β-globin locus

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At the human so-called β-globin locus , a small region on chromosome 11 , there are five very similar genes of the same gene family that code for different variants of a protein that forms half of the subunits in the protein complex of the oxygen-transporting hemoglobin .

The locus contains not only the β-globin genes, but also the delta , gamma-A , gamma-G and epsilon -globin. The expression of all of these genes is controlled by a single locus control region (LCR) and is different during different phases of development.

The order of the genes in the beta-globin cluster is: 5 '- epsilon - gamma-G - gamma-A - delta - beta - 3'.

The arrangement of the genes reflects the temporal differentiation of their expression during development: the gene segment, which is already important in the early embryonic phase, is closest to the LCR.

Individual evidence

  1. Levings PP, Bungert J: The human beta-globin locus control region . In: Eur. J. Biochem. . 269, No. 6, March 2002, pp. 1589-99. doi : 10.1046 / j.1432-1327.2002.02797.x . PMID 11895428 .

literature

  • Frischknecht H, Dutly F: A 65 bp duplication / insertion in exon II of the beta globin gene causing beta0-thalassemia . In: Haematologica . 92, No. 3, March 2007, pp. 423-4. doi : 10.3324 / haematol.10785 . PMID 17339197 .
  • Giardina B, Messana I, Scatena R, Castagnola M: The multiple functions of hemoglobin . In: Crit. Rev. Biochem. Mol. Biol . 30, No. 3, 1995, pp. 165-96. doi : 10.3109 / 10409239509085142 . PMID 7555018 .
  • Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ: A review of the molecular genetics of the human alpha-globin gene cluster . In: Blood . 73, No. 5, April 1, 1989, pp. 1081-104. PMID 2649166 .
  • Salzano AM, Carbone V, Pagano L, Buffardi S, De RC, Pucci P: Hb Vila Real [beta36 (C2) Pro -> His] in Italy: characterization of the amino acid substitution and the DNA mutation . In: Hemoglobin . 26, No. 1, February 2002, pp. 21-31. doi : 10.1081 / HEM-120002937 . PMID 11939509 .