Mutation

A Mutation is a change in genetic information. It is caused by various influences - the most common mutagens are: * physical factors (UV and ionizing radiation); * chemical factors' (e.g. planar aromatic compounds, strong oxidant, radical initiators); * biological factors (viral infections etc.).

This is a random process, but at the same time it has been proven that in some areas of the genome, mutations occur more often and are referred to as 'hot-spots.

The mutation, if manifested (see below), can cause serious disease, either various birth defects or neoplasia. However, it is also considered one of the mechanisms of evolution.

Mutations are prevented by DNA repair processes, or so-called ``back mutations''. The increased incidence of mutations occurs with a defect in the genes encoding repair enzymes (mutator genes), which is the basis of various diseases (e.g. Fanconi pancytopenia, xeroderma pigmentosum,  Cockayne syndrome).

Distribution of mutations
According to the cell line affected by the mutation: * somatic mutations' — mutations that are not inherited from parents and cannot be passed on to offspring (they do not affect sex cells);

* germ cell mutations (germline mutations) — mutations that can be inherited from parents and can be passed on to offspring (affect germ cells)

By genome region and expression: * coding regions — mostly cause pathology, depending on what change has occurred (see below); * non-coding regions — usually they do not show up and these are so-called silent mutations, if the change did not occur in the following non-coding regions: :* promoters, enhancers and silencers — affect gene expression; incorrect expression of proto-oncogenes and onco-suppressor genes is then the cause of tumor growth; :* introns — so-called exonization of an intron can occur and then these are 'splicing mutations; they stand out in particular. * Cryptic mutations — in regions very similar to splice sites. According to the change of genetic information: * point mutations' — a change in one nucleotide: it can be: :* deletions (analogous to mutations of larger areas), :* "advertising" (also), :* substitution: :*# transition — change of purine to purine or pyrimidineu to pyrimidine (C → T, T → C, A → G, G → A); :*# transversion — change of purine to pyrimidine or vice versa (A → T, T → A, C → A, A → C, G → T, T → G, G → C, C → G). ::* manifestations depend on whether the codon with the swapped base codes for the amino acid the same, a different one, or none: :::# samesense (silent) — this is a so-called silent mutation (the same amino acid is included); :::# missense — another amino acid is inserted and the function of the gene product can be changed or even disabled; :::# nonsense — the substitution will cause a new stop codon and thus a shorter gene product, which will probably be non-functional.


 * mutace rozsáhlejších oblastí:
 * delece — způsobí, že bude ve výsledném proteinu méně aminokyselin. Zároveň, pokud počet deletovaných nukleotidů není násobek tří, dochází k frameshiftu – s velkou pravděpodobností se v blízkém okolí vyskytne nově vzniklý stop kodon a protein bude nejspíše nefunkční;
 * inzerce — do výsledného proteinu se zařadí více aminokyselin, obdobně jako u delece může docházet k frameshiftu;
 * jiné strukturní chromosomové aberace.

800px|střed|Příklady klinicky významných mutací

Související články

 * Nádory
 * Apoptóza
 * Dynamické mutace
 * Evoluce
 * Vrozené vady
 * (Proto)onkogeny
 * Onkosupresorové geny
 * Mutátorové geny
 * Fanconiho pancytopenie
 * Xeroderma pigmentosum
 * Chromozomální abnormality
 * Genetický kód