Kato Masaomi, Takashima Kazuya, Kakutani Tetsuji
Department of Integrated Genetics, National Institute of Genetics, Mishima, Shizuoka 411-8540, Japan.
Genetics. 2004 Oct;168(2):961-9. doi: 10.1534/genetics.104.029637.
Epigenetic mutation, heritable developmental variation not based on a change in nucleotide sequence, is widely reported in plants. However, the developmental and evolutionary significance of such mutations remains enigmatic. On the basis of our studies of the endogenous Arabidopsis transposon CACTA, we propose that the inheritance of epigenetic gene silencing over generations can function as a transgenerational genome defense mechanism against deleterious movement of transposons. We previously reported that silent CACTA1 is mobilized by the DNA hypomethylation mutation ddm1 (decrease in DNA methylation). In this study, we report that CACTA activated by the ddm1 mutation remains mobile in the presence of the wild-type DDM1 gene, suggesting that de novo silencing is not efficient for the defense of the genome against CACTA movement. The defense depends on maintenance of transposon silencing over generations. In addition, we show that the activated CACTA1 element transposes throughout the genome in DDM1 plants, as reported previously for ddm1 backgrounds. Furthermore, the CACTA1 element integrated into both the ddm1-derived and the DDM1-derived chromosomal regions in the DDM1 wild-type plants, demonstrating that this class of transposons does not exhibit targeted integration into heterochromatin, despite its accumulation in the pericentromeric regions in natural populations. The possible contribution of natural selection as a mechanism for the accumulation of transposons and evolution of heterochromatin is discussed.
表观遗传突变是指不基于核苷酸序列变化的可遗传发育变异,在植物中广泛存在。然而,此类突变的发育和进化意义仍不明确。基于我们对拟南芥内源转座子CACTA的研究,我们提出表观遗传基因沉默的世代遗传可作为一种跨代基因组防御机制,抵御转座子的有害移动。我们之前报道过,沉默的CACTA1可被DNA低甲基化突变ddm1(DNA甲基化减少)激活。在本研究中,我们报道由ddm1突变激活的CACTA在野生型DDM1基因存在的情况下仍具有移动性,这表明从头沉默对于基因组抵御CACTA移动的防御作用并不高效。这种防御依赖于转座子沉默的世代维持。此外,正如之前在ddm1背景中报道的那样,我们发现激活的CACTA1元件在DDM1植物中可在整个基因组中转座。此外,CACTA1元件整合到了DDM1野生型植物中源自ddm1和源自DDM1的染色体区域,这表明这类转座子尽管在自然种群中在着丝粒周围区域积累,但并不表现出靶向整合到异染色质中。我们还讨论了自然选择作为转座子积累和异染色质进化机制的可能作用。