APOBEC and ADAR deaminases may cause many single nucleotide polymorphisms curated in the OMIM database
Publication date: July 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, Volume 810Author(s): Robyn A. Lindley, Nathan E. HallAbstractCytosine and adenosine deamination events (DNA, RNA substrates) account for most codon-context Targeted Somatic Mutation (TSM) patterns observed in immunoglobulin (Ig) somatic hypermutation (SHM), and in cancer exomes following Ig-SHM-like responses. TSM refers to the process of somatic mutagenesis involving deamination events that results on a dominant type of mutation (e.g., C-to-T), and co-incident at a particular motif (e.g., WRC), and preferentially targ...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Radiomodulatory effects of Aloe vera on hepatic and renal tissues of X-ray irradiated mice
Publication date: Available online 7 July 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Shashi Bala, Neha Arora Chugh, Subhash Chand Bansal, Mohan Lal Garg, Ashwani KoulAbstractThe present study was aimed to explore the protective role of Aloe vera gel extract against hepatic and renal damage caused by X-ray exposure to mice. Male balb/c mice were divided into four groups: control, Aloe vera gel extract [AV] (50 mg/ kg b.w on alternate days for 30 days), X-ray (2 Gy) and AV + X-ray. X-ray irradiation enhanced the serum levels of liver function indices and chromosomal ab...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 10, 2018 Category: Cytology Source Type: research

Improved molecular karyotyping in Glioblastoma
We examined serial resections of glioblastoma (GBM) tumor from the same patient and found low-abundance clones containing CNVs in clinically relevant loci that were not observable using bulk DNA sequencing. We discovered extensive genomic variability in this class of tumor and provide a practical approach for investigating somatic mosaicism.Graphical abstract (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

Radiomodulatory effects of Aloe vera on hepatic and renal tissues of X-ray irradiated mice
Publication date: Available online 7 July 2018Source: Mutation Research/Fundamental and Molecular Mechanisms of MutagenesisAuthor(s): Shashi Bala, Neha Arora Chugh, Subhash Chand Bansal, Mohan Lal Garg, Ashwani KoulAbstractThe present study was aimed to explore the protective role of Aloe vera gel extract against hepatic and renal damage caused by X-ray exposure to mice. Male balb/c mice were divided into four groups: control, Aloe vera gel extract [AV] (50 mg/ kg b.w on alternate days for 30 days), X-ray (2 Gy) and AV + X-ray. X-ray irradiation enhanced the serum levels of liver function indices and chromosomal ab...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 7, 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 fi...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 5, 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 5, 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 5, 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 N7-...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 5, 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 5, 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 f...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - July 5, 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 5, 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 5, 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 5, 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 5, 2018 Category: Cytology Source Type: research