- HBE1
Hemoglobin, epsilon 1, also known as HBE1, is a human
gene .PBB_Summary
section_title =
summary_text = The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' [cite web | title = Entrez Gene: HBE1 hemoglobin, epsilon 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3046| accessdate = ]ee also
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hemoglobin
*Human β-globin locus References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Higgs DR, Vickers MA, Wilkie AO, "et al." |title=A review of the molecular genetics of the human alpha-globin gene cluster. |journal=Blood |volume=73 |issue= 5 |pages= 1081–104 |year= 1989 |pmid= 2649166 |doi=
*cite journal | author=Clegg JB |title=Embryonic hemoglobin: sequence of the epsilon and zeta chains. |journal=Tex. Rep. Biol. Med. |volume=40 |issue= |pages= 23–8 |year= 1982 |pmid= 6172865 |doi=
*cite journal | author=Giardina B, Messana I, Scatena R, Castagnola M |title=The multiple functions of hemoglobin. |journal=Crit. Rev. Biochem. Mol. Biol. |volume=30 |issue= 3 |pages= 165–96 |year= 1995 |pmid= 7555018 |doi=
*cite journal | author=Chang JC, Kan YW |title=beta 0 thalassemia, a nonsense mutation in man. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=76 |issue= 6 |pages= 2886–9 |year= 1979 |pmid= 88735 |doi=
*cite journal | author=Proudfoot NJ, Baralle FE |title=Molecular cloning of human epsilon-globin gene. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=76 |issue= 11 |pages= 5435–9 |year= 1980 |pmid= 160554 |doi=
*cite journal | author=Proudfoot NJ, Brownlee GG |title=3' non-coding region sequences in eukaryotic messenger RNA. |journal=Nature |volume=263 |issue= 5574 |pages= 211–4 |year= 1976 |pmid= 822353 |doi=
*cite journal | author=Marotta CA, Forget BG, Cohne-Solal M, "et al." |title=Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA. |journal=J. Biol. Chem. |volume=252 |issue= 14 |pages= 5019–31 |year= 1977 |pmid= 873928 |doi=
*cite journal | author=Gelinas R, Endlich B, Pfeiffer C, "et al." |title=G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin. |journal=Nature |volume=313 |issue= 6000 |pages= 323–5 |year= 1985 |pmid= 2578619 |doi=
*cite journal | author=Collins FS, Metherall JE, Yamakawa M, "et al." |title=A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin. |journal=Nature |volume=313 |issue= 6000 |pages= 325–6 |year= 1985 |pmid= 2578620 |doi=
*cite journal | author=Lang KM, Spritz RA |title=Cloning specific complete polyadenylylated 3'-terminal cDNA segments. |journal=Gene |volume=33 |issue= 2 |pages= 191–6 |year= 1985 |pmid= 2581851 |doi=
*cite journal | author=Ley TJ, Maloney KA, Gordon JI, Schwartz AL |title=Globin gene expression in erythroid human fetal liver cells. |journal=J. Clin. Invest. |volume=83 |issue= 3 |pages= 1032–8 |year= 1989 |pmid= 2921315 |doi=
*cite journal | author=Chabot B, Black DL, LeMaster DM, Steitz JA |title=The 3' splice site of pre-messenger RNA is recognized by a small nuclear ribonucleoprotein. |journal=Science |volume=230 |issue= 4732 |pages= 1344–9 |year= 1986 |pmid= 2933810 |doi=
*cite journal | author=Engelke DR, Hoener PA, Collins FS |title=Direct sequencing of enzymatically amplified human genomic DNA. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 2 |pages= 544–8 |year= 1988 |pmid= 3267215 |doi=
*cite journal | author=Fei YJ, Stoming TA, Efremov GD, "et al." |title=Beta-thalassemia due to a T----A mutation within the ATA box. |journal=Biochem. Biophys. Res. Commun. |volume=153 |issue= 2 |pages= 741–7 |year= 1988 |pmid= 3382401 |doi=
*cite journal | author=Prchal JT, Cashman DP, Kan YW |title=Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=83 |issue= 1 |pages= 24–7 |year= 1986 |pmid= 3455755 |doi=
*cite journal | author=van Santen VL, Spritz RA |title=mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=82 |issue= 9 |pages= 2885–9 |year= 1985 |pmid= 3857622 |doi=
*cite journal | author=Ruskin B, Greene JM, Green MR |title=Cryptic branch point activation allows accurate in vitro splicing of human beta-globin intron mutants. |journal=Cell |volume=41 |issue= 3 |pages= 833–44 |year= 1985 |pmid= 3879973 |doi=
*cite journal | author=Tuan D, Solomon W, Li Q, London IM |title=The "beta-like-globin" gene domain in human erythroid cells. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=82 |issue= 19 |pages= 6384–8 |year= 1985 |pmid= 3879975 |doi=
*cite journal | author=Orkin SH, Antonarakis SE, Kazazian HH |title=Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC. |journal=J. Biol. Chem. |volume=259 |issue= 14 |pages= 8679–81 |year= 1984 |pmid= 6086605 |doi=PBB_Controls
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