title: Exploring the effects of polymorphisms on cis-regulatory signal transduction response.
abstract: 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.
authors.affiliation: Gene Regulatory Systems Laboratory, School of Medical Sciences, Institute of Medical Sciences, University of Aberdeen, Aberdeen, Scotland AB25 2ZD, UK. alasdair.mackenzie@abdn.ac.uk
authors.forename: Alasdair
authors.initials: A
authors.lastname: MacKenzie
authors.forename: Benjamin
authors.initials: B
authors.lastname: Hing
authors.forename: Scott
authors.initials: S
authors.lastname: Davidson
mesh_terms: D000818:Animals; D057890:Epigenomics; D005786:Gene Expression Regulation; D055106:Genome-Wide Association Study; D006801:Humans; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide; D012045:Regulatory Sequences, Nucleic Acid; D015398:Signal Transduction