Primate-specific evolution of an LDLR enhancer
- Equal contributors
1 Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA
2 US Department of Energy Joint Genome Institute, Walnut Creek, California 94598, USA
3 Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
Genome Biology 2006, 7:R68 doi:10.1186/gb-2006-7-8-r68Published: 2 August 2006
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.
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.
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.