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In contrast to a DNA damage, a mutation is an alteration of the base sequence of the DNA. Ordinarily, a mutation cannot be recognized by enzymes once the base change is present in both DNA strands, and thus a mutation is not ordinarily repaired. At the cellular level, mutations can alter protein function and regulation.
A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome. [1] Point mutations have a variety of effects on the downstream protein product—consequences that are moderately predictable based upon the specifics of the mutation.
In genetics, an insertion (also called an insertion mutation) is the addition of one or more nucleotide base pairs into a DNA sequence. This can often happen in microsatellite regions due to the DNA polymerase slipping. Insertions can be anywhere in size from one base pair incorrectly inserted into a DNA sequence to a section of one chromosome ...
Beneficial nonsense mutations increase the overall fitness and reproductive success of an organism, opposite of the effects of a deleterious mutation. [2] [8] Because a nonsense mutation introduces a premature stop codon within a sequence of DNA, it is extremely unlikely that this scenario can actually benefit the organism. [1]
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.
Recently reported estimates of the human genome-wide mutation rate. The human germline mutation rate is approximately 0.5×10 −9 per basepair per year. [1]In genetics, the mutation rate is the frequency of new mutations in a single gene, nucleotide sequence, or organism over time. [2]
Missense mutation is a type of nonsynonymous substitution in a DNA sequence. Two other types of nonsynonymous substitution are the nonsense mutations , in which a codon is changed to a premature stop codon that results in truncation of the resulting protein , and the nonstop mutations , in which a stop codon erasement results in a longer ...
These mutations, typically short sequences repeated many times, give rise to numerous known diseases, including the trinucleotide repeat disorders. Robert I. Richards and Grant R. Sutherland called these phenomena, in the framework of dynamical genetics, dynamic mutations. Triplet expansion is caused by slippage during DNA replication. Due to ...