Mutation of the GATA site in the erythroid cell-specific regulatory element of the ABO gene in a Bm subgroup individual

• Published in: Transfusion (Philadelphia, Pa.) Vol. 53; no. 11pt2; pp. 2917 - 2927
• Main Authors: Nakajima, Tamiko, Sano, Rie, Takahashi, Yoichiro, Kubo, Rieko, Takahashi, Keiko, Kominato, Yoshihiko, Tsukada, Junichi, Takeshita, Haruo, Yasuda, Toshihiro, Uchikawa, Makoto, Isa, Kazumi, Ogasawara, Kenichi
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.11.2013; Wiley Subscription Services, Inc
• Subjects: ABO Blood-Group System - genetics; Base Sequence; Binding Sites - genetics; Cell Lineage - genetics; Cohort Studies; Deoxyribonucleic acid; DNA; Erythroid Cells - metabolism; GATA1 Transcription Factor - metabolism; Gene Expression Regulation - genetics; Genes; Humans; K562 Cells; Molecular Sequence Data; Mutation; Organ Specificity - genetics; Point Mutation; Response Elements - genetics

Background The ABO blood group is important in blood transfusion. Recently, an erythroid cell–specific regulatory element has been identified in the first intron of ABO using luciferase reporter assays with K562 cells. The erythroid cell–specific regulatory activity of the element was dependent upon...