PT  - JOURNAL ARTICLE
AU  - Adam Siepel
AU  - Leonardo Arbiza
TI  - <em>Cis</em>-regulatory Elements and Human Evolution
AID  - 10.1101/005652
DP  - 2014 Jan 01
TA  - bioRxiv
PG  - 005652
4099  - http://biorxiv.org/content/early/2014/05/28/005652.short
4100  - http://biorxiv.org/content/early/2014/05/28/005652.full
AB  - Modification of gene regulation has long been considered an important force in human evolution, particularly through changes to cis-regulatory elements (CREs) that function in transcriptional regulation. For decades, however, the study of cis-regulatory evolution was severely limited by the available data. New data sets describing the locations of CREs and genetic variation within and between species have now made it possible to study CRE evolution much more directly on a genome-wide scale. Here, we review recent research on the evolution of CREs in humans based on large-scale genomic data sets. We consider inferences based on primate divergence, human polymorphism, and combinations of divergence and polymorphism. We then consider “new frontiers” in this field stemming from recent research on transcriptional regulation.