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

MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

References in periodicals archive ?
1 A gain-of-function mutation JAK2V617F is considered as major criterion for the diagnosis of polycythemia vera according to WHO1'2.
As for the mutations of the molecules involved in splicing machinery, it has been suggested that these mutations either induce genomic instability or abnormal splicing of specific genes (57,58) although it is not clear whether they are loss-of-function mutations or gain-of-function mutations.
Our results provide further support to the hypothesis that the DFNA5 -associated hearing loss is caused by a very special gain-of-function mutation.
The defect in type 2B VWD (5%-8% of all VWD cases) is a gain-of-function mutation in VWF that causes an increased affinity for the platelet GP1b receptor, resulting in continuous formation and clearance of VWF-platelet complexes (1-3).
The authors then performed exon 28 sequencing of the patient's VWF gene, (3) disclosing no abnormalities (excluding type 2B VWD), followed by sequencing of GP1BA that identified a previously reported gain-of-function mutation in the platelet VWF receptor, confirming PT-VWD in the overall data context.
The first gain-of-function mutation associated with venous thrombosis [the G1691A substitution in the F5 [3] gene, coagulation factor V (proaccelerin, labile factor)] was also found by studying an abnormal plasma phenotype (resistance to activated protein C).
However, based on the knowledge that the G20210A substitution represents in vitro a gain-of-function mutation causing mRNA accumulation and increased protein synthesis (7), creates in vitro but not in vivo a more effective polyadenylation site and cleavage site (7-9), and is proposed to be associated with different mRNA structures leading to abnormal mRNA function (9), it will be worthwhile to initiate additional studies to estimate the impact of this genetic variant on risk assessment for thrombotic events and adverse pregnancy outcomes.