Title

Functional profiling and gene expression analysis of chromosomal copy number alterations

Authors

Lucía Conde¹, David Montaner^{1, 2}, Jordi Burguet-Castell¹, Joaquín Tárraga^{1, 2}, Fátima Al-Shahrour¹, and Joaquín Dopazo^{1, 2*}

Affiliation

¹Department of Bioinformatics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, E-46013, Spain; ²Functional Genomics Node (INB), Centro de Investigación Príncipe Felipe (CIPF), Valencia, E-46013, Spain

Email

jdopazo@cipf.es; * Corresponding author

Article Type

Prediction Model

Date

received January 13, 2007; accepted February 11, 2007; published online April 10, 2007

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 co-regulation. 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.

Keywords

profile; function; gene expression; chromosomal copy number

Citation

Conde et al., Bioinformation 1(10): 432-435 (2007)

Edited by

Susmita Datta

ISSN

0973-2063

Publisher

Biomedical Informatics

License

This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.