Farkas Carlos, Fuentes-Villalobos Francisco, Garrido Jose Luis, Haigh Jody, Barría María Inés
Oncology and Hematology, CancerCare Manitoba, Winnipeg, MB, Canada.
Department of Pharmacology and Therapeutics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
PeerJ. 2020 May 21;8:e9255. doi: 10.7717/peerj.9255. eCollection 2020.
Here we aim to describe early mutational events across samples from publicly available SARS-CoV-2 sequences from the sequence read archive and GenBank repositories. Up until 27 March 2020, we downloaded 50 illumina datasets, mostly from China, USA (WA State) and Australia (VIC). A total of 30 datasets (60%) contain at least a single founder mutation and most of the variants are missense (over 63%). Five-point mutations with clonal (founder) effect were found in USA next-generation sequencing samples. Sequencing samples from North America in GenBank (22 April 2020) present this signature with up to 39% allele frequencies among samples ( = 1,359). Australian variant signatures were more diverse than USA samples, but still, clonal events were found in these samples. Mutations in the helicase, encoded by the ORF1ab gene in SARS-CoV-2 were predominant, among others, suggesting that these regions are actively evolving. Finally, we firmly urge that primer sets for diagnosis be carefully designed, since rapidly occurring variants would affect the performance of the reverse transcribed quantitative PCR (RT-qPCR) based viral testing.
在此,我们旨在描述来自序列读取存档和GenBank数据库中公开可用的严重急性呼吸综合征冠状病毒2(SARS-CoV-2)序列样本中的早期突变事件。截至2020年3月27日,我们下载了50个Illumina数据集,大部分来自中国、美国(华盛顿州)和澳大利亚(维多利亚州)。共有30个数据集(60%)至少包含一个奠基者突变,且大多数变异为错义突变(超过63%)。在美国的下一代测序样本中发现了具有克隆(奠基者)效应的五个点突变。GenBank中来自北美的测序样本(2020年4月22日)呈现出这种特征,样本中等位基因频率高达39%( = 1359)。澳大利亚的变异特征比美国样本更多样化,但在这些样本中仍发现了克隆事件。SARS-CoV-2中由ORF1ab基因编码的解旋酶中的突变占主导地位,这表明这些区域正在积极进化。最后,我们强烈敦促仔细设计诊断引物组,因为快速出现的变异会影响基于逆转录定量聚合酶链反应(RT-qPCR)的病毒检测性能。