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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

A single amino acid change in a pathway-specific transcription factor results in differing degrees of constitutivity, hyperinducibility and derepression of several structural genes.

unYc462 is a gain-of-function mutation in the purine catabolism positive regulatory gene of Aspergillus nidulans. This allele leads to a constitutive, hyperinducible and derepressed expression of a least three genes controlled by uaY, and this occurs at different levels depending on the target gene. The uaYc462 allele was mapped physically in relation to known loss-of-function alleles and sequenced. uaYc462 is a one-base change in codon 222, resulting in a serine to leucine change. We propose that this mutation maps in a functional domain involved, directly or indirectly, in the interaction of UaY with other components of the transcriptional apparatus. A sequence similar to the motif surrounding serine 222 may play similar roles in the PPR1 and ADR1 proteins of Saccharomyces cerevisiae.[1]

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