Article
Deletion of the RUNX1 binding site in the erythroid cell-specific regulatory element of the ABO gene in two individuals with the Am phenotype.
Vox sanguinis - 1 Feb 2014
Takahashi Y, Isa K, Sano R, Nakajima T, Kubo R, Takahashi K, Kominato Y, Tsuneyama H, Ogasawara K, Uchikawa M
Abstract excerpt
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. Subsequent studies revealed that either a 5·8-kb deletion including the +5·8-kb site or disruption of a GATA factor binding motif at the site was present in all Bm and ABm individuals examined. We investigated the molecular mechanism...
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