A novel mutation+ 5904 C> T of RUNX1 site in the erythroid cell‐specific regulatory element decreases the ABO antigen expression in Chinese population

Y Ying, X Hong, X Xu, K Ma, J He, F Zhu - Vox Sanguinis, 2018 - Wiley Online Library
Background An erythroid cell‐specific regulatory element (+ 5· 8‐kb) in the first intron of ABO
is responsible for the antigen differential expression and the regulatory activity of the …

Deletion of the RUNX1 binding site in the erythroid cell‐specific regulatory element of the ABO gene in two individuals with the Am phenotype

Y Takahashi, K Isa, R Sano, T Nakajima… - Vox …, 2014 - Wiley Online Library
Background and Objectives An erythroid cell‐specific regulatory element, referred to as the+
5· 8‐kb site, had been identified in the first intron of the human ABO blood group gene …

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 A …

Y Takahashi, K Isa, R Sano, T Nakajima… - Vox …, 2014 - Wiley Online Library
Background and objectives An erythroid cell‐specific regulatory element, referred to as the+
5.8‐kb site, has been identified in the first intron of the human ABO blood group gene …

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

T Nakajima, R Sano, Y Takahashi, R Kubo… - …, 2013 - Wiley Online Library
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 …

Blood group B gene is barely expressed in in vitro erythroid culture of Bm‐derived CD34+ cells without an erythroid cell‐specific regulatory element

R Sano, M Nogawa, T Nakajima, Y Takahashi… - Vox …, 2015 - Wiley Online Library
Background and Objectives Previously, a weak phenotype Am or Bm was assumed to be
caused by a reduction of A or B gene expression in bone marrow cells, but not in mucus …

A novel mutation of the GATA site in the erythroid cell‐specific regulatory element of the ABO gene in a blood donor with the AmB phenotype

A Oda, K Isa, K Ogasawara, K Kameyama… - Vox …, 2015 - Wiley Online Library
The Am and Bm phenotypes are characterized by weak expression of the A or B antigens,
respectively, by red blood cells with a normal expression by the saliva of secretors. Deletion …

Expression of ABO blood-group genes is dependent upon an erythroid cell–specific regulatory element that is deleted in persons with the Bm phenotype

R Sano, T Nakajima, K Takahashi… - Blood, The Journal …, 2012 - ashpublications.org
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 …

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

R Sano, E Kuboya, T Nakajima, Y Takahashi… - Vox …, 2015 - Wiley Online Library
We developed a sequence‐specific primer PCR (SSP‐PCR) for detection of a 5· 8‐kb
deletion (Bm5· 8) involving an erythroid cell‐specific regulatory element in intron 1 of the …

ABO alleles are linked with haplotypes of an erythroid cell‐specific regulatory element in intron 1 with a few exceptions attributable to genetic recombination

T Nakajima, R Sano, Y Takahashi, K Watanabe… - Vox …, 2016 - Wiley Online Library
Recent investigation of transcriptional regulation of the ABO genes has identified a
candidate erythroid cell‐specific regulatory element, named the+ 5· 8‐kb site, in the first …

[HTML][HTML] Review of ABO expression and variations based on transcriptional regulation of the ABO blood group gene

K Ogasawara, R Sano, Y Kominato - Transfusion Medicine and …, 2024 - karger.com
Abstract Background and Summary: We review the transcriptional regulation of ABO
expression and discuss variants in the promoter and erythroid cell-specific regulatory region …