It is worth mentioning that 24% of all families that fulfill the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer tested positive for a deleterious BRCA1 or BRCA2 mutation which reflects stringent inclusion criteria [ 16, 17].
In all nupts except Cep-5, at least one potential protein-coding gene had the ratio of nonsynonymous (d n)/synonymous (d s) mutations >1, which reflects relaxed functional constraints in nupts.
However, indices which reflect the mutation pressure show little correlation with the primary axes, except GC3s.
Most mutations caused by EMS are transitions, which reflect the chemical properties of this mutagen.
Most Group-B elements are not located in conserved genomic regions because they have great d intra values, which reflect that great number of mutations cumulated in these regions.
Many RNA viruses also have high substitution rates – defined here as the rate at which mutations become established within populations – which reflects the probability of arising mutations becoming fixed within virus populations, and is subject to the effects of processes such as natural selection [ 12, 13], competition with other mutations [ 14], and overall viral population dynamics [ 15, 16].
Patients with biallelic mutations in this gene tend to present with a more severe disease than is seen in those carrying heterozygous GCH1 mutations, which presumably reflects the more profound deficiency of dopamine and norephinephrine.
None of these mutations abrogated dimerization with TFEβ, which reflects that the interaction network differs between yeast TFIIE and TFEα/β.
Meanwhile, the UM expressed region had a range wider than NUM, which reflected that the mutation rate may be higher than normal cells (Table 2).
Virtually all colorectal tumours from MSH2 or MLH1 mutation carriers show microsatellite instability (MSI), which reflects the defect in DNA-mismatch-repair, and absence of expression of the MMR gene product involved.
