These two mutants were gain-of-function alleles and exhibited similar twisted plant phenotypes.
The mutants were gained with a modified approach that uses electrotransfer of the IS 6100-based transposon vector pAT6100 into the C. glutamicum host cells.
Activation tag mutants are gain-of-function in which the expression of a gene is increased by the insertion of the Cauliflower mosaic virus 35S enhancer that acts on the natural promoter.
A deeper understanding of the molecular etiology of the mutant was gained when the causal genetic element for talpid was identified and characterized as a protein (now called TALPID3 after the mutant itself) that localizes to the basal body of the primary cilia (Yin et al., 2009).
Results In this study, zebrafish notch3 mutants were analyzed to gain insight into the mechanisms underlying CADASIL pathophysiology.
The Arabidopsis downy mildew resistant (dmr) mutants were isolated from a gain of function screen for resistance to the oomycete pathogen Hyaloperonospora arabidopsidis, following ethyl methanesulfonate (EMS) mutagenesis of plants of the susceptible genotype L er-0 harbouring the enhanced disease susceptibility mutation eds1- 2 (Van Damme et al. [ 21]).
Soon afterwards, p53 mutants were found to have gain-of-functions, which explain some oncogenic phenotypes of mutated p53 cDNAs [ 10].
This result indicates that cell death after H2O2 exposure is dependent on the amount of Tah18 and that tah18-5H8 and tah18-5I5 mutants are not gain-of-function mutants regarding their cell death phenotype in H2O2.
Our findings confirm that the ALKF1174I mutation, in keeping with the previously characterised ALKF1174S and ALKF1174L mutants, is a gain-of-function mutation that mediates activation of downstream targets such as ERK and STAT3 in a ligand-independent manner.
Thirteen mutants were generated in order to gain information about the thermodynamic and kinetic roles of topologically conserved tertiary interactions to folding and stability.
Finally, the identification of genes that are differentially regulated by WT versus mutant p53 is gaining increasing importance with the study of both loss and gain of functions of mutant p53 attempting to identify reasons behind the aggressiveness of cancers with mutations in p53.
