T. Kakutani et al., DEVELOPMENTAL ABNORMALITIES AND EPIMUTATIONS ASSOCIATED WITH DNA HYPOMETHYLATION MUTATIONS, Proceedings of the National Academy of Sciences of the United Statesof America, 93(22), 1996, pp. 12406-12411
A number of aberrant morphological phenotypes were noted during propag
ation of the Arabidopsis thaliana DNA hypomethylation mutant, ddm1, by
repeated self-pollination, Onset of a spectrum of morphological abnor
malities, including defects in leaf structure, flowering time, and flo
wer structure, was strictly associated with the ddm1 mutations, The mo
rphological phenotypes arose at a high frequency in selfed ddm1 mutant
lines and some phenotypes became progressively more severe in advanci
ng generations. The transmission of two common morphological trait syn
dromes in genetic crosses demonstrated that the phenotypes are caused
by heritable lesions that develop in ddm1 mutant backgrounds, Loss of
cytosine methylation in specific genomic sequences during the selfing
regime was noted in the ddm1 mutants. Potential mechanisms for formati
on of the lesions underlying the morphological abnormalities are discu
ssed.