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G-quadruplex Nucleic Acids and Human Disease

Overview
Journal FEBS J
Specialty Biochemistry
Date 2010 Jul 31
PMID 20670277
Citations 121
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Abstract

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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References
1.
Rutter J, Smith A, Davila M, Sigurdson A, Giusti R, Pineda M . Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals. Hum Mutat. 2003; 22(2):121-8. DOI: 10.1002/humu.10238. View

2.
Crabbe L, Jauch A, Naeger C, Holtgreve-Grez H, Karlseder J . Telomere dysfunction as a cause of genomic instability in Werner syndrome. Proc Natl Acad Sci U S A. 2007; 104(7):2205-10. PMC: 1794219. DOI: 10.1073/pnas.0609410104. View

3.
Karppinen S, Vuosku J, Heikkinen K, Allinen M, Winqvist R . No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. Eur J Cancer. 2003; 39(3):366-71. DOI: 10.1016/s0959-8049(02)00498-7. View

4.
Schawalder J, Paric E, Neff N . Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase. BMC Cell Biol. 2003; 4:15. PMC: 270065. DOI: 10.1186/1471-2121-4-15. View

5.
Masuda-Sasa T, Imamura O, Campbell J . Biochemical analysis of human Dna2. Nucleic Acids Res. 2006; 34(6):1865-75. PMC: 1428797. DOI: 10.1093/nar/gkl070. View