Inverted duplicates are a type of repetitive DNA motifs consist of two copies of reverse complementary sequences separated by a spacer sequence. They can lead to genome instability and many may have no function, but some functional small RNAs are processed from hairpins transcribed from these elements. It is not clear whether the pervasive numbers of such elements in genomes, especially those of mammals, is the result of high generation rates of neutral or slightly deleterious duplication events or positive selection for functionality. To test the functionality of intergenic inverted duplicates without known functions, we used mirror duplicates, a type of repetitive DNA motifs with few reported functions and little potential to form hairpins when transcribed, as a nonfunctional control. We identified large numbers of inverted duplicates within intergenic regions of human and mouse genomes, as well as 19 other vertebrate genomes. Structure characterization of these inverted duplicates revealed higher proportion to form stable hairpins compared with converted mirror duplicates, suggesting that inverted duplicates may produce hairpin RNAs. Expression profiling across tissues demonstrated that 7.8% of human and 5.7% of mouse inverted duplicates were expressed even under strict criteria. We found that expressed inverted duplicates were more likely to be structurally stable than both unexpressed inverted duplicates and expressed converted mirror duplicates. By dating inverted duplicates in the vertebrate phylogenetic tree, we observed higher conservation of inverted duplicates than mirror duplicates. These observations support the notion that expressed inverted duplicates may be functional through forming hairpin RNAs.

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反向重复序列是一种重复的DNA基序,由两个由间隔区序列分隔的反向互补序列的拷贝组成。它们可能导致基因组不稳定,许多可能没有功能,但是一些功能性小rna是从这些元件转录的发夹中加工出来的。尚不清楚基因组中此类元素的普遍数量,尤其是哺乳动物的基因组中,是否是中性或轻微有害复制事件的高产生率或功能的积极选择的结果。为了测试没有已知功能的基因间倒置重复项的功能,我们使用了镜像重复项 (一种重复DNA基序,其报道功能很少,转录时形成发夹的潜力很小) 作为非功能对照。我们在人和小鼠基因组的基因间区域以及其他19个脊椎动物基因组中鉴定出大量的反向重复。与转换的镜像副本相比,这些倒置副本的结构表征显示出形成稳定发夹的比例更高,这表明倒置副本可能产生发夹rna。跨组织的表达谱表明,即使在严格的标准下,也表达了人类的7.8% 和小鼠倒置副本的5.7%。我们发现,表达的倒置重复项比未表达的倒置重复项和表达的转换镜像重复项更可能在结构上稳定。通过对脊椎动物系统发育树中的倒置重复物进行定年,我们观察到倒置重复物的保守性高于镜像重复物。这些观察结果支持以下观点: 表达的反向重复可能通过形成发夹rna而起作用。

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