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Journal articles on the topic 'Induced mutations'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Keightley, Peter D., Esther K. Davies, Andrew D. Peters, and Ruth G. Shaw. "Properties of Ethylmethane Sulfonate-Induced Mutations Affecting Life-History Traits in Caenorhabditis elegans and Inferences About Bivariate Distributions of Mutation Effects." Genetics 156, no. 1 (2000): 143–54. http://dx.doi.org/10.1093/genetics/156.1.143.

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Abstract The homozygous effects of ethylmethane sulfonate (EMS)-induced mutations in Caenorhabditis elegans are compared across life-history traits. Mutagenesis has a greater effect on early than late reproductive output, since EMS-induced mutations tend to cause delayed reproduction. Mutagenesis changes the mean and variance of longevity much less than reproductive output traits. Mutations that increase total or early productivity are not detected, but the net effect of mutations is to increase and decrease late productivity to approximately equal extents. Although most mutations decrease lon

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2

Sugiyama, Tomohiko. "Biochemical reconstitution of heat-induced mutational processes." PLOS ONE 19, no. 9 (2024): e0310601. http://dx.doi.org/10.1371/journal.pone.0310601.

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Non-enzymatic spontaneous deamination of 5-methylcytosine, producing thymine, is the proposed etiology of cancer mutational signature 1, which is the most predominant signature in all cancers. Here, the proposed mutational process was reconstituted using synthetic DNA and purified proteins. First, single-stranded DNA containing 5-methylcytosine at CpG context was incubated at an elevated temperature to accelerate spontaneous DNA damage. Then, the DNA was treated with uracil DNA glycosylase to remove uracil residues that were formed by deamination of cytosine. The resulting DNA was then used as

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3

Ram, Yoav, and Lilach Hadany. "Stress-induced mutagenesis and complex adaptation." Proceedings of the Royal Society B: Biological Sciences 281, no. 1792 (2014): 20141025. http://dx.doi.org/10.1098/rspb.2014.1025.

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Because mutations are mostly deleterious, mutation rates should be reduced by natural selection. However, mutations also provide the raw material for adaptation. Therefore, evolutionary theory suggests that the mutation rate must balance between adaptability —the ability to adapt—and adaptedness —the ability to remain adapted. We model an asexual population crossing a fitness valley and analyse the rate of complex adaptation with and without stress-induced mutagenesis (SIM)—the increase of mutation rates in response to stress or maladaptation. We show that SIM increases the rate of complex ada

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4

Szikriszt, Bernadett, Ádám Póti, Orsolya Pipek, et al. "A comprehensive survey of the mutagenic impact of common cancer cytotoxics." Genome Biology 17, no. 1 (2016): 99. https://doi.org/10.1186/s13059-016-0963-7.

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<strong>Background: </strong>Genomic mutations caused by cytotoxic agents used in cancer chemotherapy may cause secondary malignancies as well as contribute to the evolution of treatment-resistant tumour cells. The stable diploid genome of the chicken DT40 lymphoblast cell line, an established DNA repair model system, is well suited to accurately assay genomic mutations.<strong>Results: </strong>We use whole genome sequencing of multiple DT40 clones to determine the mutagenic effect of eight common cytotoxics used for the treatment of millions of patients worldwide. We determine the spontaneou

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5

Keyse, S. M., F. Amaudruz, and R. M. Tyrrell. "Determination of the spectrum of mutations induced by defined-wavelength solar UVB (313-nm) radiation in mammalian cells by use of a shuttle vector." Molecular and Cellular Biology 8, no. 12 (1988): 5425–31. http://dx.doi.org/10.1128/mcb.8.12.5425-5431.1988.

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Mutations induced by UVB (313-nm) radiation, a wavelength in the region of peak effectiveness for sunlight-induced skin cancer in humans, have been analyzed at the sequence level in simian cells by using a plasmid shuttle vector (pZ189). We find that significant differences exist between the types of mutations induced by this solar wavelength and those induced by nonsolar UVC (254-nm) radiation. Compared with 254-nm radiation, 313-nm radiation induces more deletions and insertions in the region sequenced. In addition, although the types of base substitutions induced by the two wavelengths are

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6

Keyse, S. M., F. Amaudruz, and R. M. Tyrrell. "Determination of the spectrum of mutations induced by defined-wavelength solar UVB (313-nm) radiation in mammalian cells by use of a shuttle vector." Molecular and Cellular Biology 8, no. 12 (1988): 5425–31. http://dx.doi.org/10.1128/mcb.8.12.5425.

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Mutations induced by UVB (313-nm) radiation, a wavelength in the region of peak effectiveness for sunlight-induced skin cancer in humans, have been analyzed at the sequence level in simian cells by using a plasmid shuttle vector (pZ189). We find that significant differences exist between the types of mutations induced by this solar wavelength and those induced by nonsolar UVC (254-nm) radiation. Compared with 254-nm radiation, 313-nm radiation induces more deletions and insertions in the region sequenced. In addition, although the types of base substitutions induced by the two wavelengths are

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7

Imai, Yoshiyuki, Benjamin Feldman, Alexander F. Schier, and William S. Talbot. "Analysis of Chromosomal Rearrangements Induced by Postmeiotic Mutagenesis With Ethylnitrosourea in Zebrafish." Genetics 155, no. 1 (2000): 261–72. http://dx.doi.org/10.1093/genetics/155.1.261.

