Aix Marseille Univ, CNRS, EFS, ADES, UMR 7268, Marseille, France.
Department of Genetics, Evolution and Environment, and UCL Genetics Institute, University College London, London, United Kingdom.
PLoS One. 2021 Jul 28;16(7):e0254175. doi: 10.1371/journal.pone.0254175. eCollection 2021.
Blood group systems were the first phenotypic markers used in anthropology to decipher the origin of populations, their migratory movements, and their admixture. The recent emergence of new technologies based on the decoding of nucleic acids from an individual's entire genome has relegated them to their primary application, blood transfusion. Thus, despite the finer mapping of the modern human genome in relation to Neanderthal and Denisova populations, little is known about red cell blood groups in these archaic populations. Here we analyze the available high-quality sequences of three Neanderthals and one Denisovan individuals for 7 blood group systems that are used today in transfusion (ABO including H/Se, Rh (Rhesus), Kell, Duffy, Kidd, MNS, Diego). We show that Neanderthal and Denisova were polymorphic for ABO and shared blood group alleles recurrent in modern Sub-Saharan populations. Furthermore, we found ABO-related alleles currently preventing from viral gut infection and Neanderthal RHD and RHCE alleles nowadays associated with a high risk of hemolytic disease of the fetus and newborn. Such a common blood group pattern across time and space is coherent with a Neanderthal population of low genetic diversity exposed to low reproductive success and with their inevitable demise. Lastly, we connect a Neanderthal RHD allele to two present-day Aboriginal Australian and Papuan, suggesting that a segment of archaic genome was introgressed in this gene in non-Eurasian populations. While contributing to both the origin and late evolutionary history of Neanderthal and Denisova, our results further illustrate that blood group systems are a relevant piece of the puzzle helping to decipher it.
血型系统是人类学中最早用于解码人群起源、迁徙和混合的表型标志物。最近,基于个体全基因组核酸解码的新技术的出现,已经将它们的应用局限于输血。因此,尽管现代人类基因组与尼安德特人和丹尼索瓦人之间的关系得到了更精细的映射,但关于这些古老人群的红细胞血型系统知之甚少。在这里,我们分析了三个尼安德特人和一个丹尼索瓦人个体的可用高质量序列,这些个体涉及当今输血中使用的 7 个血型系统(ABO 包括 H/Se、Rh(恒河猴)、Kell、Duffy、Kidd、MNS、Diego)。我们表明,尼安德特人和丹尼索瓦人在 ABO 上是多态的,并且共享在现代撒哈拉以南人群中反复出现的血型等位基因。此外,我们发现 ABO 相关等位基因目前可以预防病毒肠道感染,而尼安德特人 RHD 和 RHCE 等位基因现在与胎儿和新生儿溶血性疾病的高风险相关。这种跨越时间和空间的共同血型模式与遗传多样性低、生殖成功率低且不可避免灭绝的尼安德特人群是一致的。最后,我们将一个尼安德特人 RHD 等位基因与两个现代澳大利亚原住民和巴布亚人的联系起来,表明古老基因组的一个片段在非欧亚人群中被引入了这个基因。虽然我们的研究结果有助于进一步阐明血型系统是帮助解码尼安德特人和丹尼索瓦人起源和晚期进化历史的一个相关部分,但它们也为这些古老人群的基因流动提供了证据。