Frameshift mutation

A frameshift mutation (also called a framing error or a reading frame shift) is a <a href="/facts/Genetic_mutation/Ee4NnWbY">genetic mutation</a> caused by <a href="/facts/Indel/4GbSXrGm">indels</a> (<a href="/facts/Gene_insertion/LC827MUs">insertions</a> or <a href="/facts/Genetic_deletion/6TRPY0ys">deletions</a>) of a number of <a href="/facts/Nucleotide/pQKEwlJI">nucleotides</a> in a DNA sequence that is not divisible by three. Due to the triplet nature of <a href="/facts/Gene_expression/alCPohLR">gene expression</a> by <a href="/facts/Codon/zUK0bY1B">codons</a>, the insertion or deletion can change the <a href="/facts/Reading_frame/6Ugt2vUe">reading frame</a> (the grouping of the codons), resulting in a completely different <a href="/facts/Translation_(genetics)/JcPC1rth">translation</a> from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein. A frameshift mutation is not the same as a <a href="/facts/Single-nucleotide_polymorphism/Qy5Y2wom">single-nucleotide polymorphism</a> in which a nucleotide is replaced, rather than inserted or deleted. A <a href="/facts/Frameshift/NCXL6kAD">frameshift</a> mutation will in general cause the reading of the codons after the mutation to code for different amino acids. The frameshift mutation will also alter the first stop codon ("UAA", "UGA" or "UAG") encountered in the sequence. The polypeptide being created could be abnormally short or abnormally long, and will most likely not be functional.
Frameshift mutations are apparent in severe genetic diseases such as <a href="/facts/Tay%25E2%2580%2593Sachs_disease/GzPBkCeR">Tay–Sachs disease</a>; they increase susceptibility to certain cancers and classes of <a href="/facts/Familial_hypercholesterolaemia/HSB8U9XQ">familial hypercholesterolaemia</a>; in 1997, a frameshift mutation was linked to resistance to infection by the HIV retrovirus. Frameshift mutations have been proposed as a source of biological novelty, as with the alleged creation of <a href="/facts/Nylonase/RjtpPMaP">nylonase</a>, however, this interpretation is controversial. A study by Negoro et al. (2006) found that a frameshift mutation was unlikely to have been the cause and that rather a two amino acid substitution in the <a href="/facts/Active_site/u9ua7rGu">active site</a> of an ancestral <a href="/facts/Esterase/Ff2bb7LD">esterase</a> resulted in nylonase.

Frameshift mutation open-in-new

Frameshift mutation