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Abstract Mutations identified in zebrafish genetic screens allow the dissection of a wide array of problems in vertebrate biology. Most screens have examined mutations induced by treatment of spermatogonial (premeiotic) cells with the chemical mutagen N-ethyl-N-nitrosourea (ENU). Treatment of postmeiotic gametes with ENU induces specific-locus mutations at a higher rate than premeiotic regimens, suggesting that postmeiotic mutagenesis protocols could be useful in some screening strategies. Whereas there is extensive evidence that ENU induces point mutations in premeiotic cells, the range of mu

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8

DuBridge, R. B., P. Tang, H. C. Hsia, P. M. Leong, J. H. Miller, and M. P. Calos. "Analysis of mutation in human cells by using an Epstein-Barr virus shuttle system." Molecular and Cellular Biology 7, no. 1 (1987): 379–87. http://dx.doi.org/10.1128/mcb.7.1.379-387.1987.

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We developed highly sensitive shuttle vector systems for detection of mutations formed in human cells using autonomously replicating derivatives of Epstein-Barr virus (EBV). EBV vectors carrying the bacterial lacI gene as the target for mutation were established in human cells and later returned to Escherichia coli for rapid detection and analysis of lacI mutations. The majority of the clonal cell lines created by establishment of the lacI-EBV vector show spontaneous LacI- frequencies of less than 10(-5) and are suitable for studies of induced mutation. The ability to isolate clonal lines repr

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9

DuBridge, R. B., P. Tang, H. C. Hsia, P. M. Leong, J. H. Miller, and M. P. Calos. "Analysis of mutation in human cells by using an Epstein-Barr virus shuttle system." Molecular and Cellular Biology 7, no. 1 (1987): 379–87. http://dx.doi.org/10.1128/mcb.7.1.379.

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We developed highly sensitive shuttle vector systems for detection of mutations formed in human cells using autonomously replicating derivatives of Epstein-Barr virus (EBV). EBV vectors carrying the bacterial lacI gene as the target for mutation were established in human cells and later returned to Escherichia coli for rapid detection and analysis of lacI mutations. The majority of the clonal cell lines created by establishment of the lacI-EBV vector show spontaneous LacI- frequencies of less than 10(-5) and are suitable for studies of induced mutation. The ability to isolate clonal lines repr

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10

Lambert, I. B., A. J. Gordon, B. W. Glickman, and D. R. McCalla. "The influence of local DNA sequence and DNA repair background on the mutational specificity of 1-nitroso-8-nitropyrene in Escherichia coli: inferences for mutagenic mechanisms." Genetics 132, no. 4 (1992): 911–27. http://dx.doi.org/10.1093/genetics/132.4.911.

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Abstract We have examined the mutational specificity of 1-nitroso-8-nitropyrene (1,8-NONP), an activated metabolite of the carcinogen 1,8-dinitropyrene, in the lacI gene of Escherichia coli strains which differ with respect to nucleotide excision repair (+/- delta uvrB) and MucA/B-mediated error-prone translesion synthesis (+/- pKM101). Several different classes of mutation were recovered, of which frameshifts, base substitutions, and deletions were clearly induced by 1,8-NONP treatment. The high proportion of point mutations (&gt; 92%) which occurred at G.C sites correlates with the perce

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11

U C, KAR, and SWAIN D. "Induced chlorophyll and macro-mutational spectrum and frequency in sesame cv.B 67." Madras Agricultural Journal 90, December (2003): 625–32. http://dx.doi.org/10.29321/maj.10.a00149.

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Seed treatment of sesame cv.B67, with EMS, NG, Gamma rays, Gamma rays EMS and Gamma rays+ NG induced five types of chlorophyll mutations and 17 types of viable macro-mutations in M,. Chlorophyll mutation frequency was the highest in 900 Gy gamma rays for single mutagen treatments and in 700 Gy + 0.04% NG for combined treatments. Macro-mutational frequencies for single and combined treatments were the highest in 0.25% EMS and 700 Gy 0.02% NG, respectively. Relative difference in mutability of gene loci for chlorophyll and macro-mutations with respect to different mutagens were clearly observed.

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12

Watters, M. K., and D. R. Stadler. "Spontaneous mutation during the sexual cycle of Neurospora crassa." Genetics 139, no. 1 (1995): 137–45. http://dx.doi.org/10.1093/genetics/139.1.137.

