Holland Mische, Rutkowski Rachel, C Levin Tera
Department of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Mol Biol Evol. 2024 Dec 6;41(12). doi: 10.1093/molbev/msae220.
Caspase-1 and related proteases are key players in inflammation and innate immunity. Here, we characterize the evolutionary history of caspase-1 and its close relatives across 19 primates and 21 rodents, focusing on differences that may cause discrepancies between humans and animal studies. While caspase-1 has been retained in all these taxa, other members of the caspase-1 subfamily (caspase-4, caspase-5, caspase-11, and caspase-12 and CARD16, 17, and 18) each have unique evolutionary trajectories. Caspase-4 is found across simian primates, whereas we identified multiple pseudogenization and gene loss events in caspase-5, caspase-11, and the CARDs. Because caspase-4 and caspase-11 are both key players in the noncanonical inflammasome pathway, we expected that these proteins would be likely to evolve rapidly. Instead, we found that these two proteins are largely conserved, whereas caspase-4's close paralog, caspase-5, showed significant indications of positive selection, as did primate caspase-1. Caspase-12 is a nonfunctional pseudogene in humans. We find this extends across most primates, although many rodents and some primates retain an intact, and likely functional, caspase-12. In mouse laboratory lines, we found that 50% of common strains carry nonsynonymous variants that may impact the functions of caspase-11 and caspase-12 and therefore recommend specific strains to be used (and avoided). Finally, unlike rodents, primate caspases have undergone repeated rounds of gene conversion, duplication, and loss leading to a highly dynamic proinflammatory caspase repertoire. Thus, we uncovered many differences in the evolution of primate and rodent proinflammatory caspases and discuss the potential implications of this history for caspase gene functions.
半胱天冬酶 -1及相关蛋白酶是炎症和先天免疫的关键参与者。在此,我们描绘了半胱天冬酶 -1及其在19种灵长类动物和21种啮齿动物中的近亲的进化史,重点关注可能导致人类研究与动物研究结果出现差异的不同之处。虽然半胱天冬酶 -1在所有这些分类群中都得以保留,但半胱天冬酶 -1亚家族的其他成员(半胱天冬酶 -4、半胱天冬酶 -5、半胱天冬酶 -11、半胱天冬酶 -12以及含半胱氨酸的天冬氨酸蛋白水解酶募集结构域蛋白16、17和18)各自都有独特的进化轨迹。半胱天冬酶 -4在猿猴灵长类动物中均有发现,而我们在半胱天冬酶 -5、半胱天冬酶 -11以及含半胱氨酸的天冬氨酸蛋白水解酶募集结构域蛋白中鉴定出多个假基因化和基因丢失事件。由于半胱天冬酶 -4和半胱天冬酶 -11都是非经典炎性小体途径的关键参与者,我们预计这些蛋白质可能会快速进化。然而,我们发现这两种蛋白质在很大程度上是保守的,而半胱天冬酶 -4的紧密旁系同源物半胱天冬酶 -5以及灵长类动物的半胱天冬酶 -1均显示出正选择的显著迹象。半胱天冬酶 -12在人类中是一个无功能的假基因。我们发现这种情况在大多数灵长类动物中都存在,尽管许多啮齿动物和一些灵长类动物保留了完整且可能有功能的半胱天冬酶 -12。在小鼠实验品系中,我们发现50%的常见品系携带可能影响半胱天冬酶 -11和半胱天冬酶 -12功能的非同义变体,因此推荐使用(以及避免使用)特定品系。最后,与啮齿动物不同,灵长类动物的半胱天冬酶经历了多轮基因转换、复制和丢失,导致促炎半胱天冬酶库高度动态化。因此,我们揭示了灵长类动物和啮齿动物促炎半胱天冬酶进化中的许多差异,并讨论了这段历史对半胱天冬酶基因功能的潜在影响。