Developmental abnormalities and epimutations associated with DNA hypomethylation mutations

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 93; no. 22; pp. 12406 - 12411
• Main Authors: Kakutani, T. (Washington University, St. Louis, MO.), Jeddeloh, J.A, Flowers, S.K, Munakata, K, Richards, E.J
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences of the United States of America 29-10-1996; National Acad Sciences; National Academy of Sciences
• Subjects: ADN; ANATOMIA DE LA PLANTA; ANATOMIE VEGETALE; Arabidopsis; ARABIDOPSIS THALIANA; AUTOFECONDATION FORCEE; AUTOFECUNDACION; AUTOPOLINIZACION; AUTOPOLLINISATION; Blotting, Southern; CARTE GENETIQUE; Chromosome Mapping; CITOSINA; CYTOSINE; Cytosine - metabolism; Deoxyribonucleic acid; DNA; DNA Methylation; ETAPAS DE DESARROLLO DE LA PLANTA; FENOTIPOS; Flowers & plants; Genetic loci; Genetic mutation; GENETICA; Genetics; GENETIQUE; Genomics; HEREDITE; HERENCIA GENETICA; Lesions; LOCI; LOCUS; MAPAS GENETICOS; METHYLATION; METILACION; MUTACION; Mutagenesis; MUTANT; MUTANTES; MUTATION; PHENOTYPE; Phenotypes; Plant morphology; Plants; SEGREGACION; SEGREGATION; Self pollination; STADE DE DEVELOPPEMENT VEGETAL; TRASTORNOS DEL CRECIMIENTO; TROUBLE DE LA CROISSANCE
• ISSN: 0027-8424; 1091-6490
• DOI: 10.1073/pnas.93.22.12406

A number of aberrant morphological phenotypes were noted during propagation of the Arabidopsis thaliana DNA hypomethylation mutant, ddm1, by repeated self-pollination. Onset of a spectrum of morphological abnormalities, including defects in leaf structure, flowering time, and flower structure, was strictly associated with the ddm1 mutations. The morphological phenotypes arose at a high frequency in selfed ddm1 mutant lines and some phenotypes became progressively more severe in advancing generations. The transmission of two common morphological trait syndromes 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 formation of the lesions underlying the morphological abnormalities are discussed.