ArticleTransfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie2024
A Bioinformatically Initiated Approach to Evaluate GATA1 Regulatory Regions in Samples with Weak D, Del, or D- Phenotypes Despite Normal
Article in Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Genetic diversity in RHD and RHCE genes among a selected Kenyan blood donor population.Transfusion · 2026Article
- Functional investigation of the RHD gene promoter: Molecular changes are rarely responsible for variant D phenotype in Thai donors.Transfusion · 2026Article
- Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.Blood advances · 2026Article
- AlphaGenome-enabled analysis of non-coding regulatory variants underlyingbioRxiv : the preprint server for biology · 2026Article
- Regulation of Blood Group Expression: Another Layer of Complexity to Consider.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2024Article
- Molecular characterization of variant D antigen expression among 56,445 blood donors in East India.Blood transfusion = Trasfusione del sangueArticle
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Authors and funding
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Abstract
Introduction: With over 360 blood group antigens in systems recognized, there are antigens, such as RhD, which demonstrate a quantitative reduction in antigen expression due to nucleotide variants in the non-coding region of the gene that result in aberrant splicing or a regulatory mechanism. This study aimed to evaluate bioinformatically predicted GATA1-binding regulatory motifs in the Methods: Publicly available open chromatin region data were overlayed with GATA1 motif candidates in Results: Bioinformatic analysis identified five of six GATA1 motif candidates in the promoter, intron 1 and intron 2 for investigation in the samples. Luciferase assays showed an enhancement in transcription for GATA1 motifs in intron 1 and for intron 2 only when the Conclusion: The bioinformatic predictions enabled the identification of a novel
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