gain-of-function mutation


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Related to gain-of-function mutation: back mutation, genetic mutation, gene mutation, conditional mutant

gain-of-function mutation

Genetics Any mutation that results in a new activity–eg, activation of a proto-oncogene, Cf Loss-of-function mutation.

gain-of-function mutation

A change in DNA that results in the synthesis of a protein with a new or different function. Gain-of-function mutations are typically dominant.
See also: mutation
References in periodicals archive ?
In addition to these five examples described above, mutations in splicing machinery (U2AF1, SF3B1) are thought to be gain-of-function mutations limited to particular residues that are conserved among species.
The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations.
12) Many possible MAPK-dependent mechanisms of resistance to BRAF inhibitors have been proposed, including secondary BRAF aberrations, indirect RAS activation through gain-of-function mutations of NRAS/KRAS or loss-of-function mutations of NF-1, and gain-of-function mutations of other, more downstream kinases.
The detection of gain-of-function mutations in the gene encoding the KIT receptor, and rare mutations in PDGFR[alpha], was the hallmark of understanding the biology of GISTs.
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
They attest to the importance, even dominance, of loss-of-function mutations in short-term evolutionary episodes, thus threatening the progressive evolution of new traits that depend on the accumulation of gain-of-function mutations.
2) Perhaps, the most critical development that distinguished GIST as a unique clinical entity was the discovery of c-kit proto-oncogene gain-of-function mutations in these tumors by Hirota and collegues in 1998.
This is known to be driven by gain-of-function mutations in the Ret pathway, and patients with such mutations show a greatly increased rate of endocrine tumors (thyroid, especially).