Overview of Human Repetitive DNA Sequences

Norman A. Doggett1

1 Los Alamos National Laboratory, Los Alamos, New Mexico
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Appendix 1B
DOI:  10.1002/0471142905.hga01bs08
Online Posting Date:  May, 2001
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Abstract

This appendix contains brief descriptions of the most abundant classes of repetitive DNA in the human genome. The chromosomal distribution of these classes of repeats are shown for human chromosome 16.

     
 
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Table of Contents

  • Literature Cited
  • Figures
     
 
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Materials

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Literature Cited

Literature Cited
   Adams, J.W., Kaufman, R.E., Kretschmer, P.J., Harrison, M., and Nienhuis, A.W. 1980. A family of long reiterated DNA sequences, one copy of which is next to the human beta globin gene. Nucl. Acids Res. 8:6113‐6128.
   Alexandrov, I.A., Mitkevich, B.P. and, Yurov, Y.B. 1988. The phylogeny of human chromosome specific alpha satellites. Chromosoma 96:443‐453.
   Alitalo, T., Willard, H.F., and de la Chapelle, A. 1989. Determination of the breakpoints of 1;7 translocations in myelodysplastic syndrome by in situ hybridization using chromosome‐specific alpha satellite DNA from human chromosomes 1 and 7. Cytogenet. Cell Genet. 50:49‐53.
   Britten, R.J., Graham, D.E., and Neufeld, B.R. 1974. Analysis of repeating DNA sequences by reassociation. Methods Enzymol. 29:363‐417.
   Brown, W.R.A. 1992. Telomerase and chromosome healing. Curr. Biol. 2:127‐129.
   Cheng, J.F., Smith, C.L., and Cantor, C.R. 1991. Structural and transcriptional analysis of a human subtelomeric repeat. Nucl. Acids Res. 19:149‐154.
   Choo, K.N.A., Earle, H., Vissel, H., and Kaltsis, P. 1992. A chromosome 14–specific human satellite III DNA superfamily that shows variable presence on different chromosomes 14. Am. J. Hum. Genet. 50:706‐716.
   Deininger, P.L. and Schmid, C.W. 1980. Ubiquitous, interspersed repeated sequences in mammalian genomes. Biochemistry 77:1398‐1402.
   de Lange, T., Shiue, L., Myers, R.M., Cox, D.R., Naylor, S.L., Killery, A.M., and Varmus, H.E. 1990. Structure and variability of human chromosome ends. Mol. Cell. Biol. 10:518‐527.
   Dombroski, B.A., Mathias, S.L., Nanthakumar, E., Scott, A.F., and Kazazian, H.H. Jr. 1991. Isolation of an active human transposable element. Science 254:1805‐1808.
   Fields, C.A., Grady, D.L., and Moyzis, R.K. 1992. The human THE‐LTR(O) and MstII interspersed repeats are subfamilies of a single widely distributed highly variable repeat family. Genomics 13:431‐436.
   Grimaldi, G., Skowronski, J., and Singer, M.F. 1984. Defining the beginning and end of KpnI family segments. EMBO J. 3:1753‐1759.
   Henderson, E., Hardin, C.C., Walk, S.K., Tinoco, I. Jr., and Blackburn, E.H. 1987. Telomeric DNA oligonucleotides form novel intramolecular structures containing guanine‐guanine base pairs. Cell 51:899‐908.
   Jeffreys, A.J., Wilson, V., and Thein, S.L. 1985. Hypervarible “minisatellite” regions in human DNA. Nature 314:67‐73.
   Jeffreys, A.J., Macleod, A., Tamaki, K., Neil, D.L., and Monckton, D.G. 1991. Minisatellite repeat coding as a digital approach to DNA typing. Nature 354:204‐209.
   Jurka, J., Kaplan, D.J., Duncan, C.H., Walichiewicz, J., Milosavljevic, A., Murali, G., and Solus, J.F. 1993. Identification and characterization of new human reiteration frequency repeats. Nucl. Acids Res. 21:1273‐1279.
   Korenberg, J.R. and Rykowski, M.C. 1988. Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. Cell 53:391‐400.
   Landegent, J.E., in de Wal, N.J., Dirks, R.W., Baas, F., and van der Ploeg, M. 1987. Use of whole cosmid cloned genomic sequences for chromosomal localization by nonradioactive in situ hybridization. Hum. Genet. 77:366‐370.
   Ledbetter, S.A., Nelson, D.L., Warren, S.T., and Ledbetter, D.H. 1990. Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction. Genomics 6:475‐481.
   Macaya, G., Thiery, J.‐P., and Bernardi, G. 1977. DNA sequences in man. In Molecular Structure of Human Chromosomes (J.J. Yunis, ed.) pp. 35‐58. Academic Press, New York.
   Meyne, J. and Moyzis, R.K. 1989. Human chromosome‐specific repetitive DNA probes: Targeting in situ hybridization to chromosome 17 with a 42‐base pair alphoid DNA oligomer. Genomics 4:472‐478.
