Skip to main content

Main menu

  • Home
  • About the Journal
    • General Information
    • Scope
    • Editorial Board
    • Benefits of Publishing
    • Impact & Metrics
    • Advertising/Sponsorship
    • About the Biochemical Society
  • Current Issue
  • For Authors
    • Submit Your Paper
    • Submission Guidelines
    • Editorial Policy
    • Open Access Policy
    • Rights and Permissions
    • Biochemical Society Member Benefits
  • For Librarians
    • Subscriptions and Pricing
    • Open Access Policy
    • Clinical Science- Terms and Conditions of Usage
    • Register for Free Trial
  • For Readers
    • Rights and Permissions
    • Biochemical Society Member Benefits
    • Request a Free Trial
  • Collections
  • Help
    • Contact Us
  • Other Publications
    • NEW: Emerging Topics in Life Sciences
    • NEW: Neuronal Signaling
    • Clinical Science
    • Biochemical Journal
    • Biochemical Society Transactions
    • Bioscience Reports
    • Essays in Biochemistry
    • Biochemical Society Symposia
    • Cell Signalling Biology
    • Glossary of Biochemistry and Molecular Biology
    • The Biochemist
    • Biochemical Society

User menu

  • Log-in
  • Subscribe
  • Contact Us

Search

  • Advanced search
  • Other Publications
    • NEW: Emerging Topics in Life Sciences
    • NEW: Neuronal Signaling
    • Clinical Science
    • Biochemical Journal
    • Biochemical Society Transactions
    • Bioscience Reports
    • Essays in Biochemistry
    • Biochemical Society Symposia
    • Cell Signalling Biology
    • Glossary of Biochemistry and Molecular Biology
    • The Biochemist
    • Biochemical Society

Log-in

Sign-up for alerts  
  • My Cart
Clinical Science
Browse Archive
Advanced Search
  • Home
  • About the Journal
    • General Information
    • Scope
    • Editorial Board
    • Benefits of Publishing
    • Impact & Metrics
    • Advertising/Sponsorship
    • About the Biochemical Society
  • Current Issue
  • For Authors
    • Submit Your Paper
    • Submission Guidelines
    • Editorial Policy
    • Open Access Policy
    • Rights and Permissions
    • Biochemical Society Member Benefits
  • For Librarians
    • Subscriptions and Pricing
    • Open Access Policy
    • Clinical Science- Terms and Conditions of Usage
    • Register for Free Trial
  • For Readers
    • Rights and Permissions
    • Biochemical Society Member Benefits
    • Request a Free Trial
  • Collections
  • Help
    • Contact Us

glaxosmithkline/Mrs paper

Functional implications of genetic variation in non-coding DNA for disease susceptibility and gene regulation

Julian C. KNIGHT
Clinical Science May 01, 2003, 104 (5) 493-501; DOI: 10.1042/CS20020304
Julian C. KNIGHT
Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, U.K.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • View author's works on this site
  • For correspondence: julian@well.ox.ac.uk
  • Article
  • Info & Metrics
  • PDF
Loading

Abstract

The role of host genetic variation in determining susceptibility to complex disease traits is the subject of much research effort, but it often remains unclear whether disease-associated genetic polymorphisms are themselves functionally relevant or acting only as markers within an extended haplotype. Experimental approaches to investigate the functional impact of polymorphisms in non-coding regulatory DNA sequences for gene expression are discussed, including the role of gel-shift assays, DNA footprinting and reporter gene analysis. The limitations of different experimental approaches are presented together with future prospects for in vivo analysis. The strategic application of these functional approaches is discussed and illustrated by analysis of the role of genetic variation in the tumour necrosis factor promoter region in determining susceptibility to severe malaria.

  • gene regulation
  • genetic susceptibility
  • polymorphism
  • tumour necrosis factor
  • The Biochemical Society © 2003
Previous ArticleNext Article
Back to top

May 2003

Volume: 104 Issue: 5

Clinical Science: 104 (5)
  • Table of Contents
  • Index by author

Actions

Email

Thank you for your interest in spreading the word about Clinical Science.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Functional implications of genetic variation in non-coding DNA for disease susceptibility and gene regulation
(Your Name) has forwarded a page to you from Clinical Science
(Your Name) thought you would like to see this page from the Clinical Science web site.
Share
Functional implications of genetic variation in non-coding DNA for disease susceptibility and gene regulation
Julian C. KNIGHT
Clinical Science May 2003, 104 (5) 493-501; DOI: 10.1042/CS20020304
del.icio.us logo Digg logo Reddit logo Technorati logo Twitter logo CiteULike logo Facebook logo Mendeley logo
Citation Tools
Functional implications of genetic variation in non-coding DNA for disease susceptibility and gene regulation
Julian C. KNIGHT
Clinical Science May 2003, 104 (5) 493-501; DOI: 10.1042/CS20020304

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Alerts

Please log in to add an alert for this article.

Request Permissions
Save to my folders

View Full PDF

 Open in Utopia Docs
  • Tweet Widget
  • Facebook Like

Jump To

  • Article
  • Info & Metrics
  • PDF

Keywords

gene regulation
genetic susceptibility
polymorphism
tumour necrosis factor

Related Articles

Cited By...

  • Portland Press Homepage
  • Publish With Us
  • Advertising
  • Technical Support
  • Clinical Science
  • Biochemical Journal
  • Essays in Biochemistry
  • Biochemical Society Transactions
  • Biochemical Society Symposia
  • Bioscience Reports
  • Emerging Topics in Life Sciences
  • Neuronal Signaling
  • Cell Signalling Biology

Portland Press Limited
Charles Darwin House
12 Roger Street
London WC1N 2JU
Tel: +44(0) 20 7685 2410
Fax: +44(0) 20 7685 2469
Email: editorial@portlandpress.com

The Biochemical Society