CIRI (Centre International de Recherche en Infectiologie), Univ Lyon, Inserm, U1111, Université Claude Bernard Lyon 1, CNRS, UMR5308, ENS de Lyon, F-69007 Lyon, France.
Laboratoire de Biométrie et Biologie Evolutive, UMR5558, Univ Lyon, Université Lyon 1, F-69622 Villeurbanne, France.
Proc Natl Acad Sci U S A. 2022 Aug 30;119(35):e2206610119. doi: 10.1073/pnas.2206610119. Epub 2022 Aug 10.
The coronavirus disease 19 (COVID-19) pandemic is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a coronavirus that spilled over from the bat reservoir. Despite numerous clinical trials and vaccines, the burden remains immense, and the host determinants of SARS-CoV-2 susceptibility and COVID-19 severity remain largely unknown. Signatures of positive selection detected by comparative functional genetic analyses in primate and bat genomes can uncover important and specific adaptations that occurred at virus-host interfaces. We performed high-throughput evolutionary analyses of 334 SARS-CoV-2-interacting proteins to identify SARS-CoV adaptive loci and uncover functional differences between modern humans, primates, and bats. Using DGINN (Detection of Genetic INNovation), we identified 38 bat and 81 primate proteins with marks of positive selection. Seventeen genes, including the ACE2 receptor, present adaptive marks in both mammalian orders, suggesting common virus-host interfaces and past epidemics of coronaviruses shaping their genomes. Yet, 84 genes presented distinct adaptations in bats and primates. Notably, residues involved in ubiquitination and phosphorylation of the inflammatory RIPK1 have rapidly evolved in bats but not primates, suggesting different inflammation regulation versus humans. Furthermore, we discovered residues with typical virus-host arms race marks in primates, such as in the entry factor TMPRSS2 or the autophagy adaptor FYCO1, pointing to host-specific in vivo interfaces that may be drug targets. Finally, we found that FYCO1 sites under adaptation in primates are those associated with severe COVID-19, supporting their importance in pathogenesis and replication. Overall, we identified adaptations involved in SARS-CoV-2 infection in bats and primates, enlightening modern genetic determinants of virus susceptibility and severity.
新型冠状病毒病(COVID-19)大流行是由严重急性呼吸系统综合征冠状病毒 2(SARS-CoV-2)引起的,这是一种从蝙蝠库溢出的冠状病毒。尽管进行了大量临床试验和疫苗接种,但负担仍然巨大,SARS-CoV-2 易感性和 COVID-19 严重程度的宿主决定因素在很大程度上仍不清楚。通过对灵长类动物和蝙蝠基因组进行比较功能遗传分析检测到的正选择特征,可以揭示病毒-宿主界面发生的重要和特定适应。我们对 334 种 SARS-CoV-2 相互作用蛋白进行了高通量进化分析,以鉴定 SARS-CoV 适应性基因座,并揭示现代人类、灵长类动物和蝙蝠之间的功能差异。使用 DGINN(遗传创新检测),我们鉴定出 38 种蝙蝠和 81 种灵长类动物具有正选择标记的蛋白质。包括 ACE2 受体在内的 17 个基因在两个哺乳动物目中都具有适应性标记,这表明存在共同的病毒-宿主界面和过去冠状病毒的流行,从而塑造了它们的基因组。然而,84 个基因在蝙蝠和灵长类动物中表现出不同的适应性。值得注意的是,涉及炎症 RIPK1 泛素化和磷酸化的残基在蝙蝠中快速进化,但在灵长类动物中没有,这表明与人类相比,蝙蝠具有不同的炎症调节机制。此外,我们在灵长类动物中发现了与病毒-宿主军备竞赛相关的典型标记残基,如进入因子 TMPRSS2 或自噬衔接蛋白 FYCO1,这表明存在可能成为药物靶点的宿主特异性体内界面。最后,我们发现 FYCO1 在灵长类动物中适应性进化的位点与严重 COVID-19 相关,支持其在发病机制和复制中的重要性。总的来说,我们鉴定了蝙蝠和灵长类动物中与 SARS-CoV-2 感染相关的适应,阐明了病毒易感性和严重程度的现代遗传决定因素。