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Abstract The DNA sequences of 42 spontaneous mutations of the mtr gene in Neurospora crassa have been determined. The mutants were selected among sexual spores to represent mutations arising in the sexual cycle. Three sexual-cycle-specific mutational classes are described: hotspot mutants, spontaneous repeat-induced point mutation (RIPs) and mutations occurring during a mutagenic phase of the sexual cycle. Together, these three sexual-cycle-specific mutational classes account for 50% of the mutations in the sexual-cycle mutational spectrum. One third of all mutations occurred at one of two mut

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13

Oldreive, Ceri, Nick Davies, Anna Skowronska, et al. "Kinetics of CLL Subclonal Architecture: Spontaneous Disease Progression or Treatment-Induced Selection?" Blood 126, no. 23 (2015): 167. http://dx.doi.org/10.1182/blood.v126.23.167.167.

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Abstract Recent advances in whole genome assessment have highlighted the presence of marked intraclonal heterogeneity in chronic lymphocytic leukaemia (CLL). It has been suggested that this heterogeneity plays an important role in disease progression and that treatment may facilitate the outgrowth of CLL subclones with a high proliferative advantage. Recent years have also seen the development of a number of novel therapeutic approaches for CLL, including a range of targeted treatments as well as immunochemotherapy. Consequently, there is a need to assess the effects that various treatments ha

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14

Liu, Vivian F., Dipa Bhaumik, and Teresa S. F. Wang. "Mutator Phenotype Induced by Aberrant Replication." Molecular and Cellular Biology 19, no. 2 (1999): 1126–35. http://dx.doi.org/10.1128/mcb.19.2.1126.

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ABSTRACT We have identified thermosensitive mutants of fiveSchizosaccharomyces pombe replication proteins that have a mutator phenotype at their semipermissive temperatures. Allele-specific mutants of DNA polymerase δ (polδ) and mutants of Polα, two Polδ subunits, and ligase exhibited increased rates of deletion of sequences flanked by short direct repeats. Deletion of rad2 +, which encodes a nuclease involved in processing Okazaki fragments, caused an increased rate of duplication of sequences flanked by short direct repeats. The deletion mutation rates of all the thermosensitive replication

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15

Windpessl, Martin, Marco Ritelli, Manfred Wallner, and Marina Colombi. "A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia." American Journal of Nephrology 43, no. 4 (2016): 245–50. http://dx.doi.org/10.1159/000445845.

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Background: Hereditary renal hypouricemia (RHUC) is a genetically heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA; acute kidney injury (AKI) and nephrolithiasis are recognized complications. Type 1 (RHUC1) is caused by mutations in the SLC22A12 gene, whereas RHUC2 is caused by mutations in the SLC2A9 gene. Patient ethnicity is diverse but only few Caucasian families with an SLC2A9 mutation have been reported. Methods: The current report describes the clinical history, biochemical and molecular genet

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16

Keightley, Peter D., and Ohmi Ohnishi. "EMS-Induced Polygenic Mutation Rates for Nine Quantitative Characters in Drosophila melanogaster." Genetics 148, no. 2 (1998): 753–66. http://dx.doi.org/10.1093/genetics/148.2.753.

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Abstract Polygenic mutations were induced by treating Drosophila melanogaster adult males with 2.5 mm EMS. The treated second chromosomes, along with untreated controls, were then made homozygous, and five life history, two behavioral, and two morphological traits were measured. EMS mutagenesis led to reduced performance for life history traits. Changes in means and increments in genetic variance were relatively much higher for life history than for morphological traits, implying large differences in mutational target size. Maximum likelihood was used to estimate mutation rates and parameters

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17

Zhao, Linjie, Tanlin Sun, Jianfeng Pei, and Qi Ouyang. "Mutation-induced protein interaction kinetics changes affect apoptotic network dynamic properties and facilitate oncogenesis." Proceedings of the National Academy of Sciences 112, no. 30 (2015): E4046—E4054. http://dx.doi.org/10.1073/pnas.1502126112.

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It has been a consensus in cancer research that cancer is a disease caused primarily by genomic alterations, especially somatic mutations. However, the mechanism of mutation-induced oncogenesis is not fully understood. Here, we used the mitochondrial apoptotic pathway as a case study and performed a systematic analysis of integrating pathway dynamics with protein interaction kinetics to quantitatively investigate the causal molecular mechanism of mutation-induced oncogenesis. A mathematical model of the regulatory network was constructed to establish the functional role of dynamic bifurcation

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18

HALLIGAN, DANIEL L., ANDREW D. PETERS, and PETER D. KEIGHTLEY. "Estimating numbers of EMS-induced mutations affecting life history traits in Caenorhabditis elegans in crosses between inbred sublines." Genetical Research 82, no. 3 (2003): 191–205. http://dx.doi.org/10.1017/s0016672303006499.

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Inbred lines of the nematode Caenorhabditis elegans containing independent EMS-induced mutations were crossed to the ancestral wild-type strain (N2). Replicated inbred sublines were generated from the F1 offspring under conditions of minimal selection and, along with the N2 and mutant progenitor lines, were assayed for several fitness correlates including relative fitness (w). A modification of the Castle–Wright estimator and a maximum-likelihood (ML) method were used to estimate the numbers and effects of detectable mutations affecting these characters. The ML method allows for variation in m

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19

Faden, Daniel L., Krystle A. Lang Kuhs, Maoxuan Lin, et al. "APOBEC Mutagenesis Is Concordant between Tumor and Viral Genomes in HPV-Positive Head and Neck Squamous Cell Carcinoma." Viruses 13, no. 8 (2021): 1666. http://dx.doi.org/10.3390/v13081666.

