Department of Biological Sciences, Louisiana State University, Baton Rouge, LA, United States of America.
PLoS One. 2018 Oct 18;13(10):e0206112. doi: 10.1371/journal.pone.0206112. eCollection 2018.
How one allele interacts with the other for the function of a gene is not well understood. In this study, we tested potential allelic interaction at the Peg3 imprinted locus with several mutant alleles targeting an Imprinting Control Region, the Peg3-DMR. According to the results, maternal deletion of the Peg3-DMR resulted in 2-fold up-regulation of two paternally expressed genes, Peg3 and Usp29. These trans-allelic mutational effects were observed consistently throughout various tissues with different developmental stages. These effects were also associated mainly with the genetic manipulation of the Peg3-DMR, but not with the other genomic changes within the Peg3 locus. The observed trans-allelic effects were unidirectional with the maternal influencing the paternal allele, but not with the opposite direction. Overall, the observed mutational effects suggest the presence of previously unrecognized trans-allelic regulation associated with the Peg3-DMR.
一个等位基因如何与另一个等位基因相互作用以发挥基因的功能尚不清楚。在这项研究中，我们测试了针对印迹控制区 Peg3-DMR 的几种突变等位基因在 Peg3 印记基因座上的潜在等位基因相互作用。结果表明，Peg3-DMR 的母系缺失导致两个父系表达基因 Peg3 和 Usp29 的表达上调了两倍。这些跨等位基因突变效应在具有不同发育阶段的各种组织中始终一致地观察到。这些效应主要与 Peg3-DMR 的遗传操作有关，而与 Peg3 基因座内的其他基因组变化无关。观察到的跨等位基因效应是单向的，母系影响父系等位基因，但不是相反的方向。总的来说，观察到的突变效应表明存在与 Peg3-DMR 相关的先前未被识别的跨等位基因调控。
