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Analysis of the p53 exon 5 mutation spectrum in mutation databases for lung cancer reveals frequent GC > AT transitions, several of which occur at non-CpG sequences.
The objective of this study was to update and reveal the prevalence of thalassemia and mutation spectrum in the Baise region of southern China.
To study the clinical variability and KCNV2 mutation spectrum in cone dystrophy with supernormal rod response (CDSRR) in the Israeli population.
This is in line with Kastritis et al. [12], who also noted an underrepresentation of truncating mutations compared to the mutation spectrum in colorectal cancer.
In general, the strand-biased mutation spectrum in animal mitogenomes results in an AC-rich L strand and a GT-rich H strand.
The strand-biased mutation spectrum in vertebrate mitochondrial genomes results in an AC-rich L-strand and a GT-rich H-strand.
Another way to examine the mutation spectrum in mitochondrial DNA is to directly estimate the rates of different substitution types without discerning the processes of replication and transcription.
As Kastritis et al. [12], we found a strong bias towards missense mutations, in contrast to truncating mutations, in APC and we could show that the mutation spectrum in UC differs significantly from the spectrum seen in colorectal cancer.
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It should be noted that MMR failure also promotes mutations in non-repetitive regions of DNA (in addition to microsatellite sequences), as shown by studies on mutation spectra in human cells [49] [52].
Analysis of mutation spectra in yeast also showed that MMR mutants (msh2, msh6, mlh1 and pms1) had increased frameshift mutation rates in non-repetitive regions compared to wild-type [53].
Furthermore, analysis of the 94 substitutions on mutation bias revealed very similar mutation spectrum to the spontaneous mutation spectra in N2 (C.
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