Department of Biochemistry, Genetics and Immunology, University of Vigo, Vigo, Spain; Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.
Laboratory of Molecular Virology, Oswaldo Cruz Institute, FIOCRUZ, Rio de Janeiro, Brazil.
Infect Genet Evol. 2018 Sep;63:295-306. doi: 10.1016/j.meegid.2017.09.029. Epub 2017 Sep 22.
Mutation and recombination drive the evolution of most pathogens by generating the genetic variants upon which selection operates. Those variants can, for example, confer resistance to host immune systems and drug therapies or lead to epidemic outbreaks. Given their importance, diverse evolutionary studies have investigated the abundance and consequences of mutation and recombination in pathogen populations. However, some controversies persist regarding the contribution of each evolutionary force to the development of particular phenotypic observations (e.g., drug resistance). In this study, we revise the importance of mutation and recombination in the evolution of pathogens at both intra-host and inter-host levels. We also describe state-of-the-art analytical methodologies to detect and quantify these two evolutionary forces, including biases that are often ignored in evolutionary studies. Finally, we present some of our former studies involving pathogenic taxa where mutation and recombination played crucial roles in the recovery of pathogenic fitness, the generation of interspecific genetic diversity, or the design of centralized vaccines. This review also illustrates several common controversies and pitfalls in the analysis and in the evaluation and interpretation of mutation and recombination outcomes.
突变和重组通过产生选择作用的遗传变异来驱动大多数病原体的进化。例如，这些变异可以赋予宿主免疫系统和药物治疗的抗性，或导致流行病爆发。鉴于它们的重要性，各种进化研究已经调查了病原体群体中突变和重组的丰度和后果。然而，对于每种进化力量对特定表型观察（例如，药物抗性）的发展的贡献，仍然存在一些争议。在这项研究中，我们在宿主内和宿主间水平上重新评估了突变和重组在病原体进化中的重要性。我们还描述了用于检测和量化这两种进化力量的最新分析方法，包括在进化研究中经常被忽略的偏差。最后，我们介绍了我们以前的一些涉及病原体类群的研究，其中突变和重组在恢复病原体适应性、产生种间遗传多样性或设计集中疫苗方面发挥了关键作用。本综述还说明了在分析以及评估和解释突变和重组结果时的一些常见争议和陷阱。
