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Human Genetic DiversityFunctional Consequences for Health and Disease$
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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

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Genetics of gene expression

Genetics of gene expression

(p.277) Chapter 11 Genetics of gene expression
Human Genetic Diversity

Julian C. Knight

Oxford University Press

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

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