Elucidation of the low-expressing erythroid CR1 phenotype by bioinformatic mining of the GATA1-driven blood-group regulome

The study was carried out with bioinformatic analysis of existing ChIP-seq data on GATA1 transcription factors on primary adult erythroid cells. The focus then turn to CR1 where the variation in expression levels on RBCs (red blood cells) were known but not yet resolved. Through identification of GATA1 binding sites, intron 4 of CR1 was identified to be a regulatory region. Further validated with functional assays and cohort study from two different ethnic groups, Swedish and Thai, that the disruption of the binding of GATA1 leads to decrease of gene expression and could be one of the reason that causes the Helgeson phenotype, the very low expression of CR1 on RBCs.