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APOBEC is a mutagenic source in human papillomavirus (HPV)-mediated malignancies, including HPV+ oropharyngeal squamous cell carcinoma (HPV + OPSCC), and in HPV genomes. It is unknown why APOBEC mutations predominate in HPV + OPSCC, or if the APOBEC-induced mutations observed in both human cancers and HPV genomes are directly linked. We performed sequencing of host somatic exomes, transcriptomes, and HPV16 genomes from 79 HPV + OPSCC samples, quantifying APOBEC mutational burden and activity in both host and virus. APOBEC was the dominant mutational signature in somatic exomes. In viral genome

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20

Raychaudhury, Paromita, and Ashis K. Basu. "Replication Past the -Radiation-Induced Guanine-Thymine Cross-Link G[8,5-Me]T by Human and Yeast DNA Polymerase." Journal of Nucleic Acids 2010 (2010): 1–10. http://dx.doi.org/10.4061/2010/101495.

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-Radiation-induced intrastrand guanine-thymine cross-link, G[8,5-Me]T, hinders replicationin vitroand is mutagenic in mammalian cells. Herein we reportin vitrotranslesion synthesis of G[8,5-Me]T by human and yeast DNA polymerase (hPol and yPol ). dAMP misincorporation opposite the cross-linked G by yPol was preferred over correct incorporation of dCMP, but further extension was 100-fold less efficient for :A compared to :C. For hPol , both incorporation and extension were more efficient with the correct nucleotides. To evaluate translesion synthesis in the presence of all four dNTPs, we have d

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21

Foster, Patricia L. "Adaptive Mutation: Has the Unicorn Landed?" Genetics 148, no. 4 (1998): 1453–59. http://dx.doi.org/10.1093/genetics/148.4.1453.

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Abstract Reversion of an episomal Lac− allele during lactose selection has been studied as a model for adaptive mutation. Although recent results show that the mutations that arise during selection are not “adaptive” in the original sense, the mutagenic mechanism that produces these mutations may nonetheless be of evolutionary significance. In addition, a transient mutational state induced in a subpopulation of starving cells could provide a species with a mechanism for adaptive evolution.

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22

A, LOURDUSAMY, and RATHNASWAMY R. "INDUCED MUTATIONS IN FIELD LABLAB: FREQUENCY AND SPECTRUM OF CHLOROPHYLL MUTATIONS." Madras Agricultural Journal 82, November (1995): 567–69. http://dx.doi.org/10.29321/maj.10.a01263.

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Mutations were induced in three genotypes (CO 2, DPI 1281 & DL 3196) by gamma rays (10,20 and 30kR). Four different chlorophyll mutations were observed in M2 generation viz., albina, chlorina, viridis and xantha. The rate of chlorophyll mutation increased with increase in dosage of gamma rays both in MI plant basis and M2 seedling basis except in CO 2 where the rate of chlorophyll mutation showed a slight decline at the higher dose of 30 KR on M1 plant basis.

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23

Greene, Elizabeth A., Christine A. Codomo, Nicholas E. Taylor, et al. "Spectrum of Chemically Induced Mutations From a Large-Scale Reverse-Genetic Screen in Arabidopsis." Genetics 164, no. 2 (2003): 731–40. http://dx.doi.org/10.1093/genetics/164.2.731.

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AbstractChemical mutagenesis has been the workhorse of traditional genetics, but it has not been possible to determine underlying rates or distributions of mutations from phenotypic screens. However, reverse-genetic screens can be used to provide an unbiased ascertainment of mutation statistics. Here we report a comprehensive analysis of ∼1900 ethyl methanesulfonate (EMS)-induced mutations in 192 Arabidopsis thaliana target genes from a large-scale TILLING reverse-genetic project, about two orders of magnitude larger than previous such efforts. From this large data set, we are able to draw str

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24

HALL, B. "Selection-induced mutations." Current Opinion in Genetics & Development 2, no. 6 (1992): 943–46. http://dx.doi.org/10.1016/s0959-437x(05)80120-0.

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25

Nordmann, Patrice L., John C. Makris, and William S. Reznikoff. "Inosine induced mutations." Molecular and General Genetics MGG 214, no. 1 (1988): 62–67. http://dx.doi.org/10.1007/bf00340180.

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26

Jeffers, Michael, Christian Kappeler, Iris Kuss, et al. "Broad spectrum of regorafenib activity on mutant KIT and absence of clonal selection in gastrointestinal stromal tumor (GIST): correlative analysis from the GRID trial." Gastric Cancer 25, no. 3 (2022): 598–608. http://dx.doi.org/10.1007/s10120-021-01274-6.

