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Toward a unified theory for repeat expansions

Nature Structural & Molecular Biology volume 12, pages 635–637 (2005)Cite this article

Two studies now explain why triplet DNA repeats tend to expand in the human genome, causing such severe hereditary neurological disorders as myotonic dystrophy and Huntington disease.

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Figure 1: Slippage of repeat-containing DNA strands during DNA synthesis can lead to either expansions or contractions when slip-outs are in the nascent or template DNA strand, respectively.
Figure 2: Replication model for repeat expansions in dividing cells.
Figure 3: Repair model for repeat expansions in nondividing cells.

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Acknowledgements

I thank K. Mirkin for her constructive criticism. U.S. National Institute of General Medical Sciences grant GM 60987 supported my studies.

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  1. the Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, 60607, Illinois

    Sergei M Mirkin

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Mirkin, S. Toward a unified theory for repeat expansions. Nat Struct Mol Biol 12, 635–637 (2005). https://doi.org/10.1038/nsmb0805-635

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