Skip to main content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Nucleic Acids Res. 1982 Oct 11; 10(19): 5853–5868.
PMCID: PMC320935
PMID: 6292855

Multiple arrangements of the human embryonic zeta globin genes.

Abstract

Rearrangements which are most readily explained by homologous crossover between misaligned segments of DNA in the region of the human embryonic zeta (zeta) globin genes have been identified in individuals of three different racial origins. These recombination events have resulted in a surprisingly high prevalence of chromosomes with single (0.4%) and triplicated (1.3%) zeta genes with apparently no significant effect on the phenotype.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.5M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  • Deisseroth A, Nienhuis A, Turner P, Velez R, Anderson WF, Ruddle F, Lawrence J, Creagan R, Kucherlapati R. Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay. Cell. 1977 Sep;12(1):205–218. [PubMed] [Google Scholar]
  • Lauer J, Shen CK, Maniatis T. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions. Cell. 1980 May;20(1):119–130. [PubMed] [Google Scholar]
  • Michelson AM, Orkin SH. The 3' untranslated regions of the duplicated human alpha-globin genes are unexpectedly divergent. Cell. 1980 Nov;22(2 Pt 2):371–377. [PubMed] [Google Scholar]
  • Liebhaber SA, Goossens M, Kan YW. Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin. Nature. 1981 Mar 5;290(5801):26–29. [PubMed] [Google Scholar]
  • Zimmer EA, Martin SL, Beverley SM, Kan YW, Wilson AC. Rapid duplication and loss of genes coding for the alpha chains of hemoglobin. Proc Natl Acad Sci U S A. 1980 Apr;77(4):2158–2162. [PMC free article] [PubMed] [Google Scholar]
  • Jeffreys AJ, Harris S. Processes of gene duplication. Nature. 1982 Mar 4;296(5852):9–10. [PubMed] [Google Scholar]
  • Orkin SH, Old J, Lazarus H, Altay C, Gurgey A, Weatherall DJ, Nathan DG. The molecular basis of alpha-thalassemias: frequent occurrence of dysfunctional alpha loci among non-Asians with Hb H disease. Cell. 1979 May;17(1):33–42. [PubMed] [Google Scholar]
  • Embury SH, Lebo RV, Dozy AM, Kan YW. Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes. J Clin Invest. 1979 Jun;63(6):1307–1310. [PMC free article] [PubMed] [Google Scholar]
  • Higgs DR, Old JM, Pressley L, Clegg JB, Weatherall DJ. A novel alpha-globin gene arrangement in man. Nature. 1980 Apr 17;284(5757):632–635. [PubMed] [Google Scholar]
  • Goossens M, Dozy AM, Embury SH, Zachariades Z, Hadjiminas MG, Stamatoyannopoulos G, Kan YW. Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A. 1980 Jan;77(1):518–521. [PMC free article] [PubMed] [Google Scholar]
  • Trent RJ, Higgs DR, Clegg JB, Weatherall DJ. A new triplicated alpha-globin gene arrangement in man. Br J Haematol. 1981 Sep;49(1):149–152. [PubMed] [Google Scholar]
  • Lie-Injo LE, Herrera AR, Kan YW. Two types of triplicated alpha-globin loci in humans. Nucleic Acids Res. 1981 Aug 11;9(15):3707–3717. [PMC free article] [PubMed] [Google Scholar]
  • Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. [PubMed] [Google Scholar]
  • Pressley L, Higgs DR, Clegg JB, Weatherall DJ. Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional. Proc Natl Acad Sci U S A. 1980 Jun;77(6):3586–3589. [PMC free article] [PubMed] [Google Scholar]
  • Higgs DR, Goodbourn SE, Wainscoat JS, Clegg JB, Weatherall DJ. Highly variable regions of DNA flank the human alpha globin genes. Nucleic Acids Res. 1981 Sep 11;9(17):4213–4224. [PMC free article] [PubMed] [Google Scholar]
  • Weatherall DJ, Clegg JB. Thalassemia revisited. Cell. 1982 May;29(1):7–9. [PubMed] [Google Scholar]
  • Weatherall DJ, Higgs DR, Bunch C, Old JM, Hunt DM, Pressley L, Clegg JB, Bethlenfalvay NC, Sjolin S, Koler RD, et al. Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med. 1981 Sep 10;305(11):607–612. [PubMed] [Google Scholar]
  • Clegg JB, Gagnon J. Structure of the zeta chain of human embryonic hemoglobin. Proc Natl Acad Sci U S A. 1981 Oct;78(10):6076–6080. [PMC free article] [PubMed] [Google Scholar]
  • Mears JG, Ramirez F, Leibowitz D, Bank A. Organization of human delta--and beta-globin genes in cellular DNA and the presence of intragenic inserts. Cell. 1978 Sep;15(1):15–23. [PubMed] [Google Scholar]
  • Fritsch EF, Lawn RM, Maniatis T. Molecular cloning and characterization of the human beta-like globin gene cluster. Cell. 1980 Apr;19(4):959–972. [PubMed] [Google Scholar]
  • Efstratiadis A, Posakony JW, Maniatis T, Lawn RM, O'Connell C, Spritz RA, DeRiel JK, Forget BG, Weissman SM, Slightom JL, et al. The structure and evolution of the human beta-globin gene family. Cell. 1980 Oct;21(3):653–668. [PubMed] [Google Scholar]
  • Slightom JL, Blechl AE, Smithies O. Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell. 1980 Oct;21(3):627–638. [PubMed] [Google Scholar]
  • Huisman TH, Wrightstone RN, Wilson JB, Schroeder WA, Kendall AG. Hemoglobin Kenya, the product of fusion of amd polypeptide chains. Arch Biochem Biophys. 1972 Dec;153(2):850–853. [PubMed] [Google Scholar]

Articles from Nucleic Acids Research are provided here courtesy of Oxford University Press

-