TDP-43 containing inclusions are found in both forms of the disease, and mutations in TDP-43 are associated with some familial forms of ALS.
That is, some forms of mutation may be more likely to appear in the population than others, resulting in changes that occur consistently in only one direction i.e., a driven trend.
Thus application of our approach can, if desired, be limited to single base substitutions or be widened to include double nucleotide substitutions, indels, geographically localized forms of mutation such as kataegis and mutation features such as transcriptional strand bias.
For example, p53 can be activated by DNA damage to activate cell-cycle checkpoints or apoptosis, such that cells lacking p53 are prone to certain forms of mutation and genomic instability.
The forms of mutation were not significantly different between individuals with two Pro-W-G alleles and those with either one or no Pro-W-G alleles (data not shown).
One may hypothesize that CCLs with both forms of genetic instability acquire larger deletion mutations targeting tumor suppressor genes more rapidly due to initially reduced constraints of the genome architecture.
In malignant tumors, heterogenous forms of mutations can be found [ 9].
The results indicated that patients bearing different forms of mutations may contribute to the pathogenesis.
Moreover, model-fitting methods do not allow one to distinguish between those molecular processes acting on short STRs because these methods work on the net product of various forms of mutations (i.e., point mutation, slippage, and indel slippage).
We speculate that higher temperature might make the thermophile DNA more susceptible to illegitimate recombination, DNA polymerase slippage, or other forms of mutations facilitated by short repeats, and that reducing the amount of repeats, both direct and inverted, could be a strategy to counteract increased recombination rates.
