Different types of indel mutation. Panel C is simply a deletion and not a frameshift mutation.
A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein.[1] A frameshift mutation is not the same as a single-nucleotide polymorphism in which a nucleotide is replaced, rather than inserted or deleted. A frameshift 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.[2]
Frameshift mutations are apparent in severe genetic diseases such as Tay–Sachs disease; they increase susceptibility to certain cancers and classes of familial hypercholesterolaemia; in 1997,[3] 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 nylonase, however, this interpretation is controversial. A study by Negoro et al. (2006)[4] found that a frameshift mutation was unlikely to have been the cause and that rather a two amino acid substitution in the active site of an ancestral esterase resulted in nylonase.
^Losick, Richard; Watson, James D.; Baker, Tania A.; Bell, Stephen; Gann, Alexander; Levine, Michael W. (2008). Molecular biology of the gene (6th ed.). San Francisco: Pearson/Benjamin Cummings. ISBN 978-0-8053-9592-1.
^"DNA Is Constantly Changing through the Process of Mutation". Nature. Retrieved 17 May 2019.
^Zimmerman PA, Buckler-White A, Alkhatib G, Spalding T, Kubofcik J, Combadiere C, Weissman D, Cohen O, Rubbert A, Lam G, Vaccarezza M, Kennedy PE, Kumaraswami V, Giorgi JV, Detels R, Hunter J, Chopek M, Berger EA, Fauci AS, Nutman TB, Murphy PM (January 1997). "Inherited resistance to HIV-1 conferred by an inactivating mutation in CC chemokine receptor 5: studies in populations with contrasting clinical phenotypes, defined racial background, and quantified risk". Molecular Medicine. 3 (1): 23–36. PMC 2230106. PMID 9132277.
^Negoro S, Ohki T, Shibata N, Mizuno N, Wakitani Y, Tsurukame J, Matsumoto K, Kawamoto I, Takeo M, Higuchi Y (November 2005). "X-ray crystallographic analysis of 6-aminohexanoate-dimer hydrolase: molecular basis for the birth of a nylon oligomer-degrading enzyme". J Biol Chem. 280 (47): 39644–52. doi:10.1074/jbc.m505946200. PMID 16162506.
and 26 Related for: Frameshift mutation information
A frameshiftmutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number...
specifics of the mutation. These consequences can range from no effect (e.g. synonymous mutations) to deleterious effects (e.g. frameshiftmutations), with regard...
stem stronger and perfects the inverted repeat, it also creates a frameshiftmutation in the nucleotide sequence which alters the reading frame and will...
Ribosomal frameshifting, also known as translational frameshifting or translational recoding, is a biological phenomenon that occurs during translation...
may alter splicing of the mRNA (splice site mutation), or cause a shift in the reading frame (frameshift), both of which can significantly alter the gene...
produce a stop codon, which is much less likely to happen. A recessive frameshiftmutation resulting in a reduction of leptin has been observed in two consanguineous...
multiple of 3, it will produce a frameshiftmutation. For example, a common microindel which results in a frameshift causes Bloom syndrome in the Jewish...
causing insertions or deletions of base pairs, which cause frameshiftmutations. These mutations can render the gene in which they occur nonfunctional, thus...
as possible causes. Progressive retinal atrophy (PRA) caused by a frameshiftmutation in the RPRG locus of the X chromosome. The disease leads to a slowly...
"Two novel frameshiftmutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome". Human Mutation. 7 (4): 361–3...
single base insertion or deletion would shift the reading frame (frameshiftmutation) in such a way that the remaining DNA would code for a different...
FC40 has a high rate of mutation, and so is useful for studies, such as for adaptive mutation. Due to a frameshiftmutation, a change in the sequence...
follows:: 39–50 : 109 Deleterious mutation: The change is proven to cause significant risks. Often, these are frameshiftmutations that prevent the cell from...
HIV proviruses, in which GFP replaces nef coding sequence, and a frameshiftmutation in env. Jurkat J6 cells have been found to produce a xenotropic murine...
2004 by a group of researchers led by Dr. Hansell Stedman, that a frameshiftmutation shrank the individual muscle fibers of the temporalis muscle, which...
patients include germ-line N-terminal mutation, N-terminal frameshiftmutation, and C-terminal mutation. These mutations are most frequently found in acute...
deletion of one or more nucleotide bases. Such changes can lead to a frameshiftmutation, causing the entire code to be read in a different order from the...
neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshiftmutation at the 3' terminus of the FBN1-gene". American Journal of Medical...
is similar to OI. Type XII – OI caused by a frameshiftmutation in SP7 on chromosome 12q13.13. This mutation causes bone deformities, fractures, and delayed...
APFSDS or HEAT-FS Flank speed, a ship's true maximum speed Frameshiftmutation, a genetic mutation Fujita scale (F-Scale), or Fujita-Pearson scale, a scale...
translated in a different reading frame. This is distinct from a frameshiftmutation, as the nucleotide sequence (DNA or RNA) is not altered—only the...
called missense mutations. Other types of mutations include frameshiftmutations such as insertions or deletions. Some forms of mutations are hereditary...
et al. (April 1999). "Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshiftmutation associated with dominantly inherited...
place themselves between stacked nitrogenous bases in DNA, causing a frameshiftmutation. Some intercalating agents, like daunorubicin, are capable of blocking...
nucleotides into a set of consecutive, non-overlapping triplets Frameshiftmutation, when a single base-pair is added to a DNA string, causing incorrect...
gene regulates bone development and tissue mineralization, and the frameshiftmutation seems to have resulted in the open skull and cartilage-based bone...
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