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. 1986 Jul;83(13):4665–4669. doi: 10.1073/pnas.83.13.4665

A repetitive DNA family (Sau3A family) in human chromosomes: extrachromosomal DNA and DNA polymorphism.

R Kiyama, H Matsui, M Oishi
PMCID: PMC323802  PMID: 3014502

Abstract

In this paper, we report a tandemly repeated DNA sequence found in human chromosomes. The DNA sequence, which is present at approximately 1000 copies per haploid genome, consists of a basic unit 849 base pairs (bp) long with a single specific restriction enzyme (Sau3AI) cutting site. The unit is further composed of five subunits, each approximately 170 bp long. When DNAs from various sources were examined by Southern hybridization using the repetitive DNA as a probe, a considerable degree of restriction fragment length polymorphism was observed. Furthermore, a substantial percentage (approximately 1.0%) of the same DNA sequence was also found extrachromosomally in the cultured human (HeLa) cells as monomers and oligomers of the basic unit in the form of covalently closed circular DNA. These results suggest that the repetitive DNA is unstable and prone to be excised from the chromosomes through homologous recombination.

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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. Bertelsen A. H., Humayun M. Z., Karfopoulos S. G., Rush M. G. Molecular characterization of small polydisperse circular deoxyribonucleic acid from an African green monkey cell line. Biochemistry. 1982 Apr 27;21(9):2076–2085. doi: 10.1021/bi00538a015. [DOI] [PubMed] [Google Scholar]
  3. Birnboim H. C., Doly J. A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res. 1979 Nov 24;7(6):1513–1523. doi: 10.1093/nar/7.6.1513. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Hirt B. Selective extraction of polyoma DNA from infected mouse cell cultures. J Mol Biol. 1967 Jun 14;26(2):365–369. doi: 10.1016/0022-2836(67)90307-5. [DOI] [PubMed] [Google Scholar]
  5. 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]
  6. Jeffreys A. J., Wilson V., Thein S. L. Hypervariable 'minisatellite' regions in human DNA. Nature. 1985 Mar 7;314(6006):67–73. doi: 10.1038/314067a0. [DOI] [PubMed] [Google Scholar]
  7. Jelinek W. R., Schmid C. W. Repetitive sequences in eukaryotic DNA and their expression. Annu Rev Biochem. 1982;51:813–844. doi: 10.1146/annurev.bi.51.070182.004121. [DOI] [PubMed] [Google Scholar]
  8. Jones R. S., Potter S. S. Characterization of cloned human alphoid satellite with an unusual monomeric construction: evidence for enrichment in HeLa small polydisperse circular DNA. Nucleic Acids Res. 1985 Feb 11;13(3):1027–1042. doi: 10.1093/nar/13.3.1027. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Jones R. S., Potter S. S. L1 sequences in HeLa extrachromosomal circular DNA: evidence for circularization by homologous recombination. Proc Natl Acad Sci U S A. 1985 Apr;82(7):1989–1993. doi: 10.1073/pnas.82.7.1989. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Kunisada T., Yamagishi H. Sequence repetition and genomic distribution of small polydisperse circular DNA purified from HeLa cells. Gene. 1984 Nov;31(1-3):213–223. doi: 10.1016/0378-1119(84)90212-9. [DOI] [PubMed] [Google Scholar]
  11. Kurnit D. M., Maio J. J. Variable satellite DNA's in the African green monkey Cercopithecus aethiops. Chromosoma. 1974 May 10;45(4):387–400. doi: 10.1007/BF00283385. [DOI] [PubMed] [Google Scholar]
  12. McMilin K. D., Stahl M. M., Stahl F. W. Rec-mediated recombinational hot spot activity in bacteriophage lambda. I. Hot spot activity associated with spi-deletions and bio substitutions. Genetics. 1974 Jul;77(3):409–423. doi: 10.1093/genetics/77.3.409. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Rigby P. W., Dieckmann M., Rhodes C., Berg P. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I. J Mol Biol. 1977 Jun 15;113(1):237–251. doi: 10.1016/0022-2836(77)90052-3. [DOI] [PubMed] [Google Scholar]
  14. Rosenberg H., Singer M., Rosenberg M. Highly reiterated sequences of SIMIANSIMIANSIMIANSIMIANSIMIAN. Science. 1978 Apr 28;200(4340):394–402. doi: 10.1126/science.205944. [DOI] [PubMed] [Google Scholar]
  15. Shafit-Zagardo B., Maio J. J., Brown F. L. KpnI families of long, interspersed repetitive DNAs in human and other primate genomes. Nucleic Acids Res. 1982 May 25;10(10):3175–3193. doi: 10.1093/nar/10.10.3175. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Shimizu Y., Yoshida K., Ren C. S., Fujinaga K., Rajagopalan S., Chinnadurai G. Hinf family: a novel repeated DNA family of the human genome. Nature. 1983 Apr 14;302(5909):587–590. doi: 10.1038/302587a0. [DOI] [PubMed] [Google Scholar]
  17. Smith C. A., Vinograd J. Small polydisperse circular DNA of HeLa cells. J Mol Biol. 1972 Aug 21;69(2):163–178. doi: 10.1016/0022-2836(72)90222-7. [DOI] [PubMed] [Google Scholar]
  18. Smith G. R., Kunes S. M., Schultz D. W., Taylor A., Triman K. L. Structure of chi hotspots of generalized recombination. Cell. 1981 May;24(2):429–436. doi: 10.1016/0092-8674(81)90333-0. [DOI] [PubMed] [Google Scholar]
  19. 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]
  20. Stahl F. W., Crasemann J. M., Stahl M. M. Rec-mediated recombinational hot spot activity in bacteriophage lambda. III. Chi mutations are site-mutations stimulating rec-mediated recombination. J Mol Biol. 1975 May 15;94(2):203–212. doi: 10.1016/0022-2836(75)90078-9. [DOI] [PubMed] [Google Scholar]
  21. Vieira J., Messing J. The pUC plasmids, an M13mp7-derived system for insertion mutagenesis and sequencing with synthetic universal primers. Gene. 1982 Oct;19(3):259–268. doi: 10.1016/0378-1119(82)90015-4. [DOI] [PubMed] [Google Scholar]
  22. Wallace R. B., Johnson M. J., Suggs S. V., Miyoshi K., Bhatt R., Itakura K. A set of synthetic oligodeoxyribonucleotide primers for DNA sequencing in the plasmid vector pBR322. Gene. 1981 Dec;16(1-3):21–26. doi: 10.1016/0378-1119(81)90057-3. [DOI] [PubMed] [Google Scholar]
  23. Wu J. C., Manuelidis L. Sequence definition and organization of a human repeated DNA. J Mol Biol. 1980 Sep 25;142(3):363–386. doi: 10.1016/0022-2836(80)90277-6. [DOI] [PubMed] [Google Scholar]

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