期刊
EMBO REPORTS
卷 16, 期 8, 页码 910-922出版社
WILEY
DOI: 10.15252/embr.201540607
关键词
ALS; FTD; G4; helicase; quadruplex
资金
- US National Institutes of Health
- National Cancer Institute [P01 CA77852]
- NATIONAL CANCER INSTITUTE [P01CA077852] Funding Source: NIH RePORTER
Recent research has established clear connections between G-quadruplexes and human disease. Features of quadruplex structures that promote genomic instability have been determined. Quadruplexes have been identified as transcriptional, translational and epigenetic regulatory targets of factors associated with human genetic disease. An expandable GGGGCC motif that can adopt a G4 structure, located in the previously obscure C9ORF72 locus, has been shown to contribute to two well-recognized neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This review focuses on these advances, which further dispel the view that genomic biology is limited to the confines of the canonical B-form DNA duplex, and show how quadruplexes contribute spatial and temporal dimensionalities to linear sequence information. This recent progress also has clear practical ramifications, as prevention, diagnosis, and treatment of disease depend on understanding the underlying mechanisms.
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