Gain-of function

Gain-of-function (familial, autosomal dominant) High-bone-mass trait (increased osteogenic activity)... 

M. S. Brown. cDNA cloning of MEV, a mutant protein that facilitates cellular uptake of mevalonate, and identification of the point mutation responsible for its gain of function. J. Biol. Chem. 1992, 267, 23113-23121. 

Arensdorf, J. J. Loomis, A. K. DiGrazia, P. M., et al., Chemostat approach for the directed evolution of biodesulfurization gain-of-function mutants. Applied and Environmental Microbiology, 2002. 68(2) pp. 691-698. 

Mason DA, Moore JD, Green SA, Li-gett SB. A gain-of-function polymorphism in a G-protein coupling domain of the human /E-adrenergic receptor. J Biol Chem 1999 274 12670-12674. 

O Shaughnessy KM, Fu B, Dickerson C, Thurston D, Brown MJ. The gain-of-function G389R variant of the / -adrenoreceptor does not influence blood pressure or heart rate response to /1-blockade in hypertensive subjects. Clin Science 2000 99 233-238. 

The mechanism by which the mutated a-synuclein produces toxicity is not clear, but it is thought that the mutated protein forms fibrils, and the oligomers or fibrils formed from this protein exert a toxic gain of function leading to disruption of proteasomal function and the formation of Lewy bodies. However, as evidenced by the... 

The mutated gene products in all these cases exhibit toxic gain of function. See Triplet Repeat Disorders in Ch. 39 and Huntington s Disease in Chs 39 and 46 for discussions of genetic pathology. 

SUZUKI, Y, UEMURA, S., SAITO, Y., MUROFUSHI, N., SCHMITZ, G., THERES, K., YAMAGUCHI, I., A novel transposon tagging element for obtaining gain-of-function mutants based on a self-stabilizing Ac derivative, Plant Mol. Biol., 2001, 45, 123-131. 

A third yeast prion, PIN, is similar in some respects, but its non-prion domain—in this case, the N-terminal part of the molecule—has no established cellular function. The protein Rnqlp is a gain-of-function prion whose activity is expressed via its ability to induce [PS/]. [PIN] forms much more readily than the other two prions, and [PIN] cells induce [PSI] under... 

Consistent with this proposition, variants have been reported for all the other systems but not for [Het-s]. (4) [Het-s] is a gain-of-function prion and the only prion currently on record to have an evolved cellular function, specifically, a key role in heterokaryon incompatibility. How this function is accomplished is unclear but it seems possible that the prion filaments may constitute some kind of platform on which allelic comparison can be performed. 

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