The noncoding human genome and the future of personalised medicine

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Non-coding cis-regulatory sequences act as the 'eyes' of the genome and their role is to perceive, organise and relay cellular communication information to RNA polymerase II at gene promoters. The evolution of these sequences, that include enhancers, silencers, insulators and promoters, has progressed in multicellular organisms to the extent that cis-regulatory sequences make up as much as 10% of the human genome. Parallel evidence suggests that 75% of polymorphisms associated with heritable disease occur within predicted cis-regulatory sequences that effectively alter the 'perception' of cis-regulatory sequences or render them blind to cell communication cues. Cis-regulatory sequences also act as major functional targets of epigenetic modification thus representing an important conduit through which changes in DNA-methylation affects disease susceptibility. The objectives of the current review are (1) to describe what has been learned about identifying and characterising cis-regulatory sequences since the sequencing of the human genome; (2) to discuss their role in interpreting cell signalling pathways pathways; and (3) outline how this role may be altered by polymorphisms and epigenetic changes. We argue that the importance of the cis-regulatory genome for the interpretation of cellular communication pathways cannot be overstated and understanding its role in health and disease will be critical for the future development of personalised medicine.

Original languageEnglish
Article numbere4
Number of pages20
JournalExpert Reviews in Molecular Medicine
Early online date30 Jan 2015
Publication statusPublished - 2015

Bibliographical note

This work was funded by The BBSRC, the Wellcome Trust and the Medical Research
Council. PC was funded by the Scottish Universities Life Science Alliance and EAH is
funded by Medical Research Scotland. We would like to thank Neil Vargesson, Iain
McEwan and Stefan Hoppler for critically reading our manuscript.


  • Human genome
  • personalised medicine


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