Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Am J Hum Genet. 2007 Mar;80(3):502-9. Epub 2007 Jan 11.

Gene-expression variation within and among human populations.

Author information

  • 1Department of Biostatistics, University of Washington, Seattle, WA 98195-7730, USA.

Erratum in

  • Am J Hum Genet. 2007 Jun;80(6):1194.

Abstract

Understanding patterns of gene-expression variation within and among human populations will provide important insights into the molecular basis of phenotypic diversity and the interpretation of patterns of expression variation in disease. However, little is known about how gene-expression variation is apportioned within and among human populations. Here, we characterize patterns of natural gene-expression variation in 16 individuals of European and African ancestry. We find extensive variation in gene-expression levels and estimate that approximately 83% of genes are differentially expressed among individuals and that approximately 17% of genes are differentially expressed among populations. By decomposing total gene-expression variation into within- versus among-population components, we find that most expression variation is due to variation among individuals rather than among populations, which parallels observations of extant patterns of human genetic variation. Finally, we performed allele-specific quantitative polymerase chain reaction to demonstrate that cis-regulatory variation in the lymphocyte adaptor protein (SH2B adapter protein 3) contributes to differential expression between European and African samples. These results provide the first insight into how human population structure manifests itself in gene-expression levels and will help guide the search for regulatory quantitative trait loci.

PMID:
17273971
[PubMed - indexed for MEDLINE]
PMCID:
PMC1821107
Free PMC Article

Images from this publication.See all images (5)Free text

Figure  1. 
Figure  2. 
Figure  3. 
Figure  4. 
Figure  5. 
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Write to the Help Desk