Annotating the regulatory genome

Methods Mol Biol. 2010;674:313-49. doi: 10.1007/978-1-60761-854-6_20.


Determining the timing and molecular repertoire responsible for gene expression is fundamental to understanding a gene's function. Heritable differences in this character are increasingly regarded as explanatory for complex and common traits. For many known trait-predisposing genes, studies have sought to elucidate the associated logic behind gene regulation. However, there exist many challenges in deciphering these mechanisms. Among them, it is recognized that we have limited understanding of regulatory complexity, the current models of gene regulation have low specificity and any gene's regulatory logic is dependent on biological context. Addressing these limitations and defining the regulatory genome is an ongoing challenge for molecular biology. We discuss current efforts to define and annotate the regulatory genome by focusing on curation and text-mining activities. We further highlight the type of information and curation process for describing regulatory elements within the ORegAnno database ( ) and how the general standards for such information are changing.

Publication types

  • Review

MeSH terms

  • Animals
  • Base Sequence
  • Data Mining
  • Databases, Genetic
  • Genome / genetics*
  • Genomics
  • Humans
  • Molecular Sequence Annotation / methods*
  • Molecular Sequence Data
  • Publications
  • Regulatory Sequences, Nucleic Acid / genetics*