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Genomic architecture and gene regulation in development, evolution and human diseases

AutorGómez-Skarmeta, José Luis
Fecha de publicación2012
CitaciónNCMLS Symposium: New Frontiers in Personal Genomics (2012)
ResumenOnly 5-10% of vertebrate genomes consist of coding sequences or genes. Moreover, the vast majority of these genes are highly conserved in all species. How then did morphological diversity arise during evolution? The current genetic theory of morphological evolution states that, to a great extent, evolution of form is the history of changing gene expression during development. Gene expression depends on cisr-egulatory regions thata control where, when and how much a gene is transcribe. These regulatory regions, immersed in the vast sea of non-coding DNA, need also to be organized in defined tridimensional chromatin architectures to precisely control their target genes. Gene regulations is not only crucial for development, but is also essential for controlling the physiology of cellsin adult organisms. Therefore, mutations that affect the activity cis-regulatory elements or alter the tridimensional chromatin architecture may not only affect development or contribute to evolution, but are associated to multiple human disease. Accordingly, 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. In the cases, the tissue, the timing or the amount of mRNA produced, and therefore of protein, is abnormal causing human disorders. This lecture will discuss the importance of a tridimensional chromatin structure for the correct regulation of the Iroquois genes, a family of homeoproteins encoding genes that play critical functions during animal development and are associated in gene clusters. We will also demonstrate how alteration in this chromatin structure is linked to human diseases.
DescripciónResumen del trabajo presentado al 6th Annual NCMLS Symposium: New Frontiers in Personal Genomic, celebrado en Nijmegen (Holanda) del 3 al 4 de diciembre de 2012.
URIhttp://hdl.handle.net/10261/130164
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