Unravelling the molecular mechanism of mutagenic factors impacting human health

Goyal, K.P.; Goel, Harsh; Baranwal, Pritika; Dixit, Aman; Khan, Fahad; Jha, Niraj Kumar; Kesari, Kavindra Kumar; Pandey, Pratibha; Pandey, Avanish Kumar; Benjamin, Mercilena; Maurya, Ankit; Yadav, Vandana; Sinh, Rana Suryauday; Tanwar, Pranay; Upadhyay, Tarun Kumar; Mittan, Sandeep

doi:10.1007/s11356-021-15442-9

Cited by 14 publications

(8 citation statements)

References 204 publications

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Section: Discussionmentioning

confidence: 99%

“…Accidents like this and many unreported, smaller-scale anthropogenic events occur at a sharply increased rate since the Industrial Revolution. The epigenetic effects of some of these environmental chemicals have been investigated (reviewed in Baccarelli and Bollati 2009, Goyal et al 2022, Hou et al 2012. However, much work still needs to be done to determine the impact of chemically induced mutations on gene expression and alternative splicing.…”

Section: Implications For Understanding the Biological Impacts Of Ant...mentioning

confidence: 99%

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The effects of mutations on gene expression and alternative splicing: a case study of EMS-induced heritable mutations in the microcrustaceanDaphnia

Snyman

2023

Preprint

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Understanding the relationship between mutations and their genomic and phenotypic consequences has been a longstanding goal of evolutionary biology. However, few studies have investigated the impact of mutations on gene expression and alternative splicing on the genome- wide scale. In this study, we aim to bridge this knowledge gap by utilizing whole-genome sequencing data and RNA sequencing data from 16 OPDaphniamutant lines to investigate the effects of EMS-induced mutations on gene expression and alternative splicing. Using rigorous analyses of mutations, expression changes, and alternative splicing, we show that trans-effects are the major contributor to the variance in gene expression and alternative splicing between the wildtype and mutant lines, whereas cis mutations only affected a limited number of genes and do not always alter gene expression. Moreover, we show that there is a significant association between DE genes and exonic mutations, indicating that exonic mutations are an important driver of altered gene expression.

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Section: Discussionmentioning

confidence: 99%

Section: Implications For Understanding the Biological Impacts Of Ant...mentioning

confidence: 99%

The effects of mutations on gene expression and alternative splicing: a case study of EMS-induced heritable mutations in the microcrustaceanDaphnia

Snyman

2023

Preprint

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“…About 10–20% PLWHA have neurologic symptoms as an initial manifestation and the reason for hospitalization 6 , which contribute to high morbidity and mortality in combination antiretroviral therapy (cART)-naive individuals in developing countries 7 , 8 . Except for immune deficiency status, physical and chemical mutagens have been reported to be associated with multiple neurological disorders in humans 9 , 10 . Therefore, early identification of pathogens or exclusion of CNS infection is of great importance to reduce morbidity and mortality, and ultimately prolong the life expectancy or improve quality of life.…”

Section: Introductionmentioning

confidence: 99%

“…About 10-20% PLWHA have neurologic symptoms as an initial manifestation and the reason for hospitalization 6 , which contribute to high morbidity and mortality in combination antiretroviral therapy (cART)-naive individuals in developing countries 7,8 . Except for immune deficiency status, physical and chemical mutagens have been reported to be associated with multiple neurological disorders in humans 9,10 . Therefore, early identification of pathogens or exclusion of CNS infection is of great importance to reduce morbidity and mortality, and ultimately prolong the life expectancy or improve quality of life.For patients with suspected diagnosis of CNS infection, lumbar puncture (LP) is a routine operation and cerebrospinal fluid (CSF) is commonly collected for clinical conventional testing, which are generally limited to CSF routine and biochemical tests, smear, culture and molecular assays 11 .…”

mentioning

confidence: 99%

Metagenomic next-generation sequencing versus traditional laboratory methods for the diagnosis of central nervous system opportunistic infections in HIV-infected Chinese adults

