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• W1720377166 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. Key Concepts: The structure of DNA is polymorphic as well as its sequence; in addition to the canonical right-handed double helix (B-DNA), repetitive sequences can also adopt alternative (non-B DNA) conformations such as quadruplexes, triplexes, slipped/hairpins, Z-DNA and cruciforms. Repetitive DNA sequences are found at locations within many human genes that suggest they can either affect transcription or alternatively encode homopolymeric amino acid runs that could be important for either protein–protein or protein–DNA/RNA interactions. The integrity of the Y-chromosome depends on large inverted repeats, which have the capacity to form cruciform structures that may potentiate intrachromosomal recombination. Copy number variation (CNV) is a form of genetic alteration that, by involving thousands of loci in the genome, contributes to human individuality. Repetitive sequences capable of forming non-B DNA are found at sites of chromosomal breaks, CNVs and other rearrangements such as translocations and gene conversion events, which can contribute to human genetic disease. The recurrent translocation t(22;11) events associated with Emanuel syndrome are mediated by cruciform structures that occur at inverted repeats. Tandem repeats (microsatellites) may expand within gene sequences, contributing to more than 30 neurological diseases. Present in variable number in genes in the population, they may contribute to human disease susceptibility. Experiments in model systems and bioinformatic analyses support the conclusion that repetitive sequences trigger genomic instability by adopting non-B DNA conformations. Non-B DNA structures stimulate mutations via mechanisms that alter DNA synthesis and repair." @default.
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• W1720377166 date "2010-10-18" @default.
• W1720377166 modified "2023-09-24" @default.
• W1720377166 title "Non-B DNA Structure and Mutations Causing Human Genetic Disease" @default.
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• W1720377166 doi "https://doi.org/10.1002/9780470015902.a0022657" @default.
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