This pattern is a hallmark of octapeptide insert mutations and unlikely to be related to the filamentous deposits.
More recently, lines of mounting evidence have also shown that A3 enzymes insert mutations in human nuclear and mitochondrial DNA, suggesting roles in DNA catabolism [ 47].
Site-directed mutagenesis was employed to insert mutations into the upstream, the downstream, or both Sp1 sites in the construct S -207/+259.
Seedlings with T-DNA insert mutations in various exocyst components that resulted in reductions, sometimes profound, in the primary root growth rate were evaluated.
This gene presents several point or insert mutations that are responsible for the appearance of familial forms of prion diseases, and often each specific mutation is associated with a specific clinicopathological phenotype [ 19].
Approximately 10 to 20% of CJD cases appear within families [ 4, 5] and these forms are always (apart from very few exceptions, for example [ 6, 7]) linked to point or insert mutations in the prion protein gene, PRNP, suggesting that these disorders are strongly linked to PRNP and that, unlike other neurodegenerative disorders such as AD, prion diseases are likely monogenetic.
Thus, the phenotypes are considered to correctly reflect the effects of the inserted mutation.
Prediction of the secondary structure of CCTα apical domain in wildtype and in the G346E mutant cells was done using the program ProModII [31], since the inserted mutation was in this protein domain.
Figure 2D shows that the inserted mutation at −774 bp of the β-syn promoter, corresponding to the putative MTF-1 binding site, abolishes promoter activity to near basal levels, regardless of MTF-1 over-expression, as can be seen when compared to pGL3basic.
