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Gene description: beta-globin 3' hypersensitive site 1
Gene type: biological region
Also known as: HSVI; 3'HS1
This element represents a DNase I hypersensitivity site found approximately 20 kb downstream of the erythrocyte β-globin gene cluster. It has been shown to function as a scaffold attachment region, and it also has enhancer-blocking activity mediated by binding CTCF transcription factors. Chromosome conformation capture assays indicate that it is an integral part of the beta-globin active chromatin hub in erythroid cells, where it undergoes looping interactions with the beta-globin locus control region (LCR) and active beta-globin gene promoters. Mutations in this hypersensitive site may be associated with beta-thalassemia. This hypersensitive locus is located in a region that is deleted in certain beta-thalassemias, including several hereditary fetal hemoglobin (HPFH) deletions.