Less than 5% of vertebrate genomes consist of gene coding sequences. Moreover, the vast majority of these coding sequences are highly conserved in all examined species. How did then morphological diversity arise during evolution? The current genetic theory of morphological evolution states that "form evolves largely by altering the expression of functionally conserved proteins and that such changes occur through mutation in the cis-regulatory sequences of pleiotropic developmental regulatory loci and of the target genes within the vast networks they control" (Carroll, 2008). Therefore, to a great extent, evolution is the history of changing the regulation of gene expression during development. Gene regulation is not only crucial for development, but is also essential for controlling cell physiology in adult organisms. Therefore, it is not surprising that many of the large number of genome-wide association studies that have been reported in the last few years indicate that the lesions associated with human genetic diseases are usually not in the coding DNA of candidate genes, but rather in the non-coding regulatory regions associated with them (Maurano, 2012).
In our group we are combining epigenomics, chromosome capture assays, transgenic enhancer experiments and mutagenic studies to determine how cis-regulatory elements and chromatin structure contribute to development and evolution, and how alteration in this non-coding part of the genome affects human health.
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Last update: 15 Mar 2016