ε-globin

from Wikipedia, the free encyclopedia
Ε-globin
Ε-globin
Structure of ε-globin in the homotetramer
Cofactor Hamm
Identifier
Gene name (s) HBE; HBE1
External IDs

ε-globin , epsilon-globin , or hemoglobin epsilon chain is a protein from the globins family , the 147 amino acid long polypeptide chain of which binds a heme as a cofactor and is part of the protein complex of embryonic hemoglobins - in Hb Gower-12 ε 2 ) and in Hb Gower-22 ε 2 ) -, the hemoglobin subunit epsilon ( HBE or HBE1 ).

The ε-globin is a component of hemoglobin variants that are formed in the embryonic period for the transport of oxygen . When people it is from HBB - gene encodes the gene cluster of the β-globin locus ( 5 '- hbe1 - hbg2 - hbg1 - HBD - HBB -3' ) on chromosome 11 is located. The expression of these very similar genes is regulated here via a common control region and is different depending on development. Depending on the development phase or cell environment, protein biosynthesis can be initiated by the corresponding ε, γ , δ or β globins . These proteins differ from one another only in a few amino acids of their 147 AA long chain; however, the hemoglobins made up of them show differences in oxygen - binding capacity .

function

In human embryogenesis , the gene for epsilon globin (HBE) is activated first. As early as the third week of development, cells in the blood islands of the yolk sac or umbilical cord vesicle, which are still extra- embryonic, form the first (embryonic) hemoglobins . These protein complexes are composed of four heme-binding globin subunits that are similar in pairs. In the case of embryonic hemoglobin “Hb Gower I”, the two pairs consist of an epsilon chain and a zeta chain - ζ 2 ε 2 ); with "Hb Gower II" it is epsilon chains and alpha chains - α 2 ε 2 . Both of these embryonic hemoglobins are later normally displaced by fetal hemoglobin (HbF - α 2 γ 2 ) and then by adult hemoglobins (HbA (1) - α 2 β 2 ; HbA 2 - α 2 δ 2 ).

Individual evidence

  1. Entrez Gene: HBE1 hemoglobin, epsilon 1 . Retrieved May 19, 2012.
  2. 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, May 1989, pp. 1081-104. PMID 2649166 .

literature

  • Clegg JB: Embryonic hemoglobin: sequence of the epsilon and zeta chains. . In: Tex. Rep. Biol. Med. . 40, 1982, pp. 23-8. PMID 6172865 .
  • 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 .
  • Chang JC, Kan YW: beta 0 thalassemia, a nonsense mutation in man. . In: Proc. Natl. Acad. Sci. USA . 76, No. 6, 1979, pp. 2886-9. doi : 10.1073 / pnas.76.6.2886 . PMID 88735 . PMC 383714 (free full text).
  • Proudfoot NJ, Baralle FE: Molecular cloning of human epsilon-globin gene. . In: Proc. Natl. Acad. Sci. USA . 76, No. 11, 1980, pp. 5435-9. doi : 10.1073 / pnas.76.11.5435 . PMID 160554 . PMC 411663 (free full text).
  • Proudfoot NJ, Brownlee GG: 3 'non-coding region sequences in eukaryotic messenger RNA. . In: Nature . 263, No. 5574, 1976, pp. 211-4. doi : 10.1038 / 263211a0 . PMID 822353 .
  • Marotta CA, Forget BG, Cohne-Solal M, et al. : Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA. . In: J. Biol. Chem. . 252, No. 14, 1977, pp. 5019-31. PMID 873928 .
  • Gelinas R, Finally B, Pfeiffer C, et al. : G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal hemoglobin. . In: Nature . 313, No. 6000, 1985, pp. 323-5. doi : 10.1038 / 313323a0 . PMID 2578619 .
  • Collins FS, Metherall JE, Yamakawa M, et al. : A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal hemoglobin. . In: Nature . 313, No. 6000, 1985, pp. 325-6. doi : 10.1038 / 313325a0 . PMID 2578620 .
  • Lang KM, Spritz RA: Cloning specific complete polyadenylylated 3'-terminal cDNA segments. . In: Genes . 33, No. 2, 1985, pp. 191-6. doi : 10.1016 / 0378-1119 (85) 90093-9 . PMID 2581851 .
  • Ley TJ, Maloney KA, Gordon JI, Schwartz AL: Globin gene expression in erythroid human fetal liver cells. . In: J. Clin. Invest. . 83, No. 3, 1989, pp. 1032-8. doi : 10.1172 / JCI113944 . PMID 2921315 . PMC 303780 (free full text).
  • Chabot B, Black DL, LeMaster DM, Steitz JA: The 3 'splice site of pre-messenger RNA is recognized by a small nuclear ribonucleoprotein. . In: Science . 230, No. 4732, 1986, pp. 1344-9. doi : 10.1126 / science.2933810 . PMID 2933810 .
  • Engelke DR, Hoener PA, Collins FS: Direct sequencing of enzymatically amplified human genomic DNA. . In: Proc. Natl. Acad. Sci. USA . 85, No. 2, 1988, pp. 544-8. doi : 10.1073 / pnas.85.2.544 . PMID 3267215 . PMC 279587 (free full text).
  • Fei YJ, Stoming TA, Efremov GD, et al. : Beta-thalassemia due to a T ---- A mutation within the ATA box. . In: Biochem. Biophys. Res. Commun. . 153, No. 2, 1988, pp. 741-7. doi : 10.1016 / S0006-291X (88) 81157-4 . PMID 3382401 .
  • Prchal JT, Cashman DP, Kan YW: Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine. . In: Proc. Natl. Acad. Sci. USA . 83, No. 1, 1986, pp. 24-7. doi : 10.1073 / pnas.83.1.24 . PMID 3455755 . PMC 322783 (free full text).
  • van Santen VL, Spritz RA: mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence. . In: Proc. Natl. Acad. Sci. USA . 82, No. 9, 1985, pp. 2885-9. doi : 10.1073 / pnas.82.9.2885 . PMID 3857622 . PMC 397671 (free full text).
  • Ruskin B, Greene JM, Green MR: Cryptic branch point activation allows accurate in vitro splicing of human beta-globin intron mutants. . In: Cell . 41, No. 3, 1985, pp. 833-44. doi : 10.1016 / S0092-8674 (85) 80064-7 . PMID 3879973 .
  • Tuan D, Solomon W, Li Q, London IM: The “beta-like-globin” gene domain in human erythroid cells. . In: Proc. Natl. Acad. Sci. USA . 82, No. 19, 1985, pp. 6384-8. doi : 10.1073 / pnas.82.19.6384 . PMID 3879975 . PMC 390720 (free full text).
  • Orkin SH, Antonarakis SE, Kazazian HH: Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of the distal promoter element ACACCC. . In: J. Biol. Chem. . 259, No. 14, 1984, pp. 8679-81. PMID 6086605 .