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Article

Expression of ABO blood-group genes is dependent upon an erythroid cell-specific regulatory element that is deleted in persons with the B(m) phenotype.

Blood - 31 May 2012

Sano Rie, Nakajima Tamiko, Takahashi Keiko, Kubo Rieko, Kominato Yoshihiko, Tsukada Junichi, Takeshita Haruo, Yasuda Toshihiro, Ito Kazuto, Maruhashi Takayuki, Yokohama Akihiko, Isa Kazumi, Ogasawara Kenichi, Uchikawa Makoto

Abstract excerpt

The ABO blood group is of great importance in blood transfusion and organ transplantation. However, the mechanisms regulating human ABO gene expression remain obscure. On the basis of DNase I-hypersensitive sites in and upstream of ABO in K562 cells, in the present study, we prepared reporter plasmid constructs including these sites. Subsequent luciferase assays indicated a novel positive regulatory element in...

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Identifiers

PMID: 22408256
DOI: 10.1182/blood-2011-10-387167

Genes

ABO

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Expression of ABO blood-group genes is dependent upon an erythroid cell-specific regulatory element that is deleted in persons with the B(m) phenotype.PMID 22408256Read ↗

Blood group B gene is barely expressed in in vitro erythroid culture of Bm-derived CD34+ cells without an erythroid cell-specific regulatory element.Semantic proximity Read ↗

Presence of nucleotide substitutions in transcriptional regulatory elements such as the erythroid cell-specific enhancer-like element and the ABO promoter in individuals with phenotypes A3 and B3, respectively.Semantic proximity Read ↗

Deletion of the RUNX1 binding site in the erythroid cell-specific regulatory element of the ABO gene in two individuals with the Am phenotype.Semantic proximity Read ↗

A novel mutation of the GATA site in the erythroid cell-specific regulatory element of the ABO gene in a blood donor with the Am B phenotype.Semantic proximity Read ↗

Review of <i>ABO</i> Expression and Variations based on Transcriptional Regulation of the ABO Blood Group GeneSemantic proximity Read ↗

Characterization of the human ABO gene promoter in erythroid cell lineage.Semantic proximity Read ↗

A 3.0-kb deletion including an erythroid cell-specific regulatory element in intron 1 of the ABO blood group gene in an individual with the Bm phenotype.Semantic proximity Read ↗

Alternative Promoter Identified between a Hypermethylated Upstream Region of Repetitive Elements and a CpG Island in Human ABO Histo-blood Group GenesSemantic proximity Read ↗

ABO alleles are linked with haplotypes of an erythroid cell-specific regulatory element in intron 1 with a few exceptions attributable to genetic recombination.Semantic proximity Read ↗

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The B allele with a 5·8 kb deletion in intron 1 of the ABO gene is the major allele in Japanese individuals with Bm and A1 Bm phenotypes.Semantic proximity Read ↗

Human ABO gene transcriptional regulationSemantic proximity Read ↗

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