Transcriptional regulatory elements in the human genome

Annu Rev Genomics Hum Genet. 2006;7:29-59. doi: 10.1146/annurev.genom.7.080505.115623.


The faithful execution of biological processes requires a precise and carefully orchestrated set of steps that depend on the proper spatial and temporal expression of genes. Here we review the various classes of transcriptional regulatory elements (core promoters, proximal promoters, distal enhancers, silencers, insulators/boundary elements, and locus control regions) and the molecular machinery (general transcription factors, activators, and coactivators) that interacts with the regulatory elements to mediate precisely controlled patterns of gene expression. The biological importance of transcriptional regulation is highlighted by examples of how alterations in these transcriptional components can lead to disease. Finally, we discuss the methods currently used to identify transcriptional regulatory elements, and the ability of these methods to be scaled up for the purpose of annotating the entire human genome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Gene Expression Regulation / genetics
  • Genome, Human* / genetics
  • Humans
  • Regulatory Elements, Transcriptional* / genetics
  • Transcription Factors / genetics


  • Transcription Factors