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Briefings in Functional Genomics Advance Access published online on June 26, 2009
Briefings in Functional Genomics, doi:10.1093/bfgp/elp019
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© The Author 2009. Published by Oxford University Press. For permissions, please email: journals.permissions@oxfordjournals.org

Technical Review

Genomic regulatory blocks in vertebrates and implications in human disease

Pavla Navratilova and Thomas S. Becker

Corresponding author. Thomas S. Becker, Neurobiology and Genomics Laboratory, Brain and Mind Research Institute, The University of Sydney, 100 Mallett Street, Camperdown, NSW 2050, Australia. Tel: +61 93510997; Fax: +61 03510731; E-mail: tsbecker{at}med.usyd.edu.au

Despite a recent explosion in the production of vertebrate genome sequence data and large-scale efforts to completely annotate the human genome, we still have scant knowledge of the principles that built vertebrate genomes in evolution, and of genome architecture and its functional significance. We review approaches using bioinformatics, zebrafish transgenesis, and recent findings in the molecular basis of gene regulation and tie these in with mechanisms for the maintenance of long-range conserved synteny across all vertebrate genomes. Specifically, we discuss the recently discovered genomic regulatory blocks which we argue are principal units of vertebrate genome evolution and serve as the foundations onto which evolutionary innovations are built through sequence evolution and insertion of new cis-regulatory elements. We subsequently discuss how these arrangements relate to common human heritable diseases and their significance in disease causality.

Keywords: whole genome duplication, GWAS, bystander gene


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