Deng

et al. 2023

Sci Rep

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To evaluate clinical value of metagenomic next-generation sequencing (mNGS) in people living with HIV/AIDS (PLWHA) who had CNS disorders. Cerebrospinal fluid (CSF) samples from 48 PLWHA presenting with CNS disorders were sequenced using mNGS and compared with clinical conventional diagnostic methods. In total, 36/48 ss(75%) patients were diagnosed with pathogen(s) infection by mNGS, and the positive detection proportion by mNGS was higher than that by clinical conventional diagnostic methods (75% vs 52.1%, X2 = 5.441, P = 0.020). Thirteen out of 48 patients (27.1%) were detected with 3–7 pathogens by mNGS. Moreover, 77 pathogen strains were detected, of which 94.8% (73/77) by mNGS and 37.0% (30/77) by clinical conventional methods (X2 = 54.206, P < 0.001). The sensitivity and specificity of pathogens detection by mNGS were 63.9% (23/36) and 66.7% (8/12), respectively, which were superior to that by clinical conventional methods (23/36 vs 9/25, X2 = 4.601, P = 0.032; 8/12 vs 5/23, X2 = 5.029, P = 0.009). The application of mNGS was superior for its ability to detect a variety of unknown pathogens and multiple pathogens infection, and relatively higher sensitivity and specificity in diagnosis of CNS disorders in PLWHA.

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“…Of particular danger are factors that possess mutagenic activity. Environmental mutagens may cause irreversible damage to DNA, disrupt DNA replication and cause mutations leading to various hereditary pathologies, as well as cancer [10,11]. The frequency of spontaneous mutations in normal cells is estimated ranging from 10 -8 to 10 -11 per DNA nucleotide [12].…”

Section: Introductionmentioning

confidence: 99%

Study of the toxic and genotoxic activity of water of lake Kolsai, located on the territory of the Almaty region of the Republic of Kazakhstan

Zhadil

Lovinskaya

Kolumbayeva

et al. 2022

EJE

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An important step in assessing the state of natural environment is the identification of various environmentally hazardous factors that possess toxic, genotoxic and mutagenic activity. The appearance in the environment of a new pollutants and an increase in the concentration of already present physicochemical components that exhibit toxic and genotoxic properties contribute to environmental mutational load on biota. In recent decades, due to the intensification of economic activity and the development of the tourism sector, the anthropogenic load has significantly increased not only on terrestrial, in particular mountain ecosystems, but also on natural water reservoirs. In this regard, the purpose of this study was to investigate the genotoxic, mutagenic and toxic activity of surface water of the freshwater lake Nizhny Kolsai, located on the territory of national park "Kolsai kolderi" in the Kegen district of the Almaty region, Republic of Kazakhstan. For the first time, using a number of test systems (DNA comet method, cytogenetic test for accounting for chromosomal aberrations and biochemical analysis of lipid peroxidation products), water samples taken in 2018 and 2022 (spring-summer period) were studied at the Mus musculus model facility. It was found that water samples induced DNA breaks in cells of bone marrow and spleen of experimental mice, the level of which was significantly higher than in intact animals (p<0.001). Cytogenetic analysis of the bone marrow of mice treated with lake water also showed a statistically significant increase in the frequency of aberrant cells and the number of structural chromosome aberrations per 100 metaphases (p<0.05). A biochemical study of lipid peroxidation products (LPO) in the liver of experimental animals also revealed a statistically significant (p<0.05) increase in the level of lipid hydroperoxide (HPL) and malondialdehyde (MDA). The results obtained indicate the presence in the studied natural surface waters of chemicals with genotoxic, mutagenic and toxic activity.

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Unravelling the molecular mechanism of mutagenic factors impacting human health

Cited by 14 publications

References 204 publications

The effects of mutations on gene expression and alternative splicing: a case study of EMS-induced heritable mutations in the microcrustaceanDaphnia

The effects of mutations on gene expression and alternative splicing: a case study of EMS-induced heritable mutations in the microcrustaceanDaphnia

Metagenomic next-generation sequencing versus traditional laboratory methods for the diagnosis of central nervous system opportunistic infections in HIV-infected Chinese adults

Study of the toxic and genotoxic activity of water of lake Kolsai, located on the territory of the Almaty region of the Republic of Kazakhstan

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