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. 1983 Nov 25;11(22):8087–8101. doi: 10.1093/nar/11.22.8087

Intergenic DNA sequences flanking the pseudo alpha globin genes of human and chimpanzee.

I Sawada, M P Beal, C K Shen, B Chapman, A C Wilson, C Schmid
PMCID: PMC326562  PMID: 6316284

Abstract

We have determined the sequence of 2400 base pairs upstream from the human pseudo alpha globin (psi alpha) gene, and for comparison, 1100 base pairs of DNA within and upstream from the chimpanzee psi alpha gene. The region upstream from the promoter of the psi alpha gene shows no significant homology to the intergenic regions of the adult alpha 2 and alpha 1 globin genes. The chimpanzee gene has a coding defect in common with the human psi alpha gene, showing that the product of this gene, if any, was inactivated before the divergence of human and chimpanzee. However the chimpanzee gene contains a normal ATG initiation codon in contrast to the human gene which has GTG as the initiation codon. The psi alpha genes of both human and chimpanzee are flanked by the same Alu family member. The structure and position of this repeat have not been altered since the divergence of human and chimpanzee, and it is at least as well conserved as its immediate flanking sequence. Comparing human and chimpanzee, the 300 bp Alu repeat has accumulated only two base substitutions and one length mutation; the adjacent 300 bp flanking region has accumulated five base substitutions and twelve length mutations.

