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DNA Secondary Structure at Chromosomal Fragile Sites in Human Disease

[ Vol. 16 , Issue. 1 ]


Ryan G. Thys, Christine E. Lehman, Levi C. T. Pierce and Yuh-Hwa Wang   Pages 60 - 70 ( 11 )


DNA has the ability to form a variety of secondary structures that can interfere with normal cellular processes, and many of these structures have been associated with neurological diseases and cancer. Secondary structure-forming sequences are often found at chromosomal fragile sites, which are hotspots for sister chromatid exchange, chromosomal translocations, and deletions. Structures formed at fragile sites can lead to instability by disrupting normal cellular processes such as DNA replication and transcription. The instability caused by disruption of replication and transcription can lead to DNA breakage, resulting in gene rearrangements and deletions that cause disease. In this review, we discuss the role of DNA secondary structure at fragile sites in human disease.


Cancer, DNA fragility, DNA secondary structure, Fragile site, Genome instability, Neurological disease.


Department of Biochemistry & Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia 22908, USA.

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