point mutation

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Related to Base-pair substitution: point mutation

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.

point mu·ta·tion

a mutation that involves a single nucleotide; it may consist of loss of a nucleotide, substitution of one nucleotide for another, or the insertion of an additional nucleotide.

point mutation

n.
A mutation that changes one nucleotide in a gene or DNA sequence by substitution, deletion, or addition.

point mutation

Etymology: L, punctus, pricked, mutare, to change
a mutation in which only a single nucleotide of DNA is changed.

point mu·ta·tion

(poynt myū-tā'shŭn)
A mutation that involves a single nucleotide; it may consist of loss of a nucleotide, substitution of one nucleotide for another, or the insertion of an additional nucleotide.

point mutation

The replacement of one NUCLEOTIDE with another. This need not necessarily cause any change in the protein produced by the affected gene because 18 of the 20 amino acids have more than one coding triplet of base pairs (codon). Glycine, for instance, is coded for by GGA, GGU, GGG and GGC. This redundancy feature of the genetic code arises because the four bases, taken three at a time, allow 64 triplets to code the 20 amino acids and the three stop codons. It is called degeneracy.

point mutation

or

gene mutation

a genetic change affecting a single LOCUS, producing an alternative ALLELE of the gene, but not a gross structural change to the chromosome. The genetic change consists of an altered sequence of DNA bases, which can be of three main types:
  1. (a) a SUBSTITUTION MUTATION,
  2. (b) a DELETION MUTATION and
  3. (c) an INSERTION MUTATION, the latter two often causing a major change to the amino acid sequence of the protein structure. Compare CHROMOSOMAL 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).