Functional profiling and gene expression analysis of chromosomal copy number alterations.

TitleFunctional profiling and gene expression analysis of chromosomal copy number alterations.
Publication TypeJournal Article
Year of Publication2007
AuthorsConde, L, Montaner, D, Burguet-Castell, J, Tárraga, J, Al-Shahrour, F, Dopazo, J
JournalBioinformation
Volume1
Issue10
Pagination432-5
Date Published2007 Apr 10
ISSN0973-2063
Abstract

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.

DOI10.6026/97320630001432
Alternate JournalBioinformation
PubMed ID17597935
PubMed Central IDPMC1896059