Exploring the effects of polymorphisms on cis-regulatory signal transduction response

Alasdair MacKenzie, Benjamin Hing, Scott Davidson

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)
9 Downloads (Pure)


cis-Regulatory sequences (CRSs) direct cell-specific and inducible gene expression in response to signal transduction networks, and it is becoming apparent that many cases of disease susceptibility and drug response stratification are due to polymorphisms that alter CRS responses in a context-dependent manner. In the current review, we describe successful methods for identifying CRSs and analyzing the effects of allelic variation on their responses to signal transduction. The technologies described build on the successes of ENCODE (ENCyclopedia Of DNA Elements) by exploring the effects of polymorphisms on CRS context dependency. This understanding is essential to uncover the genomic basis of disease susceptibility and will play a major role in delivering on the promise of personalized medicine.
Original languageEnglish
Pages (from-to)99-107
Number of pages9
JournalTrends in Molecular Medicine
Issue number2
Publication statusPublished - Feb 2013


  • stratified medicine
  • gene regulation
  • cis-regulatory sequence
  • signal transduction
  • single nucleotide polymorphism
  • context dependency
  • personalized medicine
  • epigenetic modification


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