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Frameshift mutations are known to be a factor in colorectal cancer as well as other cancers with microsatellite instability. As stated previously, frameshift mutations are more likely to occur in a region of repeat sequence. When DNA mismatch repair does not fix the addition or deletion of bases, these mutations are more likely to be pathogenic.
Frame-shift mutations are also possible in start-gain mutations, but typically do not affect translation of the original protein. Start-loss is a point mutation in a transcript's AUG start codon, resulting in the reduction or elimination of protein production. Missense mutations code for a different amino acid.
This is a graphical representation of the HIV1 frameshift signal. A −1 frameshift in the slippery sequence region results in translation of the pol instead of the gag protein-coding region, or open reading frame (ORF). Both gag and pol proteins are required for reverse transcriptase, which is essential to HIV1 replication. [7]
Frameshift mutations often result in the production of aberrant proteins that can be recognized as neoantigens by the immune system, particularly in cancer cells. [12] However, frameshift mutations often lead to the translation of an out-of-frame PTC that can activate NMD to degrade these mutant mRNAs before they are translated into proteins ...
Silent mutations affect protein folding and function. [1] Normally a misfolded protein can be refolded with the help of molecular chaperones. RNA typically produces two common misfolded proteins by tending to fold together and become stuck in different conformations and it has a difficulty singling in on the favored specific tertiary structure ...
The frameshift occurs due to wobble pairing. The Gibbs free energy of secondary structures downstream give a hint at how often frameshift happens. [7] Tension on the mRNA molecule also plays a role. [8] A list of slippery sequences found in animal viruses is available from Huang et al. [9]
Each cell, in order to function correctly, depends on thousands of proteins to function in the right places at the right times. When a mutation alters a protein that plays a critical role in the body, a medical condition can result.
Frameshift mutations will alter all the amino acids encoded by the gene following the mutation. Usually, insertions and the subsequent frameshift mutation will cause the active translation of the gene to encounter a premature stop codon , resulting in an end to translation and the production of a truncated protein.