Origin of a substantial fraction of human regulatory sequences from transposable elements

Trends Genet. 2003 Feb;19(2):68-72. doi: 10.1016/s0168-9525(02)00006-9.


Transposable elements (TEs) are abundant in mammalian genomes and have potentially contributed to their hosts' evolution by providing novel regulatory or coding sequences. We surveyed different classes of regulatory region in the human genome to assess systematically the potential contribution of TEs to gene regulation. Almost 25% of the analyzed promoter regions contain TE-derived sequences, including many experimentally characterized cis-regulatory elements. Scaffold/matrix attachment regions (S/MARs) and locus control regions (LCRs) that are involved in the simultaneous regulation of multiple genes also contain numerous TE-derived sequences. Thus, TEs have probably contributed substantially to the evolution of both gene-specific and global patterns of human gene regulation.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • 5' Untranslated Regions / genetics
  • Base Sequence
  • DNA Transposable Elements / genetics*
  • Gene Expression Regulation*
  • Genome, Human
  • Globins / genetics
  • Humans
  • Locus Control Region
  • Promoter Regions, Genetic
  • RNA, Messenger / chemistry
  • RNA, Messenger / genetics
  • Repetitive Sequences, Nucleic Acid
  • Terminal Repeat Sequences / genetics


  • 5' Untranslated Regions
  • DNA Transposable Elements
  • RNA, Messenger
  • Globins