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In biology, and especially in genetics, a mutant is an organism or a new genetic character arising or resulting from an instance of mutation, which is generally an alteration of the DNA sequence of the genome or chromosome of an organism. It is a characteristic that would not be observed naturally in a specimen. The term mutant is also applied to a virus with an alteration in its nucleotide sequence whose genome is in the nuclear genome. The natural occurrence of genetic mutations is integral to the process of evolution. The study of mutants is an integral part of biology; by understanding the effect that a mutation in a gene has, it is possible to establish the normal function of that gene.Clock Mutants of ''Drosophila melanogaster''
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Mutants arise by mutation

Mutants arise by mutations occurring in pre-existing genomes as a result of errors of DNA replication or errors of DNA repair. Errors of replication often involve translesion synthesis by a DNA polymerase when it encounters and bypasses a damaged base in the template strand. A
DNA damage DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. In human cells, both normal metabolic activities and environmental factors such as radiation can cause DNA da ...
is an abnormal chemical structure in DNA, such as a strand break or an oxidized base, whereas a mutation, by contrast, is a change in the sequence of standard base pairs. Errors of repair occur when repair processes inaccurately replace a damaged DNA sequence. The DNA repair process microhomology-mediated end joining is particularly error-prone.


Etymology

Although not all mutations have a noticeable phenotypic effect, the common usage of the word "mutant" is generally a pejorative term, only used for genetically or phenotypically noticeable mutations.Mutant. (n.d.). ''The American Heritage Dictionary of the English Language'', Fourth Edition. Retrieved March 05, 2008, from Dictionary.com
/ref> Previously, people used the word "sport" (related to
spurt Spurt may refer to: * Secretory protein in upper respiratory tracts, a gene encoding a secretory protein * Spurt (Dutch Railways), a trade name for certain Dutch Rail routes See also * * * Blood spurt * Growth spurt, the increase in bone growth ...
) to refer to abnormal specimens. The scientific usage is broader, referring to any organism differing from the wild type. The word finds its origin in the Latin term mūtant- (stem of mūtāns), which means "to change". Mutants should not be confused with organisms born with developmental abnormalities, which are caused by errors during morphogenesis. In a developmental abnormality, the DNA of the organism is unchanged and the abnormality cannot be passed on to progeny. Conjoined twins are the result of developmental abnormalities. Chemicals that cause developmental abnormalities are called teratogens; these may also cause mutations, but their effect on development is not related to mutations. Chemicals that induce mutations are called
mutagen In genetics, a mutagen is a physical or chemical agent that permanently changes nucleic acid, genetic material, usually DNA, in an organism and thus increases the frequency of mutations above the natural background level. As many mutations can ca ...
s. Most mutagens are also considered to be carcinogens.


Epigenetic alterations

Mutations are distinctly different from
epigenetic In biology, epigenetics is the study of stable phenotypic changes (known as ''marks'') that do not involve alterations in the DNA sequence. The Greek prefix '' epi-'' ( "over, outside of, around") in ''epigenetics'' implies features that are "o ...
alterations, although they share some common features. Both arise as a
chromosomal A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are ...
alteration that can be replicated and passed on to subsequent cell generations. Both, when occurring within a gene, may silence expression of the gene. Whereas mutant cell lineages arise as a change in the sequence of standard bases, epigenetically altered cell lineages retain the sequence of standard bases but have gene sequences with changed levels of expression that can be passed down to subsequent cell generations. Epigenetic alterations include
methylation In the chemical sciences, methylation denotes the addition of a methyl group on a substrate, or the substitution of an atom (or group) by a methyl group. Methylation is a form of alkylation, with a methyl group replacing a hydrogen atom. These t ...
of
CpG islands The CpG sites or CG sites are regions of DNA where a cytosine nucleotide is followed by a guanine nucleotide in the linear sequence of bases along its 5' → 3' direction. CpG sites occur with high frequency in genomic regions called CpG isl ...
of a gene promoter as well as specific chromatin histone modifications. Faulty repair of chromosomes at sites of DNA damage can give rise both to mutant cell lineages and/or epigenetically altered cell lineages.


See also

* Evolution *
Genetic engineering Genetic engineering, also called genetic modification or genetic manipulation, is the modification and manipulation of an organism's genes using technology. It is a set of technologies used to change the genetic makeup of cells, including t ...
*
Genetically modified organism A genetically modified organism (GMO) is any organism whose genetic material has been altered using genetic engineering techniques. The exact definition of a genetically modified organism and what constitutes genetic engineering varies, with ...
* Mutants in fiction * Mutationism * Synthetic lethality *
Synthetic viability Synthetic rescue (or synthetic recovery or synthetic viability when a lethal phenotype is rescued ) refers to a genetic interaction in which a cell that is nonviable, sensitive to a specific drug, or otherwise impaired due to the presence of a genet ...


References


External links

{{Wikiquote
Antennapedia mutant
Evolutionary biology Classical genetics Mutation