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Abstract Background In the phase 3 GRID trial, regorafenib improved progression-free survival (PFS) independent of KIT mutations in exons 9 and 11. In this retrospective, exploratory analysis of the GRID trial, we investigated whether a more comprehensive KIT mutation analysis could identify mutations that impact treatment outcome with regorafenib and a regorafenib-induced mutation pattern. Methods Archived tumor samples, collected at any time prior to enrollment in GRID, were analyzed by Sanger sequencing (n = 102) and next-generation sequencing (FoundationONE; n = 47). Plasma samples collect

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27

Gutiérrez, Pedro J. A., and Teresa S.-F. Wang. "Genomic Instability Induced by Mutations in Saccharomyces cerevisiae POL1." Genetics 165, no. 1 (2003): 65–81. http://dx.doi.org/10.1093/genetics/165.1.65.

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Abstract Mutations of chromosome replication genes can be one of the early events that promote genomic instability. Among genes that are involved in chromosomal replication, DNA polymerase α is essential for initiation of replication and lagging-strand synthesis. Here we examined the effect of two mutations in S. cerevisiae POL1, pol1-1 and pol1-17, on a microsatellite (GT)16 tract. The pol1-17 mutation elevated the mutation rate 13-fold by altering sequences both inside and downstream of the (GT)16 tract, whereas the pol1-1 mutation increased the mutation rate 54-fold by predominantly alterin

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Tejklová, E. "Curly Stem – an Induced Mutation in Flax (Linum usitatissimum L.)." Czech Journal of Genetics and Plant Breeding 38, No. 3-4 (2012): 125–28. http://dx.doi.org/10.17221/6246-cjgpb.

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After ethyl methane sulfonate (EMS) treatment of two flax lines, curly stem mutations appeared in both, besides of other mutations. Genetic analysis of one CS mutant line confirmed a monogenic inheritance of the changed stem shape. The curly stem allele is partially dominant over the wild type allele for straight stem. Homozygotic mutants have a curly stem, heterozygotic plants have a flexuous stem, while the stem of homozygotic recessive plants is straight. The expression of the curly stem character is affected by factors influencing plant growth. The utilisation of this mutation for ornament

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Nguyen, An Phu Tran, Elpida Tsika, Kaela Kelly, et al. "Dopaminergic neurodegeneration induced by Parkinson's disease-linked G2019S LRRK2 is dependent on kinase and GTPase activity." Proceedings of the National Academy of Sciences 117, no. 29 (2020): 17296–307. http://dx.doi.org/10.1073/pnas.1922184117.

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Mutations inleucine-rich repeat kinase 2(LRRK2) are the most common cause of late-onset, autosomal-dominant familial Parkinson’s disease (PD). LRRK2 functions as both a kinase and GTPase, and PD-linked mutations are known to influence both enzymatic activities. While PD-linked LRRK2 mutations can commonly induce neuronal damage in culture models, the mechanisms underlying these pathogenic effects remain uncertain. Rodent models containing familial LRRK2 mutations often lack robust PD-like neurodegenerative phenotypes. Here, we develop a robust preclinical model of PD in adult rats induced by t

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Aditya, A. Munshi*. "Fever Induced Brugada Syndrome." Annals of Circulation 2, no. 1 (2017): 024–25. https://doi.org/10.17352/ac.000008.

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Brugada syndrome is a heterogeneous genetic channelopathy that predisposes to ventricular arrhythmias and sudden cardiac death (SCD). The electrocardiogram (ECG) findings only suggest a diagnosis of Brugada syndrome but are not confirmatory. The ECG pattern is known to vary with time in some patients and many have a normal baseline ECG [1,2]. There are two distinctly described ECG patterns, type I Brugada is characterized by ST elevation (≥2mm) with a “coved” pattern or a T-wave which is inverted with an upward convexity, in other cases the elevated ST segment descends and rises

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Sood, Sonia, Sanjay Jambhulkar, Yudhvir Singh, Nivedita Gupta, and Saloni Sharma. "Induced chlorophyll mutations in bell pepper (Capsicum annuum L. var. grossum)." Journal of Applied and Natural Science 9, no. 2 (2017): 1085–89. http://dx.doi.org/10.31018/jans.v9i2.1326.

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An investigation entitled “Induced chlorophyll mutations in bell pepper (Capsicum annuum L. var. grossum)” was conducted during kharif (summer-rainy season) 2012 and 2013 at Experimental farm of the Department of Vegetable Science and Floriculture, CSK Himachal Pradesh Krishi Vishvavidyalaya, Palampur, H.P., India. Healthy seeds of California Wonder of bell pepper were exposed to physical mutagen Gamma rays using 60CO as a source of radiation at Mutation Breeding Centre, Department of Biotechnology, BARC Trombay, Mumbai and chemical mutagen EMS (Ethyl Methane Sulphonate) to obtain the spectrum

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Kesarwani, Meenu, Zachary Kincaid, and Mohammad Azam. "DUSP1 Confers Oncogene Dependence in CSF3R Induced Leukemia." Blood 132, Supplement 1 (2018): 1341. http://dx.doi.org/10.1182/blood-2018-99-119092.

