somatic mutation


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Related to somatic mutation: Somatic hypermutation

mutation

 [mu-ta´shun]
1. a permanent transmissible change in the genetic material.
2. an individual exhibiting such a change.
point mutation a mutation resulting from a change in a single base pair in the DNA molecule.
somatic mutation a genetic mutation occurring in a somatic cell, providing the basis for mosaicism.
suppressor mutation the correction of the effect of a mutation at one locus by a mutation at another locus.

so·mat·ic mu·ta·tion

a mutation occurring in the general body cells (as opposed to the germ cells) and hence not transmitted to progeny.

somatic mutation

Etymology: Gk, soma, body; L, mutare, to change
a sudden change in the chromosomal material in somatic cell nuclei affecting derived cells but not offspring.

Acquired Mutation

Genetics A post-meiotic alteration in a DNA sequence, which can be passed to the mutated cell’s progeny and linked to the development of cancer.
Molecular biology A non-heritable genetic change in a somatic cell; a somatic mutation.

so·mat·ic mu·ta·tion

(sō-mat'ik myū-tā'shŭn)
A change that occurs in the general body cells (as opposed to the germ cells) and hence not transmitted to progeny.

somatic mutation

A mutation affecting SOMATIC cells that can affect only those cells and their offspring, so cannot be passed on to future generations. Such a mutation dies with the death of the individual.

somatic mutation

see MUTATION.

mutation

1. a nucleotide change, including base substitutions, insertions or deletions in DNA, or RNA in the case of some viruses, that gives rise to the mutant phenotype.
2. an animal exhibiting such change. Called also a sport.

back mutation
see reverse mutation (below).
base substitution mutation
may be a transition in which a purine-pyrimidine pair is substituted by the other purine-pyrimidine pair, or transversion in which a purine-pyrimidine pair is replaced by one of the two pyrimidine pairs.
chain termination mutation
one in which the new base sequence introduces a stop codon and thereby prematurely terminates synthesis of the polypeptide; the three mutations are also called amber (UAG), ochre (UAA) and opal (UGA).
deletion mutation
one produced by loss of nucleotides from a DNA sequence.
frame shift mutation
occur as a result of either the insertion of a new base pair or the deletion of a base pair or a block of base pairs from the DNA base sequence; these, unless they occur in 3 or multiples of 3, are most serious in that the message to the right of the frame shift is garbled.
leaky mutation
one in which the amino acid substitution only partially disrupts the function of the protein; in bacteria this is usually manifested by reduced growth rate.
mis-sense mutation
one causing an amino acid substitution in the protein.
nonsense mutation
one in which a stop codon is substituted for a codon that specifies an amino acid.
operator constitutive mutation
one or more base changes in the operator region (originally defined for the lactose operon) which stop the repressor protein from tightly binding to sequence such that it is less effective in preventing RNA polymerase from inhibiting transcription.
point mutation
a single changed base pair in the DNA of an organism which may be a base substitution, base insertion or base deletion.
mutation rate
the frequency of mutations in the population over time.
repressor-constitutive mutation
in regulation of gene expression, a mutation in the repressor protein that decreases the binding affinity of the repressor protein for the operator which leaves the gene permanently turned on.
reverse mutation
one in which the wild-type phenotype is restored; such organisms are called revertants. Called also back mutation, reversion mutation.
second-site mutation
see suppressor mutation.
silent mutation
one in which there is a base change but because of the redundancy of the genetic code the same amino acid is coded, or one in which there is an amino acid substitution in the protein which has no detectable effect on the phenotype.
somatic mutation
a change in the DNA sequence that occurs in somatic cells, i.e. not gametes. The mechanism underlying the generation of diversity of antigen recognition by immunoglobulins and T cell receptor molecules. The fundamental cause of cancer, in which the mutation occurs spontaneously or is induced by carcinogens, such as sunlight, chemicals or viruses.
suppressor mutation
a particular type of reversion mutation in which a mutation at a second site restores the original phenotype; most simply a mutation produced by a base deletion may be restored to wild type by a proximate but independent base substitution. Called also second-site mutation.
temperature-sensitive (ts) mutation
one in which there is an altered protein that is active at one temperature, typically 86°F (30°C) and inactive at a higher temperature, usually 104 to 108°F (40 to 42°C), e.g. ts mutant virus and bacteria.
transdominant mutation
occur in genes producing diffusible products, in contrast to cis-dominant mutation in which mutations occur in regulatory sequences that are recognized by other proteins.
transition mutation
one in which the base change does not change the pyrimidine-purine orientation. See also base substitution mutation (above).
transposition mutation
one produced by the insertion of a transposable genetic element.
transversion mutation
one in which the purine-pyrimidine orientation is changed to pyrimidine-purine or vice versa. See also base substitution mutation (above).

somatic

1. pertaining to or characteristic of the body or soma.
2. pertaining to the body wall, not the viscera.

somatic afferent system
the system of sensory neurons scattered around the body and responding to pain, touch, temperature and other external stimuli.
somatic cell
see somatic cell.
somatic cell count (SCC)
measurement of somatic cells in milk. An indication of mastitis. See also linear score.
somatic cell hybridization
fusion in the laboratory of two different populations of somatic cells.
somatic mutation
see somatic mutation.
somatic myoneural junction
somatic nerves
nerves supplying the body wall and limbs.
somatic pain
pain emanating from muscles, skeleton, skin; pain in the parts of the body other than the viscera.
somatic sensation
central perceptions of sensory stimuli from the body wall and limbs include touch, temperature, tickle, itch, pain, conscious proprioception.
somatic theory
this postulates that very few immunoglobulins are inherited but there is great diversification in differentiating somatic cells.
References in periodicals archive ?
To our knowledge this is the first targeted NGS study of cfDNA to evaluate both somatic mutations and gene specific amplification in patients with MBC.
Finally, NEIL3 expression was shown to be correlated with the expression of APOBEC3B, a potent inducer of mutations, possibly explaining why an increased NEIL3 expression level was associated with the somatic mutation load in cancer.
Somatic mutations or genetic instability proposed by Caetano-Anolles (1999) could be leading causes of these off-types.
Furthermore, identifying one or several cells in the body that have a somatic mutation and quantifying the increased risk of developing cancer or any other disease in the future is not accurately possible with current scientific techniques.
sup][10] The development of next-generation sequencing (NGS) has enabled the detection of cfDNA which represents somatic mutations of individual tumors.
The collection of 8 probes targeting recurrent somatic mutations at both EZH2 and STAT6 hotspots specifically reported the presence of mutant DNA in amounts as low as 0.
One straightforward, heuristic approach to identifying relevant cancer genes from somatic mutation profiles involves characterizing the pattern of recurrent alterations across a large population.
A reconsideration of the somatic mutation theory of cancer in the light of some recent developments.
In 2011, The Cancer Genome Atlas Project reported germline and somatic mutation frequencies in 316 cases of high-grade serous ovarian cancer as 8.
338T>G mutation, which has been previously reported as a somatic mutation in lung cancer (25, 26).
These next generation sequencing (NGS) technologies can interrogate tens of thousands of somatic mutation sites in a single day.
This novel somatic mutation is associated with clinical features and prognoses of ET and might provide useful leads regarding tumorigenesis.