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Selected References

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

  1. Bell G. I., Selby M. J., Rutter W. J. The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences. Nature. 1982 Jan 7;295(5844):31–35. doi: 10.1038/295031a0. [DOI] [PubMed] [Google Scholar]
  2. Boyer S. H., Noyes A. N., Boyer M. L., Marr K. Hemoglobin 3 chains in apes. Primary structures and the presumptive nature of back mutation in a normally silent gene. J Biol Chem. 1973 Feb 10;248(3):992–1003. [PubMed] [Google Scholar]
  3. Cann R. L., Wilson A. C. Length mutations in human mitochondrial DNA. Genetics. 1983 Aug;104(4):699–711. doi: 10.1093/genetics/104.4.699. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Deininger P. L., Schmid C. W. A study of the evolution of repeated DNA sequences in primates and the existence of a new class of repetitive sequences in primates. J Mol Biol. 1979 Feb 5;127(4):437–460. doi: 10.1016/0022-2836(79)90231-6. [DOI] [PubMed] [Google Scholar]
  5. Deininger P. L., Schmid C. W. Thermal stability of human DNA and chimpanzee DNA heteroduplexes. Science. 1976 Nov 19;194(4267):846–848. doi: 10.1126/science.982047. [DOI] [PubMed] [Google Scholar]
  6. Dhruva B. R., Shenk T., Subramanian K. N. Integration in vivo into simian virus 40 DNA of a sequence that resembles a certain family of genomic interspersed repeated sequences. Proc Natl Acad Sci U S A. 1980 Aug;77(8):4514–4518. doi: 10.1073/pnas.77.8.4514. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Emery H. S., Weiner A. M. An irregular satellite sequence is found at the termini of the linear extrachromosomal rDNA in Dictyostelium discoideum. Cell. 1981 Nov;26(3 Pt 1):411–419. doi: 10.1016/0092-8674(81)90210-5. [DOI] [PubMed] [Google Scholar]
  8. Grimaldi G., Singer M. F. A monkey Alu sequence is flanked by 13-base pair direct repeats by an interrupted alpha-satellite DNA sequence. Proc Natl Acad Sci U S A. 1982 Mar;79(5):1497–1500. doi: 10.1073/pnas.79.5.1497. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Hamada H., Petrino M. G., Kakunaga T. A novel repeated element with Z-DNA-forming potential is widely found in evolutionarily diverse eukaryotic genomes. Proc Natl Acad Sci U S A. 1982 Nov;79(21):6465–6469. doi: 10.1073/pnas.79.21.6465. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Heilig R., Muraskowsky R., Mandel J. L. The ovalbumin gene family. The 5' end region of the X and Y genes. J Mol Biol. 1982 Mar 25;156(1):1–19. doi: 10.1016/0022-2836(82)90455-7. [DOI] [PubMed] [Google Scholar]
  11. Hess J. F., Fox M., Schmid C., Shen C. K. Molecular evolution of the human adult alpha-globin-like gene region: insertion and deletion of Alu family repeats and non-Alu DNA sequences. Proc Natl Acad Sci U S A. 1983 Oct;80(19):5970–5974. doi: 10.1073/pnas.80.19.5970. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Jeffreys A. J., Harris S. Processes of gene duplication. Nature. 1982 Mar 4;296(5852):9–10. doi: 10.1038/296009a0. [DOI] [PubMed] [Google Scholar]
  13. Kominami R., Urano Y., Mishima Y., Muramatsu M., Moriwaki K., Yoshikura H. Novel repetitive sequence families showing size and frequency polymorphism in the genomes of mice. J Mol Biol. 1983 Apr 5;165(2):209–228. doi: 10.1016/s0022-2836(83)80254-x. [DOI] [PubMed] [Google Scholar]
  14. Lauer J., Shen C. K., 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. doi: 10.1016/0092-8674(80)90240-8. [DOI] [PubMed] [Google Scholar]
  15. Liebhaber S. A., Goossens M. J., Kan Y. W. Cloning and complete nucleotide sequence of human 5'-alpha-globin gene. Proc Natl Acad Sci U S A. 1980 Dec;77(12):7054–7058. doi: 10.1073/pnas.77.12.7054. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Martin S. L., Vincent K. A., Wilson A. C. Rise and fall of the delta globin gene. J Mol Biol. 1983 Mar 15;164(4):513–528. doi: 10.1016/0022-2836(83)90048-7. [DOI] [PubMed] [Google Scholar]
  17. Messing J., Crea R., Seeburg P. H. A system for shotgun DNA sequencing. Nucleic Acids Res. 1981 Jan 24;9(2):309–321. doi: 10.1093/nar/9.2.309. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Messing J., Vieira J. A new pair of M13 vectors for selecting either DNA strand of double-digest restriction fragments. Gene. 1982 Oct;19(3):269–276. doi: 10.1016/0378-1119(82)90016-6. [DOI] [PubMed] [Google Scholar]
  19. Miesfeld R., Krystal M., Arnheim N. A member of a new repeated sequence family which is conserved throughout eucaryotic evolution is found between the human delta and beta globin genes. Nucleic Acids Res. 1981 Nov 25;9(22):5931–5947. doi: 10.1093/nar/9.22.5931. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Proudfoot N. J., Gil A., Maniatis T. The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene. Cell. 1982 Dec;31(3 Pt 2):553–563. doi: 10.1016/0092-8674(82)90311-7. [DOI] [PubMed] [Google Scholar]
  21. Proudfoot N. J., Maniatis T. The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene duplication. Cell. 1980 Sep;21(2):537–544. doi: 10.1016/0092-8674(80)90491-2. [DOI] [PubMed] [Google Scholar]
  22. Sanger F., Nicklen S., Coulson A. R. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463–5467. doi: 10.1073/pnas.74.12.5463. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Schmid C. W., Jelinek W. R. The Alu family of dispersed repetitive sequences. Science. 1982 Jun 4;216(4550):1065–1070. doi: 10.1126/science.6281889. [DOI] [PubMed] [Google Scholar]
  24. Schon E. A., Wernke S. M., Lingrel J. B. Gene conversion of two functional goat alpha-globin genes preserves only minimal flanking sequences. J Biol Chem. 1982 Jun 25;257(12):6825–6835. [PubMed] [Google Scholar]
  25. Shen C. K., Maniatis T. The organization, structure, and in vitro transcription of Alu family RNA polymerase III transcription units in the human alpha-like globin gene cluster: precipitation of in vitro transcripts by lupus anti-La antibodies. J Mol Appl Genet. 1982;1(4):343–360. [PubMed] [Google Scholar]
  26. Smith G. E., Summers M. D. The bidirectional transfer of DNA and RNA to nitrocellulose or diazobenzyloxymethyl-paper. Anal Biochem. 1980 Nov 15;109(1):123–129. doi: 10.1016/0003-2697(80)90019-6. [DOI] [PubMed] [Google Scholar]
  27. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  28. Zimmer E. A., Martin S. L., Beverley S. M., Kan Y. W., Wilson A. C. 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. doi: 10.1073/pnas.77.4.2158. [DOI] [PMC free article] [PubMed] [Google Scholar]

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