Nikolaeva-Reynolds Lucia, Cammies Christopher, Crichton Rosemary, Gorochowski Thomas E
School of Biological Sciences, University of Bristol, 24 Tyndall Avenue, Bristol BS8 1TQ, UK.
R Soc Open Sci. 2025 Apr 23;12(4):242110. doi: 10.1098/rsos.242110. eCollection 2025 Apr.
Metabarcoding is a valuable tool for characterizing the communities that underpin the functioning of ecosystems. However, current methods often rely on polymerase chain reaction (PCR) amplification for enrichment of marker genes. PCR can introduce significant biases that affect quantification and is typically restricted to one target loci at a time, limiting the diversity that can be captured in a single reaction. Here, we address these issues by using Cas9 to enrich marker genes for long-read nanopore sequencing directly from a DNA sample, removing the need for PCR. We show that this approach can effectively isolate a 4.5 kb region covering partial 18S and 28S rRNA genes and the ITS region in a mixed nematode community, and further adapt our approach for characterizing a diverse microbial community. We demonstrate the ability for Cas9-based enrichment to support multiplexed targeting of several different DNA regions simultaneously, enabling optimal marker gene selection for different clades of interest within a sample. We also find a strong correlation between input DNA concentrations and output read proportions for mixed-species samples, demonstrating the ability for quantification of relative species abundance. This study lays a foundation for targeted long-read sequencing to more fully capture the diversity of organisms present in complex environments.
代谢条形码技术是一种用于表征支撑生态系统功能的群落的重要工具。然而,目前的方法通常依赖聚合酶链反应(PCR)扩增来富集标记基因。PCR会引入显著偏差,影响定量分析,且通常一次只能针对一个目标位点,限制了单次反应中能够捕获的多样性。在此,我们通过使用Cas9直接从DNA样本中富集标记基因用于长读长纳米孔测序,解决了这些问题,不再需要PCR。我们表明,这种方法能够有效地分离出一个覆盖混合线虫群落中部分18S和28S rRNA基因以及ITS区域的4.5 kb区域,并进一步调整我们的方法以表征多样的微生物群落。我们证明了基于Cas9的富集能够同时支持对几个不同DNA区域的多重靶向,从而能够为样本中不同目标进化枝选择最佳标记基因。我们还发现混合物种样本的输入DNA浓度与输出读数比例之间存在很强的相关性,证明了定量相对物种丰度的能力。这项研究为靶向长读长测序奠定了基础,以便更全面地捕获复杂环境中存在的生物多样性。