Non-B DNA structure and mutations causing human genetic disease

Bacolla, A., Cooper, David N ORCID: https://orcid.org/0000-0002-8943-8484 and Vasquez, K. M. 2010. Non-B DNA structure and mutations causing human genetic disease. eLS, John Wiley & Sons, (10.1002/9780470015902.a0022657)

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Abstract

In addition to the canonical right-handed double helix, several noncanonical deoxyribonucleic acid (DNA) secondary structures have been characterised, including quadruplexes, triplexes, slipped/hairpins, Z-DNA and cruciforms. The formation of these structures 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 are found in association with specific classes of genes, supporting a role for them in gene regulation or protein function. Repetitive sequence motifs are also commonly found at sites of chromosomal alteration, including gross rearrangements and copy number variations (CNVs) associated with both disease and phenotypic variation. Finally, variable number tandem repeats (VNTRs) or microsatellites are present in many gene regulatory regions. Characterised by an inherent capacity to expand spontaneously, such sequences are not only known to cause >30 neurological diseases but may also contribute to human disease susceptibility. The formation of alternative non-B DNA structures is believed to promote genomic alterations by impeding efficient DNA replication and repair.

Item Type:	Book Section
Date Type:	Published Online
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General)
Uncontrolled Keywords:	Non-B DNA; Microsatellites; Copy number variation (CNV); Triplet repeat diseases; Polyglutamine expansion; Translocations; DNA repair; DNA replication; Double strand breaks (DSB); Gene expression regulation
Publisher:	John Wiley & Sons
ISBN:	9780470015902
Last Modified:	02 Nov 2022 09:59
URI:	https://orca.cardiff.ac.uk/id/eprint/97060

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