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

Alasdair MacKenzie; Benjamin Hing; Scott Davidson

doi:10.1016/j.molmed.2012.11.003

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

Alasdair MacKenzie, Benjamin Hing, Scott Davidson

Medical Sciences

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15 Citations (Scopus)

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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.

Original language	English
Pages (from-to)	99-107
Number of pages	9
Journal	Trends in Molecular Medicine
Volume	19
Issue number	2
DOIs	https://doi.org/10.1016/j.molmed.2012.11.003
Publication status	Published - Feb 2013

Keywords

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

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10.1016/j.molmed.2012.11.003Licence: CC BY

Exploring the effects
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/3.0/
Final published version, 393 KBLicence: CC BY

Cite this

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KW - single nucleotide polymorphism

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JO - Trends in Molecular Medicine

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

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Keywords

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