 March 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Ka-Kui Chan, Esther Shuk-Ying Wong, Oscar Gee-Wan Wong, Hextan Yuen-Sheung Ngan, Annie Nga-Yin Cheung Hydatidiform 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 w...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 30, 2018 Category: Cytology Source Type: research

NOTCH1 modulates activity of DNA-PKcs
Publication date: March 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 808 Author(s): Marek Adamowicz, Fabrizio d’Adda di Fagagna, Jelena Vermezovic DNA-dependent protein kinase catalytic subunit (DNA-PKcs) controls one of the most frequently used DNA repair pathways in a cell, the non-homologous end joining (NHEJ) pathway. However, the exact role of DNA-PKcs in NHEJ remains poorly defined. Here we show that NOTCH1 attenuates DNA-PKcs-mediated autophosphorylation, as well as the phosphorylation of its specific substrate XRCC4. Surprisingly, NOTCH1-expressing cells do not di...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 25, 2018 Category: Cytology Source Type: research

Polymerase Bypass of N7-Guanine Monoadducts of Cisplatin, Diepoxybutane, and Epichlorohydrin
Publication date: Available online 20 March 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Jiayu Ye, Caitlin R. Farrington, Julie T. Millard DNA 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...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 21, 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 - March 11, 2018 Category: Cytology Source Type: research

The presence of KRAS, PPP2R1A and ARID1A mutations in 101 Chinese samples with ovarian endometriosis
Publication date: Available online 9 March 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(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 Huang Endometriosis 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 o...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 10, 2018 Category: Cytology Source Type: research

Is inflammation a direct response to dsDNA breaks?
Publication date: Available online 22 February 2018 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Shahid Chaudhary, Gorantla Venkata Raghuram, Indraneel Mittra Recent research shows that extra-nuclear cell-free chromatin (cfCh) released from dying cells can freely enter into healthy cells and integrate into their genomes. Genomic integration of cfCh leads to dsDNA breaks and activation of inflammatory cytokines both of which occur concurrently with similar kinetics and that induction of inflammation can be abrogated by preventing DNA breaks with the use of cfCh inactivating ag...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 23, 2018 Category: Cytology Source Type: research

Drosophila Bendless catalyzes K63-linked polyubiquitination and is involved in the response to DNA damage
In this study, we report the identification and functional characterization of the Drosophila ben/ubc13 gene, encoding a unique ubiquitin-conjugating enzyme (Ubc or E2), in DNA-damage response. Ben forms a heterodimer with DmUev1a, the only Ubc/E2 variant (Uev) in Drosophila. Ben and DmUev1a act together to catalyze K63-linked polyubiquitination in vitro. ben can functionally rescue the yeast ubc13 null mutant from killing by DNA-damaging agents. We also find that BenP97S, which was previously described to affect the connectivity between the giant fiber and the tergotrochanter motor neuron, fails to interact with the RING ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - February 21, 2018 Category: Cytology Source Type: research