Influence of human genome polymorphism on gene expression

Influence of human genome polymorphism on gene expression Genetic variation, through its effects on gene expression, plays a crucial role in phenotypic variation and disease susceptibility. Recent studies from our group and others have integrated a number of resources and technologies to assess several aspects of genome variation affecting gene expression. Some of these large-scale mapping studies involving expression quantitative traits have recently been reviewed [Gibson, G. and Weir, B. (2005) The quantitative genetics of transcription. Trends Genet., 21, 616–623; de Koning, D.J. and Haley, C.S. (2005) Genetical genomics in humans and model organisms. Trends Genet., 21, 377–381], with particular attention to the statistical issues. In this review, we compare allele-specific expression studies in human samples (primarily lymphoblastoid cell lines from the CEPH HapMap panel), as a prelude to a discussion on study design issues and sources of variation, in order to propose the steps required to build a detailed map of cis-acting regulatory variation in the human genome. Obtaining panels of tissues from large numbers of individuals remains an important limitation. We also conclude that there is insufficient knowledge as to the feasibility of comprehensive studies of trans-acting variation in the human genome. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Human Molecular Genetics Oxford University Press

Influence of human genome polymorphism on gene expression

Human Molecular Genetics, Volume 15 (suppl_1) – Apr 15, 2006

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Publisher
Oxford University Press
Copyright
© The Author 2006. Published by Oxford University Press. All rights reserved.
 The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact: journals.permissions@oxfordjournals.org
ISSN
0964-6906
eISSN
1460-2083
D.O.I.
10.1093/hmg/ddl044
Publisher site
See Article on Publisher Site

Abstract

Genetic variation, through its effects on gene expression, plays a crucial role in phenotypic variation and disease susceptibility. Recent studies from our group and others have integrated a number of resources and technologies to assess several aspects of genome variation affecting gene expression. Some of these large-scale mapping studies involving expression quantitative traits have recently been reviewed [Gibson, G. and Weir, B. (2005) The quantitative genetics of transcription. Trends Genet., 21, 616–623; de Koning, D.J. and Haley, C.S. (2005) Genetical genomics in humans and model organisms. Trends Genet., 21, 377–381], with particular attention to the statistical issues. In this review, we compare allele-specific expression studies in human samples (primarily lymphoblastoid cell lines from the CEPH HapMap panel), as a prelude to a discussion on study design issues and sources of variation, in order to propose the steps required to build a detailed map of cis-acting regulatory variation in the human genome. Obtaining panels of tissues from large numbers of individuals remains an important limitation. We also conclude that there is insufficient knowledge as to the feasibility of comprehensive studies of trans-acting variation in the human genome.

Journal

Human Molecular GeneticsOxford University Press

Published: Apr 15, 2006

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