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In agreement with an important role for PCNA-Ub in recruiting and activating TLS polymerases upon replication fork stalling [15] [17], analysis of the mutation spectra of mutated Ig genes in B cells from PCNAK164R knock-in mice revealed a selective 10-fold reduction of A/T mutations [18], [19].
We selected and analysed by sequencing 2-FA resistant clones with Bleomycin mutated APT locus and found out that mutation spectra of lig4 mutant reflects rather the defect of SSB than DSB repair.
Analysis of mutation spectra of the tumor suppressor that is most commonly mutated in human cancers, p53, unexpectedly suggested that somatic evolution of the p53 gene during tumorigenesis is dominated by positive selection for gain of function.
The mutation spectra of both series were quite similar with regard to transition and transversion frequencies.
However, the mutation spectra of genes involved in OGID and cancer differ, suggesting complex genotype-phenotype relationships.
In contrast, the mutation spectra of polymerase η -deficient B cells from human and mice lack a significant fraction of A/T mutations [10] [12].
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The mutation spectrum of genes that are frequently mutated in uveal melanoma is compatible with the frequencies observed in previous reports (Martin et al, 2013; Griewank et al, 2013b).
The mutation spectrum of the two tumour groups showed that the most commonly mutated gene following tamoxifen treatment was TP53, with A>G (27%), C>T (20%) and indel (30%) modifications.
The mutation spectrum of the genomes was comparable in their individual chromosomes; however, each mutated genome has unique alterations, which are useful to identify causal mutations for their phenotypic changes.
We drew mutation spectrum barplot to present mutation spectrum of each sample.
Barragan, I. et al. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com