Martin Katherine R, Mansfield Katherine L, Savage Anna E
Department of Biology, University of Central Florida, 4110 Libra Drive, Orlando, FL 32816, USA.
R Soc Open Sci. 2022 Feb 9;9(2):211190. doi: 10.1098/rsos.211190. eCollection 2022 Feb.
Characterizing polymorphism at the major histocompatibility complex (MHC) genes is key to understanding the vertebrate immune response to disease. Despite being globally afflicted by the infectious tumour disease fibropapillomatosis (FP), immunogenetic variation in sea turtles is minimally explored. We sequenced the peptide-binding region of MHC class I genes (162 bp) from 268 juvenile green () and 88 loggerhead () sea turtles in Florida, USA. We recovered extensive variation (116 alleles) and trans-species polymorphism. Supertyping analysis uncovered three functional MHC supertypes corresponding to the three well-supported clades in the phylogeny. We found significant evidence of positive selection at seven amino acid sites in the class I exon. Random forest modelling and risk ratio analysis of alleles uncovered one allele weakly associated with smooth FP tumour texture, which may be associated with disease outcome. Our study represents the first characterization of MHC class I diversity in and the largest sample of sea turtles used to date in any study of adaptive genetic variation, revealing tremendous genetic variation and high adaptive potential to viral pathogen threats. The novel associations we identified between MHC diversity and FP outcomes in sea turtles further highlight the importance of evaluating genetic predictors of disease, including MHC and other functional markers.
表征主要组织相容性复合体(MHC)基因的多态性是理解脊椎动物对疾病免疫反应的关键。尽管全球都受到传染性肿瘤疾病纤维乳头瘤病(FP)的困扰,但海龟的免疫遗传变异却鲜有研究。我们对美国佛罗里达州的268只绿海龟幼龟和88只蠵龟的MHC I类基因肽结合区(162 bp)进行了测序。我们发现了广泛的变异(116个等位基因)和跨物种多态性。超型分析揭示了与系统发育中三个得到充分支持的分支相对应的三种功能性MHC超型。我们在I类外显子的七个氨基酸位点发现了正选择的显著证据。对等位基因的随机森林建模和风险比分析发现一个等位基因与光滑的FP肿瘤质地弱相关,这可能与疾病结果有关。我们的研究首次对绿海龟和蠵龟的MHC I类多样性进行了表征,也是迄今为止在任何适应性遗传变异研究中使用的最大海龟样本,揭示了巨大的遗传变异和对病毒病原体威胁的高适应潜力。我们在海龟中发现的MHC多样性与FP结果之间的新关联进一步凸显了评估包括MHC和其他功能标记在内的疾病遗传预测指标的重要性。