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A frameshift mutation can drastically change the coding capacity (genetic information) of the message. [1] Small insertions or deletions (those less than 20 base pairs) make up 24% of mutations that manifest in currently recognized genetic disease. [10] Frameshift mutations are found to be more common in repeat regions of DNA.
These mutations are non-autonomous, as their manifestation depends upon presence of certain conditions, as opposed to other mutations which appear autonomously. [95] The permissive conditions may be temperature , [ 96 ] certain chemicals, [ 97 ] light [ 97 ] or mutations in other parts of the genome . [ 95 ]
NMD is a cellular mechanism that degrades mRNAs containing premature termination codons (PTCs), which can arise from mutations. Comprehensive analyses large scale genetics and gene expression datasets have enabled the systemic identification of the complex rules governing NMD efficiency, and quantification of their relative importance and effect size. [10]
This is a diagram showing mutations in an RNA sequence. Figure (1) is a normal RNA sequence, consisting of 4 codons. Figure (2) shows a missense, single point, non silent mutation. Figures (3 and 4) both show frameshift mutations, which is why they are grouped together. Figure 3 shows a deletion of the second base pair in the second codon.
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.
Nonsense mutations are not always harmful; [2] the functional effect of a nonsense mutation depends on many aspects, such as the location of the stop codon within the coding DNA. [2] For example, the effect of a nonsense mutation depends on the proximity of the nonsense mutation to the original stop codon, and the degree to which functional ...
Point mutations have a variety of effects on the downstream protein product—consequences that are moderately predictable based upon the specifics of the mutation. These consequences can range from no effect (e.g. synonymous mutations) to deleterious effects (e.g. frameshift mutations), with regard to protein production, composition, and function.