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Abstract In 2013, Maxson and colleagues reported mutations in colony stimulating factor-3 (CSF3R) from chronic neutrophilic leukemia (CNL), and atypical CML (aCML) patients. These mutations are clustered into two different regions of the receptor protein; membrane proximal region (proximal mutation) and frameshift or non-sense mutations in the cytoplasmic tail (truncation mutation). Further analysis revealed a significant majority of patients harbor both membrane-proximal and truncation mutations on the same allele (compound mutations). In vivo analysis of these mutants using mouse models reve

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Pletcher, Scott D., David Houle, and James W. Curtsinger. "Age-Specific Properties of Spontaneous Mutations Affecting Mortality in Drosophila melanogaster." Genetics 148, no. 1 (1998): 287–303. http://dx.doi.org/10.1093/genetics/148.1.287.

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Abstract An analysis of the effects of spontaneous mutations affecting age-specific mortality was conducted using 29 lines of Drosophila melanogaster that had accumulated spontaneous mutations for 19 generations. Divergence among the lines was used to estimate the mutational variance for weekly mortality rates and the covariance between weekly mortality rates at different ages. Significant mutational variance was observed in both males and females early in life (up to ~30 days of age). Mutational variance was not significantly different from zero for mortality rates at older ages. Mutational c

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Walter, David M., Katherine Cho, Smruthy Sivakumar, et al. "Abstract 3748: U2AF1 mutations rescue deleterious exon skipping induced by KRAS mutations." Cancer Research 85, no. 8_Supplement_1 (2025): 3748. https://doi.org/10.1158/1538-7445.am2025-3748.

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Abstract U2AF1S34F is one of the most common somatic amino acid substitutions in lung adenocarcinoma; however, the selective pressure behind this splicing factor mutation is poorly understood. To assess the function of U2AF1S34F that results in its selection in lung cancer, we used prime editing to modify the endogenous U2AF1 gene in lung adenocarcinoma cells. Analysis of the resulting changes in alternative splicing identified KRAS as a key target modulated by U2AF1S34F in KRASG12S-mutant A549 cells, but not KRASG12V-mutant NCI-H441 cells. A broad analysis of cancer cell lines identified freq

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Ahn, Eun Hyun, and Seung Hyuk Lee. "Detection of Low-Frequency Mutations and Identification of Heat-Induced Artifactual Mutations Using Duplex Sequencing." International Journal of Molecular Sciences 20, no. 1 (2019): 199. http://dx.doi.org/10.3390/ijms20010199.

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We present a genome-wide comparative and comprehensive analysis of three different sequencing methods (conventional next generation sequencing (NGS), tag-based single strand sequencing (e.g., SSCS), and Duplex Sequencing for investigating mitochondrial mutations in human breast epithelial cells. Duplex Sequencing produces a single strand consensus sequence (SSCS) and a duplex consensus sequence (DCS) analysis, respectively. Our study validates that although high-frequency mutations are detectable by all the three sequencing methods with the similar accuracy and reproducibility, rare (low-frequ

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Antić, Željko, Stefan H. Lelieveld, Cédric G. van der Ham, Edwin Sonneveld, Peter M. Hoogerbrugge, and Roland P. Kuiper. "Unravelling the Sequential Interplay of Mutational Mechanisms during Clonal Evolution in Relapsed Pediatric Acute Lymphoblastic Leukemia." Genes 12, no. 2 (2021): 214. http://dx.doi.org/10.3390/genes12020214.

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Pediatric acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy and is characterized by clonal heterogeneity. Genomic mutations can increase proliferative potential of leukemic cells and cause treatment resistance. However, mechanisms driving mutagenesis and clonal diversification in ALL are not fully understood. In this proof of principle study, we performed whole genome sequencing of two cases with multiple relapses in order to investigate whether groups of mutations separated in time show distinct mutational signatures. Based on mutation allele frequencies at diagnosis

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Streisinger, George, and Joyce Emrich Owen. "MECHANISMS OF SPONTANEOUS AND INDUCED FRAMESHIFT MUTATION IN BACTERIOPHAGE T4." Genetics 109, no. 4 (1985): 633–59. http://dx.doi.org/10.1093/genetics/109.4.633.

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ABSTRACT Frequencies of spontaneous and proflavine-induced frameshift mutations increase dramatically as a function of the number of reiterated base pairs at each of two sites in the lysozyme gene of bacteriophage T4. At each site, proflavine induces addition mutations more frequently than deletion mutations. We confirm that the steroidal diamine, irehdiamine A, induces frameshift addition mutations. At sites of reiterated bases, we propose that base pairing is misaligned adjacent to a gap. The misaligned configuration is stabilized by the stacking of mutagen molecules around the extrahelical

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Shinmura, Kazuya, Hisami Kato, Masanori Goto, et al. "Mutation Spectrum Induced by 8-Bromoguanine, a Base Damaged by Reactive Brominating Species, in Human Cells." Oxidative Medicine and Cellular Longevity 2017 (2017): 1–11. http://dx.doi.org/10.1155/2017/7308501.

