Mammalian Genome

, Volume 17, Issue 6, pp 480–489

Integrated gene expression profiling and linkage analysis in the rat

  • Enrico Petretto
  • Jonathan Mangion
  • Michal Pravanec
  • Norbert Hubner
  • Timothy J. Aitman


The combined application of genome-wide expression profiling from microarray experiments with genetic linkage analysis enables the mapping of expression quantitative trait loci (eQTLs) which are primary control points for gene expression across the genome. This approach allows for the dissection of primary and secondary genetic determinants of gene expression. The cis-acting eQTLs in practice are easier to investigate than the trans-regulated eQTLs because they are under simpler genetic control and are likely to be due to sequence variants within the gene itself or its neighboring regulatory elements. These genes are therefore candidates both for variation in gene expression and for contributions to whole-body phenotypes, particularly when these are located within known and relevant physiologic QTLs. Multiple trans-acting eQTLs tend to cluster to the same genetic location, implying shared regulatory control mechanisms that may be amenable to network analysis to identify gene clusters within the same metabolic pathway. Such clusters may ultimately underlie development of individual complex, whole-body phenotypes. The combined expression and linkage approach has been applied successfully in several mammalian species, including the rat which has specific features that demonstrate its value as a model for studying complex traits.


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Copyright information

© Springer Science+Business Media, Inc. 2006

Authors and Affiliations

  • Enrico Petretto
    • 1
  • Jonathan Mangion
    • 1
  • Michal Pravanec
    • 2
    • 3
  • Norbert Hubner
    • 4
  • Timothy J. Aitman
    • 1
  1. 1.MRC Clinical Sciences CentreFaculty of MedicineLondonUnited Kingdom
  2. 2.Institute of PhysiologyCzech Academy of Sciences and Centre for Applied GenomicsPrague 4Czech Republic
  3. 3.Institute of Biology and Medical GeneticsCharles UniversityPrague 2Czech Republic
  4. 4.Max-Delbrück-Center for Molecular MedicineBerlin-BuchGermany

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