Human β-globin locus

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The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Hemoglobin. This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin. Expression of all of these genes is controlled by single locus control region (LCR), and the genes are differentially expressed throughout development.[1]

The order of the genes in the beta-globin cluster is: 5' - epsilongamma-Ggamma-Adeltabeta - 3'.

The arrangement of the genes directly reflects the temporal differentiation of their expression during development, with the early-embryonic stage version of the gene located closest to the LCR. If the genes are rearranged, the gene products are expressed at improper stages of development.

Expression of these genes is regulated in embryonic erythropoiesis by many transcription factors, including KLF1,[2] which is associated with the upregulation of adult haemoglobin in adult definitive erythrocytes, and KLF2,[3] which is vital to the expression of embryonic hemoglobin.


  1. ^ Levings PP, Bungert J (March 2002). "The human beta-globin locus control region". Eur. J. Biochem. 269 (6): 1589–99. doi:10.1046/j.1432-1327.2002.02797.x. PMID 11895428. 
  2. ^ Hodge D, Coghill E, Keys J, Maguire T, Hartmann B, McDowall A, Weiss M, Grimmond S, Perkins A (April 2006). "A global role for EKLF in definitive and primitive erythropoiesis". Blood 107 (8): 3359–70. doi:10.1182/blood-2005-07-2888. PMC 1895762. PMID 16380451. 
  3. ^ Basu P, Morris PE, Haar JL, Wani MA, Lingrel JB, Gaensler KML & Lloyd JA (2005). "Klf2 is essential for primitive erythropoiesis and regulates the human and murine embryonic β-like globin genes in vivo". Blood 106 (7): 2566–2571. doi:10.1182/blood-2005-02-0674. PMC 1895257. PMID 15947087. 

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