ポピュラーベクター Human HBB-LCR

遺伝子情報

  • 遺伝子記号 HBB-LCR
  • 生物種 Human (Homo sapiens)
  • 正式名称 -
  • 通称 LCR-beta; LCRB; beta-DCR; beta-LAR
  • 他名称 beta Glb-LCR; beta-globin 5' regulatory region; beta-globin LCR; beta-globin dominant control region; beta-globin locus activation region; beta-globin locus-activating region; locus control region, beta
  • 遺伝子の種類 biological-region
  • 要約
    This genomic sequence, which spans 34 kb upstream of the hemoglobin subunit epsilon 1 (HBE1) gene, represents the 5\' regulatory region of the human beta-globin gene cluster on chromosome 11. It includes a locus control region (LCR), which can confer developmentally regulated, position-independent and copy number-dependent expression on linked beta-globin genes in transgenic mice. The LCR is the major element controlling expression of the downstream beta-globin genes (epsilon, G-gamma, A-gamma, delta and beta, or HBE1, HBG2, HBG1, HBD and HBB, respectively), which are organized on the chromosome in their order of developmental expression. This region includes several DNase I hypersensitive sites (HSs; 5\'HS1-5\'HS7 in the entire region, 5\'HS1-5\'HS5 in the LCR), some of which possess enhancer activity in erythroid cells and/or function in synergy (e.g., the 5\'HS2 and 5\'HS3 enhancers). The HSs bind to erythroid transcription factors and are associated with regulatory complexes involved in beta-globin gene expression and the organization of local chromatin domain structure. This region also includes matrix attachment regions (MARs), silencers, an enhancer-blocking element (at 5\'HS5), a DNA-RNA triplex-forming region (at 5\'HS2) that reduces beta-globin gene expression, and a retroviral element (ERV-9) with enhancer activity in erythrocytes. Chromosome conformation capture assays show that the LCR is an integral part of the beta-globin active chromatin hub in erythroid cells, where it undergoes looping interactions with distal 5\' and 3\' HSs (HS-111 and 3\'HS1) and the active beta-globin gene promoters. A larger region that includes 5\'HS2-5\'HS5 of the LCR plus an additional 27 kb may regulate replication initiation at a replication origin (IR) in the vicinity of the adult beta-globin (HBB) gene. Mutations in this LCR result in beta-thalassemias and beta-hemoglobinopathies. A large naturally-occurring deletion, which includes the sequence spanning 5\'HS2-5\'HS7, results in Hispanic gamma-delta-beta thalassemia and a closed chromatin conformation across the beta-globin locus. [provided by RefSeq, Dec 2019]
  • NCBI Gene ID 109580095
  • 外部リンク NCBI  | OMIMUCSC Genome Browser View
No vectors are found in our database for this gene. We may introduce vectors for this gene in the future.

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