Transcription and triplet repeat instability

Lin, Yunfu, Dion, Vincent ORCID: https://orcid.org/0000-0003-4953-7637 and Wilson, John H. 2006. Transcription and triplet repeat instability. Genetic instabilities and neurological diseases, Elsevier, p. 691. (10.1016/b978-012369462-1/50045-4)

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Abstract

At several loci in the human genome, expansions of CAG-CTG trinucleotide repeats cause neurological diseases. The complex tissue-specific patterns of germline and somatic instability present a challenge to understanding the underlying mechanisms. Studies in bacteria and yeast have provided critical insights into the potential mechanisms of instability, but they cannot identify with certainty the pathways responsible for instability in humans. DNA replication-based models, for example, carmot account for the dramatic, age-dependent instability in neurons of the striatum, which do not divide. Thus, additional pathways must contribute to repeat instability in specific tissues. Here, we summarize the data that link transcription to triplet repeat instability in bacteria, yeast, mammaUan cells, and mice. Transcription exposes singlestrands of DNA, potentially allowing the repeats to form hairpins and slipped-strand structures. Interaction of these aberrant DNA structures with repair processes such as nucleotide excision repair and mismatch repair may bring about changes in the length of the repeat tract in nondividing cells.

Item Type:	Book Section
Status:	Published
Publisher:	Elsevier
ISBN:	978-0-12-369462-1
Last Modified:	25 Oct 2022 13:36
URI:	https://orca.cardiff.ac.uk/id/eprint/120283

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