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

Alasdair MacKenzie, Benjamin Hing, Scott Davidson

Research output: Contribution to journalArticle

10 Citations (Scopus)
4 Downloads (Pure)

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 languageEnglish
Pages (from-to)99-107
Number of pages9
JournalTrends in Molecular Medicine
Volume19
Issue number2
DOIs
Publication statusPublished - Feb 2013

Fingerprint

Disease Susceptibility
Signal Transduction
Encyclopedias
Precision Medicine
Technology
Gene Expression
DNA
Pharmaceutical Preparations

Keywords

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

Cite this

Exploring the effects of polymorphisms on cis-regulatory signal transduction response. / MacKenzie, Alasdair; Hing, Benjamin; Davidson, Scott.

In: Trends in Molecular Medicine, Vol. 19, No. 2, 02.2013, p. 99-107.

Research output: Contribution to journalArticle

@article{7de06e041f1b49309285053ba2fc80ec,
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.",
keywords = "stratified medicine, gene regulation, cis-regulatory sequence, signal transduction, single nucleotide polymorphism, context dependency, personalized medicine, epigenetic modification",
author = "Alasdair MacKenzie and Benjamin Hing and Scott Davidson",
year = "2013",
month = "2",
doi = "10.1016/j.molmed.2012.11.003",
language = "English",
volume = "19",
pages = "99--107",
journal = "Trends in Molecular Medicine",
issn = "1471-4914",
publisher = "Elsevier Limited",
number = "2",

}

TY - JOUR

T1 - Exploring the effects of polymorphisms on cis-regulatory signal transduction response

AU - MacKenzie, Alasdair

AU - Hing, Benjamin

AU - Davidson, Scott

PY - 2013/2

Y1 - 2013/2

N2 - 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.

AB - 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.

KW - stratified medicine

KW - gene regulation

KW - cis-regulatory sequence

KW - signal transduction

KW - single nucleotide polymorphism

KW - context dependency

KW - personalized medicine

KW - epigenetic modification

U2 - 10.1016/j.molmed.2012.11.003

DO - 10.1016/j.molmed.2012.11.003

M3 - Article

VL - 19

SP - 99

EP - 107

JO - Trends in Molecular Medicine

JF - Trends in Molecular Medicine

SN - 1471-4914

IS - 2

ER -