Title:DNA Secondary Structure at Chromosomal Fragile Sites in Human Disease
Volume: 16
Issue: 1
Author(s): Ryan G. Thys, Christine E. Lehman, Levi C. T. Pierce and Yuh-Hwa Wang
Affiliation:
Keywords:
Cancer, DNA fragility, DNA secondary structure, Fragile site, Genome instability, Neurological disease.
Abstract: 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.