Primate-specific evolution of an LDLR enhancer

Genome Biol. 2006;7(8):R68. doi: 10.1186/gb-2006-7-8-R68. Epub 2006 Aug 2.


Background: Sequence changes in regulatory regions have often been invoked to explain phenotypic divergence among species, but molecular examples of this have been difficult to obtain.

Results: In this study we identified an anthropoid primate-specific sequence element that contributed to the regulatory evolution of the low-density lipoprotein receptor. Using a combination of close and distant species genomic sequence comparisons coupled with in vivo and in vitro studies, we found that a functional cholesterol-sensing sequence motif arose and was fixed within a pre-existing enhancer in the common ancestor of anthropoid primates.

Conclusion: Our study demonstrates one molecular mechanism by which ancestral mammalian regulatory elements can evolve to perform new functions in the primate lineage leading to human.

Publication types

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

MeSH terms

  • Amino Acid Motifs / genetics*
  • Animals
  • Base Sequence
  • Cell Line
  • Chromatin Immunoprecipitation
  • Computational Biology
  • Conserved Sequence / genetics
  • DNA Primers
  • Enhancer Elements, Genetic / genetics*
  • Evolution, Molecular*
  • Humans
  • Mice
  • Molecular Sequence Data
  • Phylogeny*
  • Primates / genetics*
  • Receptors, LDL / genetics*
  • Sequence Alignment


  • DNA Primers
  • Receptors, LDL