Arend Peter
Philipps University Marburg, Department of Medicine, D-355, Marburg, Lahn, Germany; Gastroenterology Research Laboratory, University of Iowa, College of Medicine, Iowa City, IA, USA; Research Laboratories, Chemie Grünenthal GmbH, D-52062 Aachen, Germany.
Immunobiology. 2018 Nov;223(11):684-693. doi: 10.1016/j.imbio.2018.07.015. Epub 2018 Jul 21.
The metabolic relationship between the formation of the ABO(H) blood group phenotype and human fertility is evident in the case of the (Oh) or Bombay blood type, which Charles Darwin would have interpreted as resulting from reduced male fertility in consanguinities, based on the history of his own family, the Darwin/Wedgwood Dynasty. The classic Bombay type occurs with the extremely rare, human-specific genotype (h/h; se/se), which (due to point mutations) does not encode fucosyltransferases 1(FUT1) and 2 (FUT2). These enzymes are the basis for ABO(H) phenotype formation on the cell surfaces and fucosylation of plasma proteins, involving neonatal immunoglobulin M (IgM). In the normal human blood group O(H), which is not protected by clonal selection with regard to environmental A/B immunization, the plasma contains a mixture of non-immune and adaptive anti-A/B reactive isoagglutinins, which in the O(h) Bombay type show extremely elevated levels, associated with decreased levels of fucosylation-dependent functional plasma proteins, suchs as the van Willebrand factor (vWF) and clotting factor VIII. In fact, while the involvement of adaptive immunoglobulins remains unknown, poor fucosylation may explain the polyreactivity in the Bombay type plasma, which exhibits pronounced complement-binding cross-reactive anti-A/Tn and anti-B IgM levels, with additional anti-H reactivity, acting over a wide range of temperatures, with an amplitude at 37 °C. This aggressive anti-glycan-reactive IgM molecule suggests the induction of ADCC (antibody-dependent) and/or complement-mediated cytotoxicity via overexpressed glycosidic bond sites against the embryogenic stem cell-to-germ cell transformation, which is characterized by fleeting appearances of A-like, developmental trans-species GalNAcα1-O-Ser/Thr-R glycan, also referred to as the Tn (T "nouvelle") antigen.
ABO(H)血型表型的形成与人类生育能力之间的代谢关系在(Oh)或孟买血型的情况下很明显,查尔斯·达尔文基于他自己家族(达尔文/韦奇伍德王朝)的历史,会将其解释为近亲繁殖中男性生育能力下降的结果。典型的孟买血型与极其罕见的人类特异性基因型(h/h;se/se)有关,该基因型(由于点突变)不编码岩藻糖基转移酶1(FUT1)和2(FUT2)。这些酶是细胞表面ABO(H)表型形成以及血浆蛋白岩藻糖基化的基础,涉及新生儿免疫球蛋白M(IgM)。在正常的人类O(H)血型中,对于环境A/B免疫没有受到克隆选择的保护,血浆中含有非免疫性和适应性抗A/B反应性同种凝集素的混合物,而在O(h)孟买血型中,这些同种凝集素水平极高,同时岩藻糖基化依赖性功能性血浆蛋白水平降低,如血管性血友病因子(vWF)和凝血因子VIII。事实上,虽然适应性免疫球蛋白的参与情况尚不清楚,但岩藻糖基化不足可能解释了孟买血型血浆中的多反应性,其表现出明显的补体结合交叉反应性抗A/Tn和抗B IgM水平,以及额外的抗H反应性,在很宽的温度范围内起作用,在37°C时具有一定幅度。这种具有攻击性的抗聚糖反应性IgM分子表明,通过针对胚胎干细胞向生殖细胞转化过程中过度表达的糖苷键位点诱导抗体依赖性细胞介导的细胞毒性(ADCC)和/或补体介导的细胞毒性,该过程的特征是短暂出现类似A的、发育性跨物种的GalNAcα1-O-Ser/Thr-R聚糖,也称为Tn(T“新”)抗原。