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. 1986 Jun;83(11):3875–3879. doi: 10.1073/pnas.83.11.3875

Insertion and/or deletion of many repeated DNA sequences in human and higher ape evolution.

H R Hwu, J W Roberts, E H Davidson, R J Britten
PMCID: PMC323627  PMID: 3012536

Abstract

The total numbers of copies of two repeat families, L1 (Kpn I) and Alu, have been measured in the DNA of four higher apes by an accurate titration method. The number of members of the Alu family repeats in the four genomes are as follows: human, 910,000; chimpanzee, 330,000; gorilla, 410,000; orangutan, 580,000. For the Kpn I family (3'-ward higher frequency region) the number of copies in these genomes are as follows: human, 107,000; chimpanzee, 51,000; gorilla, 64,000; orangutan, 84,000. Thermal stability measurements show that, although the families of repeats are moderately divergent in sequence, little net sequence change has occurred during the evolution of the higher apes. Most or all of the members of these families of repeats are interspersed throughout the genome. Therefore, a large number of events of insertion and/or deletion of these DNA sequences has occurred during higher primate evolution.

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Selected References

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

  1. Adams J. W., Kaufman R. E., Kretschmer P. J., Harrison M., Nienhuis A. W. A family of long reiterated DNA sequences, one copy of which is next to the human beta globin gene. Nucleic Acids Res. 1980 Dec 20;8(24):6113–6128. doi: 10.1093/nar/8.24.6113. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Anderson D. M., Scheller R. H., Posakony J. W., McAllister L. B., Trabert S. G., Beall C., Britten R. J., Davidson E. H. Repetitive sequences of the sea urchin genome. Distribution of members of specific repetitive families. J Mol Biol. 1981 Jan 5;145(1):5–28. doi: 10.1016/0022-2836(81)90332-6. [DOI] [PubMed] [Google Scholar]
  3. Baralle F. E., Shoulders C. C., Goodbourn S., Jeffreys A., Proudfoot N. J. The 5' flanking region of human epsilon-globin gene. Nucleic Acids Res. 1980 Oct 10;8(19):4393–4404. doi: 10.1093/nar/8.19.4393. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Benton W. D., Davis R. W. Screening lambdagt recombinant clones by hybridization to single plaques in situ. Science. 1977 Apr 8;196(4286):180–182. doi: 10.1126/science.322279. [DOI] [PubMed] [Google Scholar]
  5. Dowsett A. P. Closely related species of Drosophila can contain different libraries of middle repetitive DNA sequences. Chromosoma. 1983;88(2):104–108. doi: 10.1007/BF00327329. [DOI] [PubMed] [Google Scholar]
  6. Dowsett A. P., Young M. W. Differing levels of dispersed repetitive DNA among closely related species of Drosophila. Proc Natl Acad Sci U S A. 1982 Aug;79(15):4570–4574. doi: 10.1073/pnas.79.15.4570. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Fanning T. G. Size and structure of the highly repetitive BAM HI element in mice. Nucleic Acids Res. 1983 Aug 11;11(15):5073–5091. doi: 10.1093/nar/11.15.5073. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Frommer M., Prosser J., Vincent P. C. Human satellite I sequences include a male specific 2.47 kb tandemly repeated unit containing one Alu family member per repeat. Nucleic Acids Res. 1984 Mar 26;12(6):2887–2900. doi: 10.1093/nar/12.6.2887. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Graham D. E. The isolation of high molecular weight DNA from whole organisms or large tissue masses. Anal Biochem. 1978 Apr;85(2):609–613. doi: 10.1016/0003-2697(78)90262-2. [DOI] [PubMed] [Google Scholar]
  10. Grimaldi G., Singer M. F. Members of the KpnI family of long interspersed repeated sequences join and interrupt alpha-satellite in the monkey genome. Nucleic Acids Res. 1983 Jan 25;11(2):321–338. doi: 10.1093/nar/11.2.321. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Grimaldi G., Skowronski J., Singer M. F. Defining the beginning and end of KpnI family segments. EMBO J. 1984 Aug;3(8):1753–1759. doi: 10.1002/j.1460-2075.1984.tb02042.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Hall T. J., Grula J. W., Davidson E. H., Britten R. J. Evolution of sea urchin non-repetitive DNA. J Mol Evol. 1980 Dec;16(2):95–110. doi: 10.1007/BF01731580. [DOI] [PubMed] [Google Scholar]
  13. Harpold M. M., Craig S. P. The evolution of nonrepetitive DNA in sea urchins. Differentiation. 1978 Jan 13;10(1):7–11. doi: 10.1111/j.1432-0436.1978.tb00939.x. [DOI] [PubMed] [Google Scholar]
  14. Houck C. M., Rinehart F. P., Schmid C. W. A ubiquitous family of repeated DNA sequences in the human genome. J Mol Biol. 1979 Aug 15;132(3):289–306. doi: 10.1016/0022-2836(79)90261-4. [DOI] [PubMed] [Google Scholar]
