The human genome, gene regulation and genomic variation

Murphy, K.M., Cooper, A. and Tobias, E.S. (2014) The human genome, gene regulation and genomic variation. In: Padmanabhan, S. (ed.) Handbook of Pharmacogenomics and Stratified Medicine. Academic Press: London, pp. 41-56. ISBN 9780123868824 (doi:10.1016/B978-0-12-386882-4.00003-7)

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The genome’s structure is highly complex, in relation not only to its sequence but also to its spatial organization and compaction in chromatin around nucleosomal proteins. The degree of chromatin condensation is dynamic, regulated by multiple mechanisms that include covalent histone modifications and nucleosome repositioning. Gene expression, which is inversely related to chromatin compaction, is equally complex, involving regulation by proteins and by increasingly recognized small RNAs such as microRNAs. Gene expression is also affected by single-nucleotide polymorphisms and DNA copy number variants. The combined effects of these factors on gene expression include altered gene transcription, splicing patterns, and translation. The possible biological significance of the extensive regions of noncoding DNA in the genome is currently being investigated. Such data are essential to the interpretation of increasingly available whole genome array and sequencing results, both in research and in the clinical context.

Item Type:Book Sections
Glasgow Author(s) Enlighten ID:Tobias, Professor Edward
Authors: Murphy, K.M., Cooper, A., and Tobias, E.S.
Subjects:Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
R Medicine > RM Therapeutics. Pharmacology
College/School:College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Publisher:Academic Press
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