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Frameshift mutation
 
 
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A frameshift mutation (also called a framing error) genetic
Genetics

Genetics , a discipline of biology, is the science of heredity and Genetic variation in living organisms. The fact that living things inherit traits from their parents has been used since prehistoric times to improve crop plants and animals through selective breeding....
 mutation
Mutation

In biology, mutations are changes to the nucleotide sequence of the genetic material of an organism. Mutations can be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or ionizing radiation, chemical mutagens, or virus , or can be induced by the organism, itself, by cellular processes such as s...
 caused by indel
Indel

The term ??indel?? has different definitions in different fields. In evolutionary studies, ??indel?? is used to mean an insertion or a deletion and ??indels?? simply refers to the mutation class that includes both insertions, deletions, and the combination thereof , including insertion and deletion events that may be separated by many years....
s, ie. insertion or deletion
Genetic deletion

In genetics, a deletion is a mutation in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material....
 of a number of nucleotide
Nucleotide

Nucleotides are molecules that comprise the structural units of RNA and DNA. Additionally, nucleotides play central roles in metabolism. In that capacity, they serve as sources of chemical energy , participate in cell signaling , and are incorporated into important cofactors of enzymatic reactions ....
s that is not evenly divisible by three from a DNA
DNA

Deoxyribonucleic acid is a nucleic acid that contains the genetics instructions used in the development and functioning of all known living organisms and some viruses....
 sequence. Due to the triplet nature of gene expression
Gene expression

Gene expression is the process by which inheritable information from a gene, such as the DNA sequence, is made into a functional gene product, such as protein or RNA....
 by codons, the insertion or deletion
Genetic deletion

In genetics, a deletion is a mutation in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material....
 can disrupt the reading frame
Reading frame

In biology, a reading frame is a contiguous and non-overlapping set of three-nucleotide codons in DNA or RNA. There are 3 possible reading frames in an mRNA strand and six in a double stranded DNA molecule due to the two strands from which transcription is possible....
, or the grouping of the codons, resulting in a completely different translation
Translation (genetics)

Translation is the first stage of protein biosynthesis . Translation is the production of proteins by decoding mRNA produced in Transcription ....
 from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein produced is.

A frameshift
Frameshift

A directed change in translational reading frames that allows the production of a single protein from two or more overlapping genes. The process is programmed by the nucleotide sequence of the mRNA and is sometimes also affected by the secondary or tertiary mRNA structure....
 mutation causes the reading of codons to be different, so all codons after the mutation (with a few exceptions due to redundancy) will code for different amino acids.






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A frameshift mutation (also called a framing error) genetic
Genetics

Genetics , a discipline of biology, is the science of heredity and Genetic variation in living organisms. The fact that living things inherit traits from their parents has been used since prehistoric times to improve crop plants and animals through selective breeding....
 mutation
Mutation

In biology, mutations are changes to the nucleotide sequence of the genetic material of an organism. Mutations can be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or ionizing radiation, chemical mutagens, or virus , or can be induced by the organism, itself, by cellular processes such as s...
 caused by indel
Indel

The term ??indel?? has different definitions in different fields. In evolutionary studies, ??indel?? is used to mean an insertion or a deletion and ??indels?? simply refers to the mutation class that includes both insertions, deletions, and the combination thereof , including insertion and deletion events that may be separated by many years....
s, ie. insertion or deletion
Genetic deletion

In genetics, a deletion is a mutation in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material....
 of a number of nucleotide
Nucleotide

Nucleotides are molecules that comprise the structural units of RNA and DNA. Additionally, nucleotides play central roles in metabolism. In that capacity, they serve as sources of chemical energy , participate in cell signaling , and are incorporated into important cofactors of enzymatic reactions ....
s that is not evenly divisible by three from a DNA
DNA

Deoxyribonucleic acid is a nucleic acid that contains the genetics instructions used in the development and functioning of all known living organisms and some viruses....
 sequence. Due to the triplet nature of gene expression
Gene expression

Gene expression is the process by which inheritable information from a gene, such as the DNA sequence, is made into a functional gene product, such as protein or RNA....
 by codons, the insertion or deletion
Genetic deletion

In genetics, a deletion is a mutation in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material....
 can disrupt the reading frame
Reading frame

In biology, a reading frame is a contiguous and non-overlapping set of three-nucleotide codons in DNA or RNA. There are 3 possible reading frames in an mRNA strand and six in a double stranded DNA molecule due to the two strands from which transcription is possible....
, or the grouping of the codons, resulting in a completely different translation
Translation (genetics)

Translation is the first stage of protein biosynthesis . Translation is the production of proteins by decoding mRNA produced in Transcription ....
 from the original. The earlier in the sequence the deletion or insertion occurs, the more altered the protein produced is.

A frameshift
Frameshift

A directed change in translational reading frames that allows the production of a single protein from two or more overlapping genes. The process is programmed by the nucleotide sequence of the mRNA and is sometimes also affected by the secondary or tertiary mRNA structure....
 mutation causes the reading of codons to be different, so all codons after the mutation (with a few exceptions due to redundancy) will code for different amino acids. Furthermore, the stop codon ("UAA", "UGA" or "UAG") will not be read, or a stop codon could be created at an earlier or later site. The protein being created could be abnormally short, abnormally long, and/or contain the wrong amino acids. It will most likely not be functional.

Frameshift mutations frequently result in severe genetic diseases such as Tay-Sachs disease
Tay-Sachs disease

Tay-Sachs disease is a genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease. TSD is inherited in an autosomal recessive pattern....
. A frameshift mutation is responsible for the disabling of the CCR5
CCR5

CCR5, short for chemokine receptor 5 is a protein which in humans is encoded by the CCR5 gene which is located on chromosome 3 on the short arm at position 21....
 HIV receptor and some types of familial hypercholesterolemia
Hypercholesterolemia

Hypercholesterolemia is the presence of high levels of cholesterol in the blood . It is not a disease but a metabolism derangement that can be secondary to many diseases and can contribute to many forms of disease, most notably cardiovascular disease....
 (Lewis, 2005, p. 227-228). Frameshift mutations can also be beneficial. For example, a frameshift mutation was responsible for the creation of nylonase.

Frameshifting may also occur during protein translation, producing different proteins from overlapping open reading frames, such as the gag-pol-env retroviral proteins. This is fairly common in viruses and also occurs in bacteria and yeast (Farabaugh, 1996).

A frameshift mutation is not the same as a single-nucleotide polymorphism in which a nucleotide is replaced, rather than inserted or deleted.

See also

Frameshift
Frameshift

A directed change in translational reading frames that allows the production of a single protein from two or more overlapping genes. The process is programmed by the nucleotide sequence of the mRNA and is sometimes also affected by the secondary or tertiary mRNA structure....


External links

  • — "a central repository for both single base nucleotide substitutions and short deletion and insertion polymorphisms"