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In
biology Biology is the scientific study of life and living organisms. It is a broad natural science that encompasses a wide range of fields and unifying principles that explain the structure, function, growth, History of life, origin, evolution, and ...
, and especially in
genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian ...
, a mutant is an organism or a new genetic character arising or resulting from an instance of
mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...
, which is generally an alteration of the
DNA Deoxyribonucleic acid (; DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix. The polymer carries genetic instructions for the development, functioning, growth and reproduction of al ...
sequence of the
genome A genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as ...
or
chromosome A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most import ...
of an
organism An organism is any life, living thing that functions as an individual. Such a definition raises more problems than it solves, not least because the concept of an individual is also difficult. Many criteria, few of them widely accepted, have be ...
. It is a characteristic that would not be observed naturally in a specimen. The term mutant is also applied to a
virus A virus is a submicroscopic infectious agent that replicates only inside the living Cell (biology), cells of an organism. Viruses infect all life forms, from animals and plants to microorganisms, including bacteria and archaea. Viruses are ...
with an alteration in its
nucleotide sequence A nucleic acid sequence is a succession of bases within the nucleotides forming alleles within a DNA (using GACT) or RNA (GACU) molecule. This succession is denoted by a series of a set of five different letters that indicate the order of the nu ...
whose
genome A genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as ...
is in the
nuclear genome Nuclear DNA (nDNA), or nuclear deoxyribonucleic acid, is the DNA contained within each cell nucleus of a eukaryotic organism. It encodes for the majority of the genome in eukaryotes, with mitochondrial DNA and plastid DNA coding for the rest. It ...
. The natural occurrence of genetic mutations is integral to the process of
evolution Evolution is the change in the heritable Phenotypic trait, characteristics of biological populations over successive generations. It occurs when evolutionary processes such as natural selection and genetic drift act on genetic variation, re ...
. 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''
/ref>


Mutants arise by mutation

Mutants arise by
mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...
s occurring in pre-existing
genome A genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as ...
s as a result of errors of
DNA replication In molecular biology, DNA replication is the biological process of producing two identical replicas of DNA from one original DNA molecule. DNA replication occurs in all life, living organisms, acting as the most essential part of heredity, biolog ...
or errors of
DNA repair DNA repair is a collection of processes by which a cell (biology), cell identifies and corrects damage to the DNA molecules that encode its genome. A weakened capacity for DNA repair is a risk factor for the development of cancer. DNA is cons ...
. Errors of replication often involve
translesion synthesis DNA repair is a collection of processes by which a cell (biology), cell identifies and corrects damage to the DNA molecules that encode its genome. A weakened capacity for DNA repair is a risk factor for the development of cancer. DNA is cons ...
by a
DNA polymerase A DNA polymerase is a member of a family of enzymes that catalyze the synthesis of DNA molecules from nucleoside triphosphates, the molecular precursors of DNA. These enzymes are essential for DNA replication and usually work in groups to create t ...
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. A weakened capacity for DNA repair is a risk factor for the development of cancer. DNA is constantly modified ...
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 Microhomology-mediated end joining (MMEJ), also known as alternative nonhomologous end-joining (Alt-NHEJ) is one of the pathways for repairing double-strand breaks in DNA. As reviewed by McVey and Lee, the foremost distinguishing property of MMEJ ...
is particularly error-prone.


Etymology

Although not all mutations have a noticeable
phenotypic In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological propert ...
effect, the common usage of the word "mutant" is generally a
pejorative A pejorative word, phrase, slur, or derogatory term is a word or grammatical form expressing a negative or disrespectful connotation, a low opinion, or a lack of respect toward someone or something. It is also used to express criticism, hosti ...
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) to refer to abnormal specimens. The scientific usage is broader, referring to any organism differing from the
wild type The wild type (WT) is the phenotype of the typical form of a species as it occurs in nature. Originally, the wild type was conceptualized as a product of the standard "normal" allele at a locus, in contrast to that produced by a non-standard, " ...
. 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 Morphogenesis (from the Greek ''morphê'' shape and ''genesis'' creation, literally "the generation of form") is the biological process that causes a cell, tissue or organism to develop its shape. It is one of three fundamental aspects of deve ...
. In a developmental abnormality, the DNA of the organism is unchanged and the abnormality cannot be passed on to progeny.
Conjoined twins Conjoined twins, popularly referred to as Siamese twins, are twins joined '' in utero''. It is a very rare phenomenon, estimated to occur in anywhere between one in 50,000 births to one in 200,000 births, with a somewhat higher incidence in south ...
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 genetic material, usually DNA, in an organism and thus increases the frequency of mutations above the natural background level. As many mutations can cause cancer in ...
s. Most mutagens are also considered to be
carcinogen A carcinogen () is any agent that promotes the development of cancer. Carcinogens can include synthetic chemicals, naturally occurring substances, physical agents such as ionizing and non-ionizing radiation, and biologic agents such as viruse ...
s.


Epigenetic alterations

Mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...
s are distinctly different from
epigenetic In biology, epigenetics is the study of changes in gene expression that happen without changes to the DNA sequence. The Greek prefix ''epi-'' (ἐπι- "over, outside of, around") in ''epigenetics'' implies features that are "on top of" or "in ...
alterations, although they share some common features. Both arise as a
chromosomal A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most importa ...
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 Methylation, in the chemistry, chemical sciences, is the addition of a methyl group on a substrate (chemistry), substrate, or the substitution of an atom (or group) by a methyl group. Methylation is a form of alkylation, with a methyl group replac ...
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

* p.r. Morin mutagenic 2133075 U.S.M.C. Done
Evolution Evolution is the change in the heritable Phenotypic trait, characteristics of biological populations over successive generations. It occurs when evolutionary processes such as natural selection and genetic drift act on genetic variation, re ...
*
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 Genetic engineering techniques, technologies used to change the genet ...
*
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 The concept of a mutant is a common trope in fiction. The new phenotypes that appear in fictional mutations generally go far beyond what is typically seen in mutants in reality, and often result in the mutated life form exhibiting superhuman abili ...
*
Mutationism Mutationism is one of several alternatives to evolution by natural selection that have existed both before and after the publication of Charles Darwin's 1859 book ''On the Origin of Species''. In the theory, mutation was the source of novelty, cr ...
*
Synthetic lethality Synthetic lethality is defined as a type of genetic interaction where the combination of two genetic events results in cell death or death of an organism. Although the foregoing explanation is wider than this, it is common when referring to synthet ...
* Synthetic viability


References


External links

{{Wikiquote
Antennapedia mutant
Evolutionary biology Classical genetics Mutation