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Most of the mutations resulted from dramatic population booms, they suggest.
As noted above, and summarized in Fig. 1A, the majority of spontaneous mutations resulted from TA→CG transitions, irrespective of dinB and/or mutS function: 9/12 (75%) RifR mutations in the wild-type strain resulted from TA→CG transitions, compared to 16/19 (85%) for the dinB strain, 18/18 (100%) for the mutS strain, and 19/20 (95%) for the dinB mutS double mutant.
All other mutations resulted from targeted mutagenesis.
In fly, it was estimated that 80% of spontaneous mutations resulted from transposable elements [ 92].
This observation provides strong evidence that the sequenced mutations resulted from library construction and not from downstream PCR processing.
These mutations resulted from missense mutations in conserved residues located outside of the ATPase domain and were clustered near the active site.
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Thus, despite generating a mutator effect itself, pol2-Y831A actually suppresses mutations resulting from loss of proofreading by Pol ε.
Mutations resulting from translocations are assumed to be formed by misrejoining of two DNA double strand breaks (DSB), one within the gene and one on a different chromosome.
Applying the model to mutations of the hprt gene induced in G0 human lymphocyte cells by low-LET radiation, it is calculated that mutations resulting from translocations account for about 14% of the total mutations.
In addition to the nuclear germline and somatic mutations resulting from alteration in one or a small number of nucleotides, there are additional sources of genomic variation.
It is so far considered that the defects caused by these mutations result from altered function of cohesin in regulating gene expression during development.
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