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Showing 1 to 16 of 16 for “"Transversion"”.
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INFLAMMATION INDUCED CYTOSINE DEAMINATION DAMAGE IN CANCER ETIOLOGY
… to cause a characteristic guanine to thymine transversion mutation due to the oxidation of guanine to 8-oxoguanine that mispairs with adenine during replication. Herein lies the unsolved conundrum- if inflammation causes guanine to thymine transversion mutations, why is the prevalent mutation …
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Persistent Oxidative Damage Accounts for the Origin of Mutations Observed in Uterine Pathology
… hotspot mutation involves a cytosine to guanine transversion. The mechanism for C to G transversions in endometrial tissue has not been previously explained. For the first time, we show that the CpG dinucleotide of codon 130 is methylated, which increases the likelihood of oxidative damage to the …
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Molecular characterization of ovine GM1 gangliosidosis
… Sequence analysis revealed a G to T nucleotide transversion in exon six of ovine GLB1 resulting in a nonsynonymous cysteine to phenylalanine (Cys229Phe) amino acid substitution. A PCR-RFLP assay using AciI restriction enzyme was designed for genotyping lambs. To date, 1664 animals have been …
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Alternative expression forms of the bovine αₛ₁-casein gene
… 4 skipping during RNA processing and that a T→A transversion mutation at position +6 in the intron 4 splice donor site is responsible for this skipping (Mohr et al. 1994). The current investigation initially focused on the genetic aetiology of variant A animals in an New Zealand herd; it was …
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Precision Gene Editing for Muscle Diseases
… allowing for base pair transition and transversion edits, as well as short insertions and deletions. Duchenne muscular dystrophy (DMD), a fatal neuromuscular disease of progressive muscle weakness and wasting, is caused by mutations in the DMD gene on the X chromosome, resulting in a …
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Studies On The Determinants Of HIV Mutagenesis And Strategies For Its Enhancement
… 2) decitabine, a HIV-1 mutagen, creates G-to-C transversion mutations in the absence of mutational hotspots; 3) 5-azacytidine causes HIV-1 mutagenesis after reduction to 5-aza-2’-deoxycytidine (i.e. decitabine); 4) the anti-HIV-1 activity of 5-azacytidine is antagonized by inhibitors of …
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Consequences of Oxidative DNA Damage: Base-Pair Dissociation, Singlet Oxygenation and DNA-Protein Crosslinking
… or repaired, not only leads to G⋅C→T⋅A transversion mutations (through Hoogsteen (HG) base pairing of OG⋅A), but also renders the base pair being more vlunerable to ionizing radiation and singlet oxygen (1O2) damage. Leveraging on our previous accomplishments on the study of gas-phase …
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Mechanism of Mismatch Repair Induced Mutagenesis in Somatic Hypermutation
… base pairs, but are converted to transition and transversion mutations at G:C and A:T base pairs by the paradoxical participation of the base excision repair and mismatch repair pathways. The mismatch repair pathway, which evolved to correct errors produced during DNA replication, is co-opted by …
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Evolution of Nuclear Integrations of the Mitochondrial Genome in Great Apes and their Potential as Molecular Markers
… Non-Homologous-End-Joining Repair. Transition/transversion ratios differed significantly between both mitochondrial and nuclear sequences and between numts from coding and non-coding mitochondrial regions. A previously documented upward bias in the GC content of the primate mitochondrial genome …
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Mitochondriale DNA Mutationen und Untersuchungen zum oxidativen Stress beim idiopathischen Parkinsonsyndrom
… wiederum bei der nächsten Replikation zu einer Transversion von Guanin zu Thymin führt (Richter, 1992; Croteau & Bohr, 1997).
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Genetic engineering of recombinant anti-mycolic acid antibody fragments for use in tuberculosis diagnostics
… From the combined total of all five mutants, transversions made up the majority of substitutions. The majority of transversion mutations occurred at A-T base pairs. Transition substation mutations that made up the minority of total mutations occurred mostly at G-C base pairs.
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Modeling structured biological processes with machine learning
… mutation and enabled the first demonstration of transversion base editing by cytosine base editors, broadening the scope of base editing to potentially correcting new classes of mutations. These models also broaden the scope of C to G base editors with restrictive sequence preferences. Finally, I …
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Genetic characteristics of Plasmodium vivax from Northern Mali
… With regard to variant effects, the Transition/Transversion ratio was 1.1. The density of variants with a high effect was 1.62%. There was no mutation associated with antimalarial drugs resistance on pvcrt-o or pvmdr-1 genes. Pairwise differentiation suggests a high degree of relatedness between …
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Mutationen im Leukaemia-Inhibitory-Factor (LIF)-Gen bei wiederholtem Implantationsversagen nach extrakorporaler Befruchtung
… wies im Exon 3 des LIF-Gens eine heterozygote Transversion (G3453T) auf, welche die Struktur und Funktion des LIF-Proteins jedoch nicht beeinflusst, so dass es sich nicht um eine Mutation, sondern um einen funktionell unbedeutenden Polymorphismus handelt. In einem Fall der Kontrollgruppe fand …
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Immortalisierung embryonaler Fibroblasten aus Wildtyp und Hupki (Human p53 knock-in) Mäusen durch Veränderungen des p19Arf/p53 Kontrollweges und Erst-Charakterisierung des neuen Prolin 72-kodierenden Hupki-Mausstamms
… Mutationen (5 von 7) vom Typ G>C oder C>G Transversion, mit einer Überexpression an p19 Protein, oder den p19/ARF- DNA Verlust (2 von7) auf. Dagegen verhielten sich die HUFs R/R, die in 90% der primären Zellklone zu immortalisierten Linien auswuchsen (109/120), deutlich resistenter …
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The Phylogenetic Reconstruction of the Grass Family (Poaceae) Using matK Gene Sequences
… and the second codon positions, low transition-transversion ratio, and the presence of mutationally-conserved sectors. The use of different sectors of the gene and the cumulative inclusion of informative sites showed that the 3' region was the most useful in resolving phylogeny, and that the …