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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412965 | PMC |
| http://dx.doi.org/10.2174/1389202916666150114223205 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Determinants of health seeking behaviour in South Sudan: a cross-sectional household survey.
BMC Public Health
January 2025
KIT Royal Tropical Institute, Amsterdam, The Netherlands.
Background: Access to healthcare is a major challenge in South Sudan, but evidence on the factors influencing health seeking behaviour (HSB) and the magnitude of their effect is limited. This study aims to identify which determinants are associated with seeking care for perceived health needs and with seeking care at private or public healthcare facilities in South Sudan.
Methods: A cross-sectional household survey was conducted in three purposefully-selected states (Central Equatoria, Western Equatoria and Warrap).
DNA polymerase zeta can efficiently replicate structures formed by AT/TA repeat sequences and prevent their deletion.
Nucleic Acids Res
December 2024
Department of Biology, Tufts University, Suite 4700, 200 Boston Ave, Medford, MA 02155, USA.
Long AT repeat tracts form non-B DNA structures that stall DNA replication and cause chromosomal breakage. AT repeats are abundant in human common fragile sites (CFSs), genomic regions that undergo breakage under replication stress. Using an in vivo yeast model system containing AT-rich repetitive elements from human CFS FRA16D, we find that DNA polymerase zeta (Pol ζ) is required to prevent breakage and subsequent deletions at hairpin and cruciform forming (AT/TA)n sequences, with little to no role at an (A/T)28 repeat or a control non-structure forming sequence.
View Article and Find Full Text PDFRepair of Acute Grade-3 Combined Posterolateral Corner Avulsion Injuries Using a Transosseous Krackow Suture Pull-Through Technique.
JBJS Essent Surg Tech
December 2024
Department of Orthopaedics and Rehabilitation, Yale School of Medicine, New Haven, Connecticut.
Background: For complete disruption of the posterolateral corner (PLC) structures, operative treatment is most commonly advocated, as nonoperative treatment has higher rates of persistent lateral laxity and posttraumatic arthritis. Some studies have shown that acute direct repair results in revision rates upwards of 37% to 40% compared with 6% to 9% for initial reconstruction. In a recent study assessing the outcomes of acute repair of PLC avulsion injuries with 2 to 7 years of follow-up, patients with adequate tissue were shown to have a much lower failure rate than previously documented.
View Article and Find Full Text PDFOrganic ultraviolet filters in Hainan coral reefs: Distribution, accumulation, and ecological risks.
Environ Pollut
December 2024
State Key Laboratory of Marine Resource Utilization in South China Sea, Hainan University, Haikou, 570228, China. Electronic address:
Article Synopsis
- Organic ultraviolet filters (OUVFs) are commonly found in sunscreen products and have been detected in coral reef ecosystems, particularly in tropical regions like Hainan Island, raising concerns about their ecological impact on coral reefs.
- A study analyzed 14 OUVFs across 24 coral species, seawater, and sediment samples, finding all filters present in every sample location and highlighting species-specific accumulation levels, with benzophenone-3 (BP-3) and 4-methylbenzylidene camphor (4-MBC) as the most concentrated.
- The analysis showed that higher levels of OUVFs correlate with tourist activities, particularly in areas like Sanya, indicating significant risks to coral ecosystems due to sunscreen usage, especially during coral
Transcription as a double-edged sword in genome maintenance.
FEBS Lett
December 2024
Department of Biochemistry and Molecular Biology, Hollings Cancer Center, Medical University of South Carolina, Charleston, SC, USA.
Genome maintenance is essential for the integrity of the genetic blueprint, of which only a small fraction is transcribed in higher eukaryotes. DNA lesions occurring in the transcribed genome trigger transcription pausing and transcription-coupled DNA repair. There are two major transcription-coupled DNA repair pathways.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!