Vectors for Human HBB-3'HS1

This element represents a DNase I hypersensitive site that is found approximately 20 kb downstream of the beta-globin gene cluster in erythroid cells. It has been shown to function as a scaffold attachment region, and it also has enhancer-blocking activity that is mediated by binding of the CTCF transcription factor. 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. A mutation in this hypersensitive site may be associated with beta-thalassemia intermedia. This hypersensitive site is located in a region that is deleted in some beta-thalassemias, including several hereditary persistence of fetal hemoglobin (HPFH) deletions. [provided by RefSeq, Jul 2015]