title: Variation in vertebrate cis-regulatory elements in evolution and disease.
abstract: Much of the genetic information that drives animal diversity lies within the vast non-coding regions of the genome. Multi-species sequence conservation in non-coding regions of the genome flags important regulatory elements and more recently, techniques that look for functional signatures predicted for regulatory sequences have added to the identification of thousands more. For some time, biologists have argued that changes in cis-regulatory sequences creates the basic genetic framework for evolutionary change. Recent advances support this notion and show that there is extensive genomic variability in non-coding regulatory elements associated with trait variation, speciation and disease.
authors.affiliation: a MRC Human Genetics Unit; MRC Institute of Genetics and Molecular Medicine; University of Edinburgh; Edinburgh, UK.
authors.forename: Adam Thomas
authors.initials: AT
authors.lastname: Douglas
authors.forename: Robert D
authors.initials: RD
authors.lastname: Hill
mesh_terms: D000818:Animals; D004742:Enhancer Elements, Genetic; D019143:Evolution, Molecular; D006801:Humans; D009154:Mutation; D012045:Regulatory Sequences, Nucleic Acid; D014714:Vertebrates / Q000235:genetics*
keywords: Non-coding conserved elements; archipelagos; enhancers; evolution; holoenhancers; regulatory mutations