EXPERIMENT_TITLE: GSM2730248: Adult_hic_r1; Homo sapiens; Hi-C
EXPERIMENT_DESIGN_LIBRARY_DESCRIPTOR_LIBRARY_CONSTRUCTION_PROTOC: Sequencing libraries were generated using NEBNext DNA Library Prep Master Mix Set for Illumina Kit (NEB) according to the manufacturer's instructions.
STUDY_DESCRIPTOR_STUDY_ABSTRACT: Chromatin structure is tightly intertwined with transcription regulation. Here we compared the chromosomal architectures of fetal and adult human erythroblasts and find that globally, chromatin structures and compartments A/B are highly similar at both developmental stages. At a finer scale, we detect distinct folding patterns at the developmentally controlled b-globin locus. Specifically, new fetal stage-specific contacts are uncovered between a region separating the fetal (g-) and adult (b-) globin genes (encompassing the HBBP1 and BGLT3 non-coding genes) and two distal chromosomal sites (HS5 and 3''HS1) that flank the locus. In contrast, in adult cells the HBBP1-BGLT3 region contacts the embryonic e-globin gene, physically separating the fetal globin genes from the enhancer (LCR). Removal of the HBBP1 gene strongly reactivates g-globin expression, accompanied by increased LCR-g-globin and decreased BGLT3-e-globin interactions, mimicking the effects of deleting the fetal globin repressor BCL11A. Our results uncover a new critical regulatory region as a potential target for therapeutic genome editing for hemoglobinopathies and highlight the power of chromosome conformation analysis in discovering new cis control elements. Overall design: We compared the chromosomal architectures of fetal and adult human erythroblasts by Hi-C.
SAMPLE_TITLE: Adult_hic_r1
SAMPLE_SAMPLE_ATTRIBUTES_SAMPLE_ATTRIBUTE: [{"TAG": "source_name", "VALUE": "Adult erythroblasts"}, {"TAG": "tissue", "VALUE": "Adult peripheral blood"}, {"TAG": "cell type", "VALUE": "CD34+ derived erythroblasts"}, {"TAG": "differentiate stage", "VALUE": "Day 11"}]
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