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Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair.
Polak, P. et al. Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair.
"Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair". Nature biotechnology 32 (1): 71-75.
Our results show that the mutation density in smoker increases with smoking.
Mutation density in the population designated C was ~1/250 kb and ~1/550 kb in the B population.
Using a similar analysis as above, the estimated mutation density in the tetraploid library is at least one mutation per 68 kb screened.
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Each mutant library was characterized by TILLING multiple genes, revealing high mutation densities in both the hexaploid (~1/38 kb) and tetraploid (~1/51 kb) populations for 50% GC targets.
Coupled to the ability to assay a genome without a reference, the method should facilitate genotyping as well as the measurement of mutation densities in many systems.
Both approaches take advantage of the physical map and known gene content in Arabidopsis, focus on specific EMS-induced transitions that lead to amino acid changes in proteins, and benefit from the low mutation densities in Arabidopsis (~1 EMS mutation per 100-200 kb, or ~1-2 cM) [ 17].
Number of SNPs consistent with NaAzide mutagenesis was higher in all 3 treated individuals than in the control, and mutation density peaked in the intermediate treatment according to the homozygous calls.
If the strains are taken separately, the mutation density is in the range of 0.10 0.25 per 1 kb, corresponding to one SNP every 10,517 bp (GA1), 4,306 bp (CBS6318), or 4,024 bp (CBS1954).
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