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Non-B DNA structure and mutations causing human genetic disease

Bacolla, Albino, Cooper, David Neil, Vasquez, Karen M. and Tainer, John A. 2018. Non-B DNA structure and mutations causing human genetic disease. eLS, John Wiley & Sons, (10.1002/9780470015902.a0022657.pub2)

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Besides the canonical right‐handed double helix, biologically important noncanonical deoxyribonucleic acid (DNA) secondary structures have been characterised, including quadruplexes, triplexes, slipped/hairpins, Z‐DNA and cruciforms, collectively termed non‐B DNA. Formation of non‐B DNA is mediated by repetitive sequence motifs, such as G‐rich sequences, purine/pyrimidine tracts, direct (tandem) repeats, alternating purine–pyrimidines and inverted repeats, respectively. Such repeats are abundant in the human genome and non‐B DNA occurs at specific genomic locations, supporting a role in gene regulation, RNA translation and protein function. Repetitive motifs are also found at sites of chromosomal alterations associated with both human genetic disease and cancer. Characterised by an inherent capacity to expand spontaneously, such sequences not only cause >30 neurological diseases but may also contribute to disease susceptibility. The formation of non‐B DNA structures is believed to promote genomic alterations by impeding efficient and error‐free DNA replication, transcription and repair.

Item Type: Book Section
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
Additional Information: This is an updated version of
Publisher: John Wiley & Sons
Related URLs:
Date of First Compliant Deposit: 28 March 2018
Date of Acceptance: 11 January 2018
Last Modified: 15 May 2018 09:15

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