Jump to ContentJump to Main Navigation
Human Genetic DiversityFunctional Consequences for Health and Disease$
Users without a subscription are not able to see the full content.

Julian C. Knight

Print publication date: 2009

Print ISBN-13: 9780199227693

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780199227693.001.0001

Show Summary Details
Page of

PRINTED FROM OXFORD SCHOLARSHIP ONLINE (www.oxfordscholarship.com). (c) Copyright Oxford University Press, 2019. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 20 August 2019

Genetics of gene expression

Genetics of gene expression

Chapter:
(p.277) Chapter 11 Genetics of gene expression
Source:
Human Genetic Diversity
Author(s):

Julian C. Knight

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780199227693.003.0011

This chapter discusses the role of genetic variation in modulating gene expression and how this can help resolve functionally important regulatory variants. The successful application of genetic mapping techniques to define expression quantitative trait loci in model organisms including yeast and mice is discussed, together with evidence from studies of human populations. The need to take into account transcript isoform diversity resulting from alternative splicing is highlighted, together with the value of analysis based on allele-specific gene expression and at the protein level. The synergy between genome-wide disease association studies and analysis of the genetics of gene expression, also at a genome-wide level in terms of markers and expression traits, is illustrated by review of recent studies in asthma. The context specificity of regulatory variants is demonstrated, noting the importance of analysis in primary cells or tissues in conditions relevant to the disease or other trait of interest.

Keywords:   gene expression, regulatory variant, expression quantitative trait, allele-specific, alternative splicing, genome-wide association, asthma, genetical genomics, imprinting, microarray

Oxford Scholarship Online requires a subscription or purchase to access the full text of books within the service. Public users can however freely search the site and view the abstracts and keywords for each book and chapter.

Please, subscribe or login to access full text content.

If you think you should have access to this title, please contact your librarian.

To troubleshoot, please check our FAQs , and if you can't find the answer there, please contact us .