Developmental abnormalities and epimutations associated with DNA hypomethylation mutations.

We have previously described the isolation of two independent recessive alleles of the DDMJ locus that cause an approximately 70% reduction in genomic 5-methylcytosine content

T. Kakutani; J. A. Jeddeloh; S. K. Flowers; K. Munakata; E. J. Richards

2002

Scholarcy highlights

  • DNA modification has been postulated to play a central role in epigenetic regulation by modulating access to the genetic information
  • The results presented here indicate that loss of A. thaliana wild-type DDM1 gene function leads to developmental defects
  • We show that the ddml mutations lead to a slow loss of methylation in non-telomeric single-copy sequences
  • The DNA methylation system appears to operate differently on the single-copy versus repetitive genomic compartments because methylation of the two sequence classes is differentially affected by ddml mutations
  • A variety of morphological anomalies were generated at a high frequency in ddml/ddml lines propagated through several generations by self-pollination
  • The onset of the phenotypes was strictly associated with the ddml mutations and never occurred in wild-type sibling lines propagated in parallel with the ddml mutant lines
  • The variation in phenotypic severity seen among siblings in selfed populations could be due, in part, to continued creation of new epimutations in somatic tissue followed by transmission to and segregation in the generation

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