Department of Genetics, Development and Cell Biology, Iowa State University, Ames, IA 50011, USA.
Department of Agronomy, Iowa State University, Ames, IA 50011, USA.
Genetics. 2021 Jun 24;218(2). doi: 10.1093/genetics/iyab062.
Chromosomal inversions can have considerable biological and agronomic impacts including disrupted gene function, change in gene expression, and inhibited recombination. Here, we describe the molecular structure and functional impact of six inversions caused by Alternative Transpositions between p1 and p2 genes responsible for floral pigmentation in maize. In maize line p1-wwB54, the p1 gene is null and the p2 gene is expressed in anther and silk but not in pericarp, making the kernels white. By screening for kernels with red pericarp, we identified inversions in this region caused by transposition of Ac and fractured Ac (fAc) transposable elements. We hypothesize that these inversions place the p2 gene promoter near a p1 gene enhancer, thereby activating p2 expression in kernel pericarp. To our knowledge, this is the first report of multiple recurrent inversions that change the position of a gene promoter relative to an enhancer to induce ectopic expression in a eukaryote.
染色体倒位可能会产生重大的生物学和农艺学影响,包括基因功能中断、基因表达改变和重组抑制。在这里,我们描述了由 p1 和 p2 基因之间的替代转座引起的六个倒位的分子结构和功能影响,这些倒位负责玉米花色素的形成。在 p1-wwB54 玉米品系中,p1 基因缺失,p2 基因在花药和花丝中表达,但不在果皮中表达,因此玉米粒呈白色。通过筛选具有红色果皮的玉米粒,我们鉴定出了该区域由 Ac 和断裂 Ac (fAc) 转座元件转座引起的倒位。我们假设这些倒位将 p2 基因启动子置于 p1 基因增强子附近,从而在玉米粒果皮中激活 p2 表达。据我们所知,这是第一个报道多个重复倒位改变基因启动子相对于增强子的位置,从而在真核生物中诱导异位表达的报告。