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To date, the types of mutations caused by 8-bromoguanine (8BrG), a major base lesion induced by reactive brominating species during inflammation, in human cells and the 8BrG repair system remain largely unknown. In this study, we performed a supF forward mutation assay using a shuttle vector plasmid containing a single 8BrG in three kinds of human cell lines and revealed that 8BrG in DNA predominantly induces a G → T mutation but can also induce G → C, G → A, and delG mutations in human cells. Next, we tested whether eight kinds of DNA glycosylases (MUTYH, MPG, NEIL1, OGG1, SMUG1, TDG, UNG2, a

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Austen, Belinda, Christopher Fegan, Paul Moss, and Tanja Stankovic. "ATM Mutations Define a Subset of B-CLL Tumours That Only Partially Correlates with 11q Status and Is Associated with Impaired Patient Survival." Blood 104, no. 11 (2004): 774. http://dx.doi.org/10.1182/blood.v104.11.774.774.

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Abstract The clinical progression of B cell chronic lymphocytic leukaemia (B-CLL) is heterogeneous and prognostic markers are important both for patient management and understanding of disease biology. Deletions of chromosome 11q are associated with a severe clinical phenotype and reduced survival in CLL but the genetic basis of this association has not been defined. The ATM gene is located within the minimally deleted region on 11q and ATM mutations have been reported in CLL suggesting that it may be acting as a tumour suppressor gene. The prevalence and clinical effects of ATM mutations in a

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Mathiesen, Sofie, Elisabeth Dam, Birgit Roge, et al. "Long-Term Foscarnet Therapy Remodels Thymidine Analogue Mutations and Alters Resistance to Zidovudine and Lamivudine in HIV-1." Antiviral Therapy 12, no. 3 (2006): 335–44. http://dx.doi.org/10.1177/135965350701200310.

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Objective To study the evolution of multi-drug-resistant HIV-1 in treatment-experienced patients receiving foscarnet (PFA) as part of salvage therapy and to investigate the virological consequences of emerging mutations. Methods Genotypic and phenotypic resistance tests were performed on plasma viruses from seven patients at baseline and during treatment with PFA. The phenotypic effects of mutations suspected to be associated with PFA resistance were evaluated by site-directed mutagenesis of wild-type or thymidine analogue mutations (TAM)-carrying pNL4–3. Reversion of single mutations was perf

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Chang, D. Y., B. Wisely, S. M. Huang, and R. A. Voelker. "Molecular cloning of suppressor of sable, a Drosophila melanogaster transposon-mediated suppressor." Molecular and Cellular Biology 6, no. 5 (1986): 1520–28. http://dx.doi.org/10.1128/mcb.6.5.1520-1528.1986.

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A hybrid dysgenesis-induced allele [su(s)w20] associated with a P-element insertion was used to clone sequences from the su(s) region of Drosophila melanogaster by means of the transposon-tagging technique. Cloned sequences were used to probe restriction enzyme-digested DNAs from 22 other su(s) mutations. None of three X-ray-induced or six ethyl methanesulfonate-induced su(s) mutations possessed detectable variation. Seven spontaneous, four hybrid dysgenesis-induced, and two DNA transformation-induced mutations were associated with insertions within 2.0 kilobases (kb) of the su(s)w20 P-element

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Chang, D. Y., B. Wisely, S. M. Huang, and R. A. Voelker. "Molecular cloning of suppressor of sable, a Drosophila melanogaster transposon-mediated suppressor." Molecular and Cellular Biology 6, no. 5 (1986): 1520–28. http://dx.doi.org/10.1128/mcb.6.5.1520.

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A hybrid dysgenesis-induced allele [su(s)w20] associated with a P-element insertion was used to clone sequences from the su(s) region of Drosophila melanogaster by means of the transposon-tagging technique. Cloned sequences were used to probe restriction enzyme-digested DNAs from 22 other su(s) mutations. None of three X-ray-induced or six ethyl methanesulfonate-induced su(s) mutations possessed detectable variation. Seven spontaneous, four hybrid dysgenesis-induced, and two DNA transformation-induced mutations were associated with insertions within 2.0 kilobases (kb) of the su(s)w20 P-element

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Colizzi, Enrico Sandro, and Paulien Hogeweg. "Transcriptional Mutagenesis Prevents Ribosomal DNA Deterioration: The Role of Duplications and Deletions." Genome Biology and Evolution 11, no. 11 (2019): 3207–17. http://dx.doi.org/10.1093/gbe/evz235.

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Abstract Clashes between transcription and replication complexes can cause point mutations and chromosome rearrangements on heavily transcribed genes. In eukaryotic ribosomal RNA genes, the system that prevents transcription–replication conflicts also causes frequent copy number variation. Such fast mutational dynamics do not alter growth rates in yeast and are thus selectively near neutral. It was recently found that yeast regulates these mutations by means of a signaling cascade that depends on the availability of nutrients. Here, we investigate the long-term evolutionary effect of the mutat

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Singer, M. J., B. A. Marcotte, and E. U. Selker. "DNA methylation associated with repeat-induced point mutation in Neurospora crassa." Molecular and Cellular Biology 15, no. 10 (1995): 5586–97. http://dx.doi.org/10.1128/mcb.15.10.5586.

