State Key Laboratory of Biocontrol, Higher Education Mega Center, School of Life Sciences, College of Ecology and Evolution, Sun Yat-Sen University, #434, Guangzhou, 510006, China.
Mol Genet Genomics. 2021 May;296(3):527-539. doi: 10.1007/s00438-021-01775-0. Epub 2021 Apr 2.
Cis-regulatory sequences play a crucial role in regulating gene expression and are evolutionary hot spots that drive phenotypic divergence among organisms. Sequencing some cis-regulatory regions of interest in many different species is common in comparative genetic studies. For nonmodel organisms lacking genomic data, genome walking is often the preferred method for this type of application. However, applying genome walking will be laborious and time-consuming when the number of cis-regulatory regions and species to be analyzed is large. In this study, we propose a novel method called amplicon genome fishing (AGF), which can isolate and sequence cis-regulatory regions of interest for any organism. The main idea of the AGF method is to use fragments amplified from the target cis-regulatory regions as enrichment baits to capture and sequence the whole target cis-regulatory regions from genomic library pools. Unlike genome walking, the AGF method is based on hybridization capture and high-throughput sequencing, which makes this method rapid and efficient for projects where some cis-regulatory regions have to be sequenced for many species. We used human amplicons as capture baits and successfully sequenced five target enhancer regions of Homo sapiens, Mus musculus, Gallus gallus, and Xenopus tropicalis, proving the feasibility and repeatability of AGF. To show the utility of the AGF method in real studies, we used it to sequence the ZRS enhancer, a cis-regulatory region associated with the limb loss of snakes, for twenty-three vertebrate species (includes many limbless species never sequenced before). The newly obtained ZRS sequences provide new perspectives into the relationship between the ZRS enhancer's evolution and limb loss in major tetrapod lineages.
顺式调控序列在调节基因表达方面起着至关重要的作用,是驱动生物之间表型分歧的进化热点。在比较遗传研究中,常见的做法是对许多不同物种的感兴趣的顺式调控区域进行测序。对于缺乏基因组数据的非模式生物,基因组步移通常是这种应用的首选方法。然而,当需要分析的顺式调控区域和物种数量较多时,应用基因组步移将是费力且耗时的。在本研究中,我们提出了一种称为扩增子基因组捕捞(AGF)的新方法,该方法可用于任何生物体中感兴趣的顺式调控区域的分离和测序。AGF 方法的主要思想是使用从目标顺式调控区域扩增的片段作为富集诱饵,从基因组文库池捕获和测序整个目标顺式调控区域。与基因组步移不同,AGF 方法基于杂交捕获和高通量测序,这使得该方法在需要对许多物种的一些顺式调控区域进行测序的项目中快速而高效。我们使用人类扩增子作为捕获诱饵,成功地对人类、小家鼠、鸡和非洲爪蟾的五个目标增强子区域进行了测序,证明了 AGF 的可行性和可重复性。为了展示 AGF 方法在实际研究中的实用性,我们使用它对与蛇类肢体缺失相关的顺式调控区域 ZRS 进行了测序,共对 23 种脊椎动物物种(包括以前从未测序过的许多无肢物种)进行了测序。新获得的 ZRS 序列为 ZRS 增强子的进化与主要四足动物谱系中肢体缺失之间的关系提供了新的视角。