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Expandable DNA repeats and human disease

Author

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  • Sergei M. Mirkin

    (Tufts University)

Abstract

Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA. These DNA repeats seem to be predisposed to such expansion because they have unusual structural features, which disrupt the cellular replication, repair and recombination machineries. The presence of expanded DNA repeats alters gene expression in human cells, leading to disease. Surprisingly, many of these debilitating diseases are caused by repeat expansions in the non-coding regions of their resident genes. It is becoming clear that the peculiar structures of repeat-containing transcripts are at the heart of the pathogenesis of these diseases.

Suggested Citation

  • Sergei M. Mirkin, 2007. "Expandable DNA repeats and human disease," Nature, Nature, vol. 447(7147), pages 932-940, June.
    • Handle: RePEc:nat:nature:v:447:y:2007:i:7147:d:10.1038_nature05977
    DOI: 10.1038/nature05977
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    Cited by:

    1. Corella S. Casas-Delucchi & Manuel Daza-Martin & Sophie L. Williams & Gideon Coster, 2022. "The mechanism of replication stalling and recovery within repetitive DNA," Nature Communications, Nature, vol. 13(1), pages 1-20, December.
    2. Miho M. Suzuki & Kenta Iijima & Koichi Ogami & Keiko Shinjo & Yoshiteru Murofushi & Jingqi Xie & Xuebing Wang & Yotaro Kitano & Akira Mamiya & Yuji Kibe & Tatsunori Nishimura & Fumiharu Ohka & Ryuta S, 2023. "TUG1-mediated R-loop resolution at microsatellite loci as a prerequisite for cancer cell proliferation," Nature Communications, Nature, vol. 14(1), pages 1-20, December.
    3. Pengyu Chen & Guanglin He & Xing Zou & Mengge Wang & Fuquan Jia & Huiru Bai & Jida Li & Jian Yu & Yanyan Han, 2018. "Forensic characterization and genetic polymorphisms of 19 X-chromosomal STRs in 1344 Han Chinese individuals and comprehensive population relationship analyses among 20 Chinese groups," PLOS ONE, Public Library of Science, vol. 13(9), pages 1-21, September.

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