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Repeat-induced point mutation (RIP) is a process that efficiently detects DNA duplications prior to meiosis in Neurospora crassa and peppers them with G:C to A:T mutations. Cytosine methylation is typically associated with sequences affected by RIP, and methylated cytosines are not limited to CpG dinucleotides. We generated and characterized a collection of methylated and unmethylated amRIP alleles to investigate the connection(s) between DNA methylation and mutations by RIP. Alleles of am harboring 84 to 158 mutations in the 2.6-kb region that was duplicated were heavily methylated and trigge

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Grunwald, David Jonah, and George Streisinger. "Induction of recessive lethal and specific locus mutations in the zebrafish with ethyl nitrosourea." Genetical Research 59, no. 2 (1992): 103–16. http://dx.doi.org/10.1017/s0016672300030317.

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SummaryRecessive lethal mutations and mutations at the gol-1 locus were induced in the zebrafish by exposure of mature sperm to the alkylating agent ethyl nitrosourea (ENU). Embryonic lethal phenotypes were recognized among the parthenogenetic progeny of mutagenized animals or among the progeny of daughters of mutagenized animals. Novel specific locus mutations were identified by the failure of mutagenized chromosomes to complement pre-existing mutant alleles at the gol-1 locus. Each mutagenized individual harboured approximately 10 embryonic lethal mutations in its germ line and about 1 in 50

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Weil, Clifford F., and Rita-Ann Monde. "Induced mutations in maize." Israel Journal of Plant Sciences 55, no. 2 (2007): 183–90. http://dx.doi.org/10.1560/ijps.55.2.183.

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Sepulveda-Yanez, Julieta H., Diego Alvarez-Saravia, Jose Fernandez-Goycoolea, et al. "Integration of Mutational Signature Analysis with 3D Chromatin Data Unveils Differential AID-Related Mutagenesis in Indolent Lymphomas." International Journal of Molecular Sciences 22, no. 23 (2021): 13015. http://dx.doi.org/10.3390/ijms222313015.

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Activation-induced deaminase (AID) is required for somatic hypermutation in immunoglobulin genes, but also induces off-target mutations. Follicular lymphoma (FL) and chronic lymphocytic leukemia (CLL), the most frequent types of indolent B-cell tumors, are exposed to AID activity during lymphomagenesis. We designed a workflow integrating de novo mutational signatures extraction and fitting of COSMIC (Catalogue Of Somatic Mutations In Cancer) signatures, with tridimensional chromatin conformation data (Hi-C). We applied the workflow to exome sequencing data from lymphoma samples. In 33 FL and 3

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Hermsen, Mario A., María A. Sevilla, José Luis Llorente, et al. "Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management." Analytical Cellular Pathology 32, no. 4 (2010): 275–83. http://dx.doi.org/10.1155/2010/312760.

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Background: Head and neck paraganglioma (PGL) are benign tumors that can cause important direct or surgery induced morbidity. Almost all familial and 11–29% of sporadic PGL are caused by inactivating germline mutations in succinate dehydrogenase (SDH) genes. Our aim was to screen for such mutations and to evaluate clinical parameters as predictors of germline mutation.Methods: Seventy-four PGL patients were analyzed for germline mutations and large deletions in SDH genes, VHL and RET. Results were correlated to clinical characteristics including gender, age, tumor localization and multifocalit

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Kenzhebayeva, S. S., D. Zharassova, F. Sarsu, and S. C. Minocha. "INDUCED MUTATIONS IN WHEAT IMPROVEMENTS ON NUTRITIONAL QUALITY OF THE GRAIN." Eurasian Journal of Ecology 2, no. 51 (2017): 4–13. http://dx.doi.org/10.26577/eje-2017-2-762.

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Li, Junhui, Rati Lama, Samuel L. Galster, et al. "Small-Molecule MMRi62 Induces Ferroptosis and Inhibits Metastasis in Pancreatic Cancer via Degradation of Ferritin Heavy Chain and Mutant p53." Molecular Cancer Therapeutics 21, no. 4 (2022): 535–45. http://dx.doi.org/10.1158/1535-7163.mct-21-0728.

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Abstract High frequency of KRAS and TP53 mutations is a unique genetic feature of pancreatic ductal adenocarcinoma (PDAC). TP53 mutation not only renders PDAC resistance to chemotherapies but also drives PDAC invasiveness. Therapies targeting activating mutant KRAS are not available and the outcomes of current PDAC treatment are extremely poor. Here, we report that MMRi62, initially identified as an MDM2-MDM4–targeting small molecule with p53-independent pro-apoptotic activity, shows anti-PDAC activity in vitro and in vivo. We show that MMRi62 inhibits proliferation, clonogenic, and spheroid g

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