Waksman Institute of Microbiology, Rutgers University, 190 Frelinghuysen Road, Piscataway, NJ 08854, USA.
Theor Appl Genet. 2013 Jan;126(1):159-77. doi: 10.1007/s00122-012-1970-z. Epub 2012 Sep 18.
Complex silencing mechanisms in plants and other kingdoms target transposons, repeat sequences, invasive viral nucleic acids and transgenes, but also endogenous genes and genes involved in paramutation. Paramutation occurs in a heterozygote when a transcriptionally active allele heritably adopts the epigenetic state of a transcriptionally and/or post-transcriptionally repressed allele. P1-rr and its silenced epiallele P1-pr, which encode a Myb-like transcription factor mediating pigmentation in floral organs of Zea mays, differ in their cytosine methylation pattern and chromatin structure at a complex enhancer site. Here, we tested whether P1-pr is able to heritably silence its transcriptionally active P1-rr allele in a heterozygote and whether DNA methylation is associated with the establishment and maintenance of P1-rr silencing. We found that P1-pr participates in paramutation as the repressing allele and P1-rr as the sensitive allele. Silencing of P1-rr is highly variable compared to the inducing P1-pr resulting in a wide range of gene expression. Whereas cytosine methylation at P1-rr is negatively correlated with transcription and pigment levels after segregation of P1-pr, methylation lags behind the establishment of the repressed p1 gene expression. We propose a model in which P1-pr paramutation is triggered by changing epigenetic states of transposons immediately adjacent to a P1-rr enhancer sequence. Considering the vast amount of transposable elements in the maize genome close to regulatory elements of genes, numerous loci could undergo paramutation-induced allele silencing, which could also have a significant impact on breeding agronomically important traits.
植物和其他生物界中的复杂沉默机制靶向转座子、重复序列、入侵的病毒核酸和转基因,也靶向内源基因和涉及基因变异的基因。基因变异发生在杂合子时,当一个转录活跃的等位基因遗传地采用转录和/或转录后抑制的等位基因的表观遗传状态时。P1-rr 及其沉默的等位基因 P1-pr 编码一个 Myb 样转录因子,在玉米花器官中介导色素形成,它们在一个复杂的增强子位点的胞嘧啶甲基化模式和染色质结构上存在差异。在这里,我们测试了 P1-pr 是否能够在杂合子中遗传地沉默其转录活跃的 P1-rr 等位基因,以及 DNA 甲基化是否与 P1-rr 沉默的建立和维持有关。我们发现 P1-pr 作为抑制等位基因,而 P1-rr 作为敏感等位基因参与基因变异。与诱导性的 P1-pr 相比,P1-rr 的沉默高度可变,导致基因表达的广泛范围。虽然 P1-rr 的胞嘧啶甲基化与 P1-pr 分离后的转录和色素水平呈负相关,但甲基化滞后于受抑制的 p1 基因表达的建立。我们提出了一个模型,即 P1-pr 基因变异是由紧邻 P1-rr 增强子序列的转座子的表观遗传状态变化触发的。考虑到玉米基因组中大量的转座元件靠近基因的调控元件,许多基因座可能会经历由基因变异诱导的等位基因沉默,这也可能对具有重要农艺性状的品种选育产生重大影响。