Review of ABO Expression and Variations based on Transcriptional Regulation of the ABO Blood Group Gene

Kenichi Ogasawara, R. Sano, Y. Kominato
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Abstract

Background and Summary: We review the transcriptional regulation of ABO expression and discuss variants in the promoter and erythroid cell-specific regulatory region in individuals with weak ABO phenotypes such as Bm, Am, B3, and A3. We also review the molecular mechanisms responsible for variations in ABO expression in development and disease including the cell type-specific expression of ABO during erythroid cell differentiation, and reduction of A- or B-antigens in cancer cells or on red blood cells in patients with leukemia. Although the relationship between ABO blood group antigens and diseases has been characterized, the physiological significance of the ABO blood group system remains unclear. Key Messages: This review discusses accumulated knowledge of the ABO gene regulation and potential reasons for conservation of ABO during evolution.
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基于 ABO 血型基因转录调控的 ABO 表达和变异综述
背景和摘要:我们回顾了 ABO 表达的转录调控,并讨论了 ABO 表型较弱(如 Bm、Am、B3 和 A3)的个体中启动子和红细胞特异性调控区的变异。我们还回顾了在发育和疾病过程中导致 ABO 表达变异的分子机制,包括红细胞分化过程中 ABO 的细胞类型特异性表达,以及白血病患者癌细胞或红细胞中 A 或 B 抗原的减少。虽然 ABO 血型抗原与疾病之间的关系已得到证实,但 ABO 血型系统的生理意义仍不清楚。关键信息:本综述讨论了 ABO 基因调控方面积累的知识以及 ABO 在进化过程中保持不变的潜在原因。
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