Inherited variation in gene expression

Daniel A. Skelly, James Ronald, Joshua M. Akey

Research output: Contribution to journalReview articlepeer-review

60 Scopus citations


Variation in gene expression constitutes an important source of biological variability within and between populations that is likely to contribute significantly to phenotypic diversity. Recent conceptual, technical, and methodological advances have enabled the genome-scale dissection of transcriptional variation. Here, we outline common approaches for detecting gene expression quantitative trait loci, and summarize the insights gleaned from these studies regarding the genetic architecture of transcriptional variation and the nature of regulatory alleles. Particular emphasis is placed on human studies, and we discuss experimental designs that ensure that increasingly large and complex studies continue to advance our understanding of gene expression variation. We conclude by discussing the evolution of gene expression levels, and we explore prospects for leveraging new technological developments to investigate inherited variation in gene expression in even greater depth.

Original languageEnglish (US)
Pages (from-to)313-332
Number of pages20
JournalAnnual Review of Genomics and Human Genetics
StatePublished - Sep 2009
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics
  • Molecular Biology


  • Allele-specific expression
  • Expression heterogeneity
  • Gene expression variation
  • Genetical genomics
  • Microarrays
  • eQTL


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