01766nas a2200205 4500008004100000022001400041245009400055210006900149260001600218300001000234490000600244520105200250100001701302700002001319700002701339700002301366700002501389700002001414856012601434 2007 eng d a0973-206300aFunctional profiling and gene expression analysis of chromosomal copy number alterations.0 aFunctional profiling and gene expression analysis of chromosomal c2007 Apr 10 a432-50 v13 a
Contrarily to the traditional view in which only one or a few key genes were supposed to be the causative factors of diseases, we discuss the importance of considering groups of functionally related genes in the study of pathologies characterised by chromosomal copy number alterations. Recent observations have reported the existence of regions in higher eukaryotic chromosomes (including humans) containing genes of related function that show a high degree of coregulation. Copy number alterations will consequently affect to clusters of functionally related genes, which will be the final causative agents of the diseased phenotype, in many cases. Therefore, we propose that the functional profiling of the regions affected by copy number alterations must be an important aspect to take into account in the understanding of this type of pathologies. To illustrate this, we present an integrated study of DNA copy number variations, gene expression along with the functional profiling of chromosomal regions in a case of multiple myeloma.
1 aConde, Lucia1 aMontaner, David1 aBurguet-Castell, Jordi1 aTárraga, Joaquín1 aAl-Shahrour, Fátima1 aDopazo, Joaquin uhttp://clinbioinfosspa.es/content/functional-profiling-and-gene-expression-analysis-chromosomal-copy-number-alterations-0