  15. Jagadeeswaran P., Forget B. G., Weissman S. M. Short interspersed repetitive DNA elements in eucaryotes: transposable DNA elements generated by reverse transcription of RNA pol III transcripts? Cell. 1981 Oct;26(2 Pt 2):141–142. doi: 10.1016/0092-8674(81)90296-8. [DOI] [PubMed] [Google Scholar]
  16. Lerman M. I., Thayer R. E., Singer M. F. Kpn I family of long interspersed repeated DNA sequences in primates: polymorphism of family members and evidence for transcription. Proc Natl Acad Sci U S A. 1983 Jul;80(13):3966–3970. doi: 10.1073/pnas.80.13.3966. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Miyake T., Migita K., Sakaki Y. Some KpnI family members are associated with the Alu family in the human genome. Nucleic Acids Res. 1983 Oct 11;11(19):6837–6846. doi: 10.1093/nar/11.19.6837. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Moore G. P., Costantini F. D., Posakony J. W., Davidson E. H., Britten R. J. Evolutionary conservation of repetitive sequence expression in sea urchin egg RNA's. Science. 1980 May 30;208(4447):1046–1048. doi: 10.1126/science.6154974. [DOI] [PubMed] [Google Scholar]
  19. Moore G. P., Pearson W. R., Davidson E. H., Britten R. J. Long and short repeats of sea urchin DNA and their evolution. Chromosoma. 1981;84(1):19–32. doi: 10.1007/BF00293360. [DOI] [PubMed] [Google Scholar]
  20. Moore G. P., Scheller R. H., Davidson E. H., Britten R. J. Evolutionary change in the repetition frequency of sea urchin DNA sequences. Cell. 1978 Oct;15(2):649–660. doi: 10.1016/0092-8674(78)90033-8. [DOI] [PubMed] [Google Scholar]
  21. Potter S. S., Brorein W. J., Jr, Dunsmuir P., Rubin G. M. Transposition of elements of the 412, copia and 297 dispersed repeated gene families in Drosophila. Cell. 1979 Jun;17(2):415–427. doi: 10.1016/0092-8674(79)90168-5. [DOI] [PubMed] [Google Scholar]
  22. Rogers J. H. Long interspersed sequences in mammalian DNA. Properties of newly identified specimens. Biochim Biophys Acta. 1985 Feb 20;824(2):113–120. doi: 10.1016/0167-4781(85)90087-9. [DOI] [PubMed] [Google Scholar]
  23. Sawada I., Willard C., Shen C. K., Chapman B., Wilson A. C., Schmid C. W. Evolution of Alu family repeats since the divergence of human and chimpanzee. J Mol Evol. 1985;22(4):316–322. doi: 10.1007/BF02115687. [DOI] [PubMed] [Google Scholar]
  24. Scheller R. H., Anderson D. M., Posakony J. W., McAllister L. B., Britten R. J., Davidson E. H. Repetitive sequences of the sea urchin genome. II. Subfamily structure and evolutionary conservation. J Mol Biol. 1981 Jun 15;149(1):15–39. doi: 10.1016/0022-2836(81)90258-8. [DOI] [PubMed] [Google Scholar]
  25. 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]
  26. Sibley C. G., Ahlquist J. E. The phylogeny of the hominoid primates, as indicated by DNA-DNA hybridization. J Mol Evol. 1984;20(1):2–15. doi: 10.1007/BF02101980. [DOI] [PubMed] [Google Scholar]
  27. Singer M. F. SINEs and LINEs: highly repeated short and long interspersed sequences in mammalian genomes. Cell. 1982 Mar;28(3):433–434. doi: 10.1016/0092-8674(82)90194-5. [DOI] [PubMed] [Google Scholar]
  28. Singer M. F., Thayer R. E., Grimaldi G., Lerman M. I., Fanning T. G. Homology between the KpnI primate and BamH1 (M1F-1) rodent families of long interspersed repeated sequences. Nucleic Acids Res. 1983 Aug 25;11(16):5739–5745. doi: 10.1093/nar/11.16.5739. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. 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]
  30. Strobel E., Dunsmuir P., Rubin G. M. Polymorphisms in the chromosomal locations of elements of the 412, copia and 297 dispersed repeated gene families in Drosophila. Cell. 1979 Jun;17(2):429–439. doi: 10.1016/0092-8674(79)90169-7. [DOI] [PubMed] [Google Scholar]
  31. Thayer R. E., Singer M. F. Interruption of an alpha-satellite array by a short member of the KpnI family of interspersed, highly repeated monkey DNA sequences. Mol Cell Biol. 1983 Jun;3(6):967–973. doi: 10.1128/mcb.3.6.967. [DOI] [PMC free article] [PubMed] [Google Scholar]
  32. Van Arsdell S. W., Denison R. A., Bernstein L. B., Weiner A. M., Manser T., Gesteland R. F. Direct repeats flank three small nuclear RNA pseudogenes in the human genome. Cell. 1981 Oct;26(1 Pt 1):11–17. doi: 10.1016/0092-8674(81)90028-3. [DOI] [PubMed] [Google Scholar]
  33. Young M. W. Middle repetitive DNA: a fluid component of the Drosophila genome. Proc Natl Acad Sci U S A. 1979 Dec;76(12):6274–6278. doi: 10.1073/pnas.76.12.6274. [DOI] [PMC free article] [PubMed] [Google Scholar]

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