   Meyne, J., Ratliff, R.L., and Moyzis, R.K. 1989. Conservation of the human telomere sequence (TTAGGG)n among vertebrates. Proc. Nat. Acad. Sci. U.S.A. 86:7049‐7053.
   Moyzis, R.K., Albright, K.L., Bartholdi, M.F., Cram, L.S., Deaven, L.L., Hildebrand, C.E., Joste, N.E., Longmire, J.L., Meyne, J., and Schwarzacher‐Robinson, T. 1987. Human chromosome‐specific repetitive DNA sequences: Novel markers for genetic analysis. Chromosoma 95:375‐386.
   Moyzis, R.K., Buckingham, J.M., Cram, L.S., Dani, M., Deaven, L.L., Jones, M.D., Meyne, J., Ratliff, R.L., and Wu, J.‐R. 1988. A highly conserved repetitive DNA sequence,(TTAGGG)n, present at the telomeres of human chromosomes. Proc. Nat. Acad. Sci. U.S.A. 85:6622‐6626.
   Moyzis, R.K., Torney, D.C., Meyne, J., Buckingham, J.M., Wu, J.R., Burks, C., Sirotkin, K.M., and Goad, W.B. 1989. The distribution of interspersed repetitive DNA sequences in the human genome. Genomics 4:273‐289.
   Nelson, D.L., Ledbetter, S.A., Corbo, L., Victoria, M.F., Ramirez‐Solis, R., Webster, T.D., Ledbetter, D.H., and Caskey, C.T. 1989. Alu polymerase chain reaction: A method for rapid isolation of human‐specific sequences from complex DNA sources. Proc. Nat. Acad. Sci. U.S.A. 86:6686‐6690.
   Porta, G., Zucchi, I., LaDeana, H., Green, P., Nowotny, V., D'Urso, M., and Schlessinger, D. 1993. Alu and L1 sequence distributions in Xq24‐q28 and their comparative utility in YAC contig assembly and verification. Genomics 16:417‐425.
   Prosser, J., Frommer, M., Paul, C., and Vincent, P.C. 1986. Sequence relationships of three human satellite DNAs. J. Mol. Biol. 187:145‐155.
   Rinehart, F.P., Ritch, T.G., Deininger, P.L., and Schmid, C.W. 1981. Renaturation rate studies of a single family of interspersed repeated sequences in human deoxyribonucleic acid. Biochemistry 20:3003‐3010.
   Rouyer, F., de la Chapelle, A., Anderson, M., Weissenbach, J. 1990. An interspersed repeated sequence specific for human subtelomeric regions. EMBO J. 9:505‐514.
   Sealey, P.G., Whittaker, P.A., and Southern, E.M. 1985. Removal of repeated sequences from hybridization probes. Nucl. Acids Res. 13:1905‐1922.
   Shen, H.R., Batzer, M.A., and Deininger, P.L. 1991. Evolution of the master Alu genes. J. Mol. Evol. 33:311‐320.
   Singer, M.F. 1982. Highly repeated sequences in mammalian genomes. Int. Rev. Cytol. 76:67‐112.
   Singer, M.F. and Skowronski, J. 1985. Making sense out of LINES: Long interspersed repeated sequences in mammalian genomes. Trends Biochem. Sci. 10:119‐122.
   Smit, A.F. 1993. Identification of a new, abundant superfamily of mammalian LTR‐transposons. Nucl. Acids Res. 21:1863‐1872.
   Stallings, R.L., Ford, A.F., Nelson, D., Torney, D.C., Hildebrand, C.E., Moyzis, R.K. 1991. Evolution and distribution of (GT)n repetitive sequences in mammalian genomes. Genomics 10:807‐815.
   Ullu, E., Murphy, S., and Melli, M. 1982. Human 7SL RNA consists of a 140 nucleotide middle‐repetitive sequence inserted in an Alu sequence. Cell 29:195‐202.
   Ullu, E. and Tschudi, C. 1984. Alu sequences are processed 7SL RNA genes. Nature 312:171‐172.
   Wahls, W.P., Wallace, L.J., and Moore, P.D. 1990. Hypervariable minisatellite DNA is a hotspot for homologous recombination in human cells. Cell 60:95‐104.
   Weber, J.L. and May, P.E. 1989. Abundant class of human polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44:388‐396.
   Weber, B., Collins, C., Robbins, C., Magenis, R.E., Delaney, A.D., Gray, J.W., and Hayden, M.R. 1990. Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucl. Acids Res. 18:3353‐3362.
   Weber, B., Allen, L., Magenis, R.E., and Hayden, M.R. 1991. A low‐copy repeat located in subtelomeric regions of 14 different human chromosomal termini. Cytogenet. Cell Genet. 57:179‐183.
   Willard, M.F. 1985. Chromosome‐specific organization of human alpha satellite DNA. Am. J. Hum. Genet. 37:524‐532.
   Willard, H.F. and Waye, J.S. 1987. Heirarchial order in chromosome‐specific human alpha satellite DNA. Trends Genet. 3:192‐198.
   Yurov, Y.B., Alexandrov, I.A., Mitkevich, S.P., and Krumin, A.R. 1986. Cloned sequences of satellite DNA specific to pericentromeric heterochromatin of human chromosome 9. Mol. Genet. Mikrobiol. Virusol. 8:9‐11.
   Zakian, V.A. 1989. Structure and function of telomeres. Annu. Rev.Genet. 23:579‐604.
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