期刊
FEBS JOURNAL
卷 277, 期 17, 页码 3470-3488出版社
WILEY
DOI: 10.1111/j.1742-4658.2010.07760.x
关键词
BLM; Bloom's syndrome; FANCJ; Fanconi anemia; genomic instability; G-quadruplex; helicase; telomere; Werner syndrome; WRN
资金
- NIH, National Institute on Aging
- Fanconi Anemia Research Fund
- NATIONAL INSTITUTE ON AGING [ZIAAG000741, ZIAAG000753, ZIAAG000752] Funding Source: NIH RePORTER
Alternate DNA structures that deviate from B-form double-stranded DNA such as G-quadruplex (G4) DNA can be formed by sequences that are widely distributed throughout the human genome. G-quadruplex secondary structures, formed by the stacking of planar quartets composed of four guanines that interact by Hoogsteen hydrogen bonding, can affect cellular DNA replication and transcription, and influence genomic stability. The unique metabolism of G-rich chromosomal regions that potentially form quadruplexes may influence a number of biological processes including immunoglobulin gene rearrangements, promoter activation and telomere maintenance. A number of human diseases are characterized by telomere defects, and it is proposed that G-quadruplex structures which form at telomere ends play an important role in telomere stability. Evidence from cellular studies and model organisms suggests that diseases with known defects in G4 DNA helicases are likely to be perturbed in telomere maintenance and cellular DNA replication. In this minireview, we discuss the connections of G-quadruplex nucleic acids to human genetic diseases and cancer based on the recent literature.
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