Fourteen of the 16
mutant alleles identified were previously unknown.
Not exact matches
A forward genetic screen in Drosophila melanogaster (fruit flies)
identified mutant copies, or
alleles, of a gene called cacophony associated with defects in autophagy and cellular homeostasis.
Here, we
identify three additional novel
mutant alleles of the SHELL gene, which encode a type II MADS - box transcription factor, and determine oil yield via control of shell fruit form phenotype in a manner similar to two previously
identified mutant SHELL
alleles.
These
mutant kinases are attractive therapeutic targets, as demonstrated by the efficacy of imatinib in BCR - ABL — positive chronic myelogenous leukemia (CML), 5 as well as in MPD associated with activating
alleles involving PDGFRA or PDGFRB.2, 6,7 In addition, activating mutations in the FLT3 receptor tyrosine kinase are the most common genetic event in acute myeloid leukemia (AML), and specific inhibitors of the FMS - like tyrosine kinase 3 (FLT3) have entered late - stage clinical trials.8 Although mutations in tyrosine kinases and in other genes have been
identified in a subset of MPD and AML, in many cases the genetic events that contribute to the molecular pathogenesis of these diseases remain unknown.
A failure to
identify new unc - 124
alleles led us to sequence the unc - 7 coding region cloned from unc - 124 (hs10)
mutants (strain HH34), and a TGC to TAC change (C238Y) in the predicted second TM domain of UNC - 7 was
identified.
The sire of this dog was one of the animals that had produced RD affected puppies, and was inferred as having at least one copy of
mutant allele 1 based on examination of the remainder of the littermates of the carrier dog that was
identified.
Of twenty random dogs tested for the mutation, one carrier of
mutant allele 1 was
identified.