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Structural Biology and Functional Genomics pp 19–51Cite as

DNA Repeats in the Human Genome

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Part of the book series: NATO Science Series ((ASHT,volume 71))

Abstract

Repetitive DNA sequences, interspersed through out the human genome, are capable of forming a wide variety of unusual DNA structures with simple and complex loopfolding patterns. The hairpin formed by the fragile X repeat, (CCG)n, and the bipartite triplex formed by the Friedreich’s ataxia repeat, (GAA)n/(TTC)n, show simple loopfolding. On the other hand, the doubly folded hairpin formed by the human centromeric repeat, (AATGG)n, the hairpin G-quartet formed by (TTAGGG)n at the 3’ telomere overhang, and the hairpin G-quartet, and hairpin C+•C paired i-motif formed by the insulin minisatellite \( {\left({\begin{array}{*{20}{c}} {ACA{G_4}}{TGT{G_4}}\\ {TGT{C_4}}{ACA{C_4}} \end{array}}\right)_n}, \) show multiple and complex loopfolding.We have performed high resolution nuclear magnetic resonance (NMR) spectroscopy and in vitro replication to show that unique base-pairing and loopfolding render stability to these unusual structures under physiological conditions. The formation of such stable structures offers a mechanism of unwinding which is advantageous during transcription. For example, the formation of the hairpin G-quartet, and hairpin C+•C paired i-motif upstream of the insulin gene may facilitate transcription. These unusual DNA structures also provide unique “protein recognition motifs” quite different from a Watson-Crick double helix. For example, the hairpin G-quartet formed by (TTAGGG)n at the 3’ telomere overhang is specifically recognized and yeast homologue, may stabilize the human telomere by binding to the multiply folded hairpin G-quartet structures

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Authors and Affiliations

  1. Life Sciences Division, MS 880, Los Alamos National Laboratory, Los Alamos, NM, 87545, USA

    Paolo Catasti, Xian Chen, S. V. Santhana Mariappan, E. Morton Bradbury & Goutam Gupta

  2. Department of Biological Chemistry, School of Medicine, University of California at Davis, Davis, CA, 95616, USA

    E. Morton Bradbury

  3. Theoretical Biology and Biophysics, T-10, MS-K710, Los Alamos, NM, 87545, USA

    Goutam Gupta

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  1. Paolo Catasti
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  2. Xian Chen
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  3. S. V. Santhana Mariappan
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Editors and Affiliations

  1. Life Sciences Division, Los Alamos National Laboratory, Los Alamos, New Mexico, USA

    E. Morton Bradbury

  2. Agricultural Biotechnology Centre, Gödöllõ, Hungary

    Sándor Pongor

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Catasti, P., Chen, X., Mariappan, S.V.S., Bradbury, E.M., Gupta, G. (1999). DNA Repeats in the Human Genome. In: Bradbury, E.M., Pongor, S. (eds) Structural Biology and Functional Genomics. NATO Science Series, vol 71. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-4631-9_2

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  • DOI: https://doi.org/10.1007/978-94